Rolph Pfundt

Affiliations
  • Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

Publications (96)

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

Prenatal diagnosis
Avec: Chantal Deden , Kornelia Neveling , Dimitra Zafeiropopoulou , Christian Gilissen , Rolph Pfundt , Tuula Rinne , Nicole de Leeuw , Brigitte Faas , Thatjana Gardeitchik , Suzanne C E H Sallevelt , Aimee Paulussen , Servi J C Stevens , Esther Sikkel , Mariet W Elting , Merel C van Maarle , Karin E M Diderich , Nicole Corsten-Janssen , Klaske D Lichtenbelt , Guus Lachmeijer , Lisenka E L M Vissers , Helger G Yntema , Marcel Nelen , Ilse Feenstra , Wendy A G van Zelst-Stams

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Human mutation
Avec: Monica H N Thai , Alison Gardner , Laura Redpath , Tessa Mattiske , Oliver Dearsley , Marie Shaw , Anneke T Vulto-van Silfhout , Rolph Pfundt , Joanne Dixon , Julie McGaughran , Luis A Pérez-Jurado , Jozef Gécz , Cheryl Shoubridge

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nature communications
Avec: Holger Hengel , Célia Bosso-Lefèvre , George Grady , Emmanuelle Szenker-Ravi , Hankun Li , Sarah Pierce , Élise Lebigot , Thong-Teck Tan , Michelle Y Eio , Gunaseelan Narayanan , Kagistia Hana Utami , Monica Yau , Nader Handal , Werner Deigendesch , Reinhard Keimer , Hiyam M Marzouqa , Meral Gunay-Aygun , Michael J Muriello , Helene Verhelst , Sarah Weckhuysen , Sonal Mahida , Sakkubai Naidu , Terrence G Thomas , Jiin Ying Lim , Ee Shien Tan , Damien Haye , Michèl A A P Willemsen , Renske Oegema , Wendy G Mitchell , Tyler Mark Pierson , Marisa V Andrews , Marcia C Willing , Lance H Rodan , Tahsin Stefan Barakat , Marjon van Slegtenhorst , Ralitza H Gavrilova , Diego Martinelli , Tal Gilboa , Abdullah M Tamim , Mais O Hashem , Moeenaldeen D AlSayed , Maha M Abdulrahim , Mohammed Al-Owain , Ali Awaji , Adel A H Mahmoud , Eissa A Faqeih , Ali Al Asmari , Sulwan M Algain , Lamyaa A Jad , Hesham M Aldhalaan , Ingo Helbig , David A Koolen , Angelika Riess , Ingeborg Kraegeloh-Mann , Peter Bauer , Suleyman Gulsuner , Hannah Stamberger , Alvin Yu Jin Ng , Sha Tang , Sumanty Tohari , Boris Keren , Laura E Schultz-Rogers , Eric W Klee , Sabina Barresi , Marco Tartaglia , Hagar Mor-Shaked , Sateesh Maddirevula , Amber Begtrup , Aida Telegrafi , Rolph Pfundt , Rebecca Schüle , Brian Ciruna , Carine Bonnard , Mahmoud A Pouladi , James C Stewart , Adam Claridge-Chang , Dirk J Lefeber , Fowzan S Alkuraya , Ajay S Mathuru , Byrappa Venkatesh , Joseph J Barycki , Melanie A Simpson , Saumya S Jamuar , Ludger Schöls , Bruno Reversade

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Enrico D H Konrad , Niels Nardini , Almuth Caliebe , Inga Nagel , Dana Young , Gabriella Horvath , Stephanie L Santoro , Christine Shuss , Alban Ziegler , Dominique Bonneau , Marlies Kempers , Rolph Pfundt , Eric Legius , Arjan Bouman , Kyra E Stuurman , Katrin Õunap , Sander Pajusalu , Monica H Wojcik , Georgia Vasileiou , Gwenaël Le Guyader , Hege M Schnelle , Siren Berland , Evelien Zonneveld-Huijssoon , Simone Kersten , Aditi Gupta , Patrick R Blackburn , Marissa S Ellingson , Matthew J Ferber , Radhika Dhamija , Eric W Klee , Meriel McEntagart , Klaske D Lichtenbelt , Amy Kenney , Samantha A Vergano , Rami Abou Jamra , Konrad Platzer , Mary Ella Pierpont , Divya Khattar , Robert J Hopkin , Richard J Martin , Marjolijn C J Jongmans , Vivian Y Chang , Julian A Martinez-Agosto , Outi Kuismin , Mitja I Kurki , Olli Pietiläinen , Aarno Palotie , Timothy J Maarup , Diana S Johnson , Katja Venborg Pedersen , Lone W Laulund , Sally A Lynch , Moira Blyth , Katrina Prescott , Natalie Canham , Rita Ibitoye , Eva H Brilstra , Marwan Shinawi , Emily Fassi , Auteur inconnu , Heinrich Sticht , Anne Gregor , Hilde Van Esch , Christiane Zweier

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

American journal of human genetics
Avec: Hanneke A Haijes , Maria J E Koster , Holger Rehmann , Dong Li , Hakon Hakonarson , Gerarda Cappuccio , Miroslava Hancarova , Daphne Lehalle , Willie Reardon , G Bradley Schaefer , Anna Lehman , Ingrid M B H van de Laar , Coranne D Tesselaar , Clesson Turner , Alice Goldenberg , Sophie Patrier , Julien Thevenon , Michele Pinelli , Nicola Brunetti-Pierri , Darina Prchalová , Markéta Havlovicová , Markéta Vlckova , Zdeněk Sedláček , Elena Lopez , Vassilis Ragoussis , Alistair T Pagnamenta , Usha Kini , Harmjan R Vos , Robert M van Es , Richard F M A van Schaik , Ton A J van Essen , Maria Kibaek , Jenny C Taylor , Jennifer Sullivan , Vandana Shashi , Slave Petrovski , Christina Fagerberg , Donna M Martin , Koen L I van Gassen , Rolph Pfundt , Marni J Falk , Elizabeth M McCormick , H T Marc Timmers , Peter M van Hasselt

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Eline A Verberne , Shuxiang Goh , Jade England , Manon van Ginkel , Louise Rafael-Croes , Saskia Maas , Abeltje Polstra , Yuri A Zarate , Katherine A Bosanko , Kieran B Pechter , Emma Bedoukian , Kosuke Izumi , Ayeshah Chaudhry , Nathaniel H Robin , Megan Boothe , Natalie C Lippa , Vimla Aggarwal , Darryl C De Vivo , Anna Lehman , Causes Study , Sylvia Stockler , Ange-Line Bruel , Bertrand Isidor , Jennifer Lemons , David F Rodriguez-Buritica , Christopher M Richmond , Zornitza Stark , Pankaj B Agrawal , R Frank Kooy , Marije E C Meuwissen , David A Koolen , Rolf Pfundt , Agne Lieden , Britt-Marie Anderlid , Dagmar Glatz , Marcel M A M Mannens , Madhura Bakshi , Frédérick A Mallette , Mieke M van Haelst , Philippe M Campeau

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Paolo Zanoni , Katharina Steindl , Deepanwita Sengupta , Pascal Joset , Angela Bahr , Heinrich Sticht , Mariarosaria Lang-Muritano , Conny M A van Ravenswaaij-Arts , Marwan Shinawi , Marisa Andrews , Tania Attie-Bitach , Isabelle Maystadt , Newell Belnap , Valerie Benoit , Geoffroy Delplancq , Bert B A de Vries , Sarah Grotto , Didier Lacombe , Austin Larson , Jeroen Mourmans , Katrin Õunap , Giulia Petrilli , Rolph Pfundt , Keri Ramsey , Lot Snijders Blok , Vassilis Tsatsaris , Antonio Vitobello , Laurence Faivre , Patricia G Wheeler , Marijke R Wevers , Monica Wojcik , Markus Zweier , Or Gozani , Anita Rauch

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

EMBO molecular medicine
Avec: Reini E N van der Welle , Rebekah Jobling , Christian Burns , Paolo Sanza , Jan A van der Beek , Alfonso Fasano , Lan Chen , Fried J Zwartkruis , Susan Zwakenberg , Edward F Griffin , Corlinda Ten Brink , Tineke Veenendaal , Nalan Liv , Conny M A van Ravenswaaij-Arts , Henny H Lemmink , Rolph Pfundt , Susan Blaser , Carolina Sepulveda , Andres M Lozano , Grace Yoon , Teresa Santiago-Sim , Cedric S Asensio , Guy A Caldwell , Kim A Caldwell , David Chitayat , Judith Klumperman

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Human genetics
Avec: Médéric Jeanne , Marie-Laure Vuillaume , Dévina C Ung , Valerie E Vancollie , Christel Wagner , Stephan C Collins , Sandrine Vonwill , Damien Haye , Nora Chelloug , Rolph Pfundt , Joost Kummeling , Marie-Pierre Moizard , Sylviane Marouillat , Tjitske Kleefstra , Binnaz Yalcin , Frédéric Laumonnier , Annick Toutain

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

American journal of human genetics
Avec: Lindsey D Goodman , Heidi Cope , Zelha Nil , Thomas A Ravenscroft , Wu-Lin Charng , Shenzhao Lu , An-Chi Tien , Rolph Pfundt , David A Koolen , Charlotte A Haaxma , Hermine E Veenstra-Knol , Jolien S Klein Wassink-Ruiter , Marijke R Wevers , Melissa Jones , Laurence E Walsh , Victoria H Klee , Miel Theunis , Eric Legius , Dora Steel , Katy E S Barwick , Manju A Kurian , Shekeeb S Mohammad , Russell C Dale , Paulien A Terhal , Ellen van Binsbergen , Brian Kirmse , Bethany Robinette , Benjamin Cogné , Bertrand Isidor , Theresa A Grebe , Peggy Kulch , Bryan E Hainline , Katherine Sapp , Eva Morava , Eric W Klee , Erica L Macke , Pamela Trapane , Christopher Spencer , Yue Si , Amber Begtrup , Matthew J Moulton , Debdeep Dutta , Oguz Kanca , Auteur inconnu , Michael F Wangler , Shinya Yamamoto , Hugo J Bellen , Queenie K-G Tan

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.

PloS one
Avec: Ana Julia da Cunha Leite , Irene Plaza Pinto , Nico Leijsten , Martina Ruiterkamp-Versteeg , Rolph Pfundt , Nicole de Leeuw , Aparecido Divino da Cruz , Lysa Bernardes Minasi

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Silvestre Cuinat , Mathilde Nizon , Bertrand Isidor , Alexander Stegmann , Richard H van Jaarsveld , Koen L van Gassen , Jasper J van der Smagt , Catharina M L Volker-Touw , Sjoerd J B Holwerda , Paulien A Terhal , Sarah Schuhmann , Georgia Vasileiou , Mohamed Khalifa , Alaa A Nugud , Hemad Yasaei , Lilian Bomme Ousager , Charlotte Brasch-Andersen , Wallid Deb , Thomas Besnard , Marleen E H Simon , Karin Huijsdens-van Amsterdam , Nienke E Verbeek , Dena Matalon , Natalie Dykzeul , Shana White , Elizabeth Spiteri , Koen Devriendt , Anneleen Boogaerts , Marjolein Willemsen , Han G Brunner , Margje Sinnema , Bert B A De Vries , Erica H Gerkes , Rolph Pfundt , Kosuke Izumi , Ian D Krantz , Zhou L Xu , Jill R Murrell , Irene Valenzuela , Ivon Cusco , Eulàlia Rovira-Moreno , Yaping Yang , Varoona Bizaoui , Olivier Patat , Laurence Faivre , Frederic Tran-Mau-Them , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Christophe Philippe , Stéphane Bezieau , Benjamin Cogné

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics
Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Bart P G H van der Sanden , Gaby Schobers , Jordi Corominas Galbany , David A Koolen , Margje Sinnema , Jeroen van Reeuwijk , Connie T R M Stumpel , Tjitske Kleefstra , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nico Leijsten , Michael Kwint , Ronny Derks , Hilde Swinkels , Amber den Ouden , Rolph Pfundt , Tuula Rinne , Nicole de Leeuw , Alexander P Stegmann , Servi J Stevens , Arthur van den Wijngaard , Han G Brunner , Helger G Yntema , Christian Gilissen , Marcel R Nelen , Lisenka E L M Vissers

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Prenatal diagnosis
Avec: Brigitte H W Faas , Dineke Westra , Sonja A de Munnik , Maartje van Rij , Carlo Marcelis , Sara Joosten , Ingrid Krapels , Vivian Vernimmen , Malou Heijligers , Marjolein H Willemsen , Nicole de Leeuw , Tuula Rinne , Rolph Pfundt , Sanne P Smeekens , Sander P A Stegmann , Merryn Macville , Esther Sikkel , Audrey Coumans , Lia Wijnberger , Irma Derks , Josefa van Lent-Albrechts , Tom Hofste , Raoul Timmermans , Janneke van den End , Servi J C Stevens , Ilse Feenstra

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.

Nature communications
Avec: Wouter Steyaert , Lonneke Haer-Wigman , Rolph Pfundt , Debby Hellebrekers , Marloes Steehouwer , Juliet Hampstead , Elke de Boer , Alexander Stegmann , Helger Yntema , Erik-Jan Kamsteeg , Han Brunner , Alexander Hoischen , Christian Gilissen

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Nature medicine
Avec: Alexander J M Dingemans , Sandra Jansen , Jeroen van Reeuwijk , Nicole de Leeuw , Rolph Pfundt , Janneke Schuurs-Hoeijmakers , Bregje W van Bon , Carlo Marcelis , Charlotte W Ockeloen , Marjolein Willemsen , Pleuntje J van der Sluijs , Gijs W E Santen , R Frank Kooy , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , David A Koolen , Lisenka E L M Vissers , Bert B A de Vries

Novel variants in the SOX11 gene: clinical description of seven new patients.

European journal of human genetics : EJHG
Avec: Beatriz Schincariol-Manhe , Érica Campagnolo , Samira Spineli-Silva , Nicole de Leeuw , Gabriela Roldão Correia-Costa , André Pessoa , Carolina Fischinger Moura de Souza , Cathy Stevens , Poupak Javaher , Helena Fabbri Scallet , Julia Mohr , Saskia Biskup , Johanna C Herkert , Rolph Pfundt , Lakshmi Mehta , Aisha Rekab , Houda Zghal Elloumi , May Sanyoura , Andréa Trevas Maciel-Guerra , Vera Lúcia Gil-da-Silva-Lopes , Ana Mondadori Dos Santos , Társis Paiva Vieira

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

American journal of human genetics
Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Stanislas Lyonnet , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Sandra Jansen , Samantha A Vergano , Miho Adachi-Fukuda , Yasemin Alanay , Adila AlKindy , Anwar Baban , Allan Bayat , Stefanie Beck-Wödl , Katherine Berry , Emilia K Bijlsma , Levinus A Bok , Alwin F J Brouwer , Ineke van der Burgt , Philippe M Campeau , Natalie Canham , Krystyna Chrzanowska , Yoyo W Y Chu , Brain H Y Chung , Karin Dahan , Marjan De Rademaeker , Anne Destree , Tracy Dudding-Byth , Rachel Earl , Nursel Elcioglu , Ellen R Elias , Christina Fagerberg , Alice Gardham , Blanca Gener , Erica H Gerkes , Ute Grasshoff , Arie van Haeringen , Karin R Heitink , Johanna C Herkert , Nicolette S den Hollander , Denise Horn , David Hunt , Sarina G Kant , Mitsuhiro Kato , Hülya Kayserili , Rogier Kersseboom , Esra Kilic , Malgorzata Krajewska-Walasek , Kylin Lammers , Lone W Laulund , Damien Lederer , Melissa Lees , Vanesa López-González , Saskia Maas , Grazia M S Mancini , Carlo Marcelis , Francisco Martinez , Isabelle Maystadt , Marianne McGuire , Shane McKee , Sarju Mehta , Kay Metcalfe , Jeff Milunsky , Seiji Mizuno , John B Moeschler , Christian Netzer , Charlotte W Ockeloen , Barbara Oehl-Jaschkowitz , Nobuhiko Okamoto , Sharon N M Olminkhof , Carmen Orellana , Laurent Pasquier , Caroline Pottinger , Vera Riehmer , Stephen P Robertson , Maian Roifman , Caroline Rooryck , Fabienne G Ropers , Monica Rosello , Claudia A L Ruivenkamp , Mahmut S Sagiroglu , Suzanne C E H Sallevelt , Amparo Sanchis Calvo , Pelin O Simsek-Kiper , Gabriela Soares , Lucia Solaeche , Fatma Mujgan Sonmez , Miranda Splitt , Duco Steenbeek , Alexander P A Stegmann , Constance T R M Stumpel , Saori Tanabe , Eyyup Uctepe , G Eda Utine , Hermine E Veenstra-Knol , Sunita Venkateswaran , Catheline Vilain , Catherine Vincent-Delorme , Anneke T Vulto-van Silfhout , Patricia Wheeler , Golder N Wilson , Louise C Wilson , Bernd Wollnik , Tomoki Kosho , Dagmar Wieczorek , Evan Eichler , Rolph Pfundt , Bert B A de Vries , Jill Clayton-Smith , Gijs W E Santen

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

American journal of human genetics
Avec: Keren Machol , Justine Rousseau , Sophie Ehresmann , Thomas Garcia , Thi Tuyet Mai Nguyen , Rebecca C Spillmann , Jennifer A Sullivan , Vandana Shashi , Yong-Hui Jiang , Nicholas Stong , Elise Fiala , Marcia Willing , Rolph Pfundt , Tjitske Kleefstra , Megan T Cho , Heather McLaughlin , Monica Rosello Piera , Carmen Orellana , Francisco Martínez , Alfonso Caro-Llopis , Sandra Monfort , Tony Roscioli , Cheng Yee Nixon , Michael F Buckley , Anne Turner , Wendy D Jones , Peter M van Hasselt , Floris C Hofstede , Koen L I van Gassen , Alice S Brooks , Marjon A van Slegtenhorst , Katherine Lachlan , Jessica Sebastian , Suneeta Madan-Khetarpal , Desai Sonal , Naidu Sakkubai , Julien Thevenon , Laurence Faivre , Alice Maurel , Slavé Petrovski , Ian D Krantz , Jennifer M Tarpinian , Jill A Rosenfeld , Brendan H Lee , Auteur inconnu , Philippe M Campeau

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Sandra Jansen , Samantha A Vergano , Miho Adachi-Fukuda , Yasemin Alanay , Adila AlKindy , Anwar Baban , Allan Bayat , Stefanie Beck-Wödl , Katherine Berry , Emilia K Bijlsma , Levinus A Bok , Alwin F J Brouwer , Ineke van der Burgt , Philippe M Campeau , Natalie Canham , Krystyna Chrzanowska , Yoyo W Y Chu , Brain H Y Chung , Karin Dahan , Marjan De Rademaeker , Anne Destree , Tracy Dudding-Byth , Rachel Earl , Nursel Elcioglu , Ellen R Elias , Christina Fagerberg , Alice Gardham , Blanca Gener , Erica H Gerkes , Ute Grasshoff , Arie van Haeringen , Karin R Heitink , Johanna C Herkert , Nicolette S den Hollander , Denise Horn , David Hunt , Sarina G Kant , Mitsuhiro Kato , Hülya Kayserili , Rogier Kersseboom , Esra Kilic , Malgorzata Krajewska-Walasek , Kylin Lammers , Lone W Laulund , Damien Lederer , Melissa Lees , Vanesa López-González , Saskia Maas , Grazia M S Mancini , Carlo Marcelis , Francisco Martinez , Isabelle Maystadt , Marianne McGuire , Shane McKee , Sarju Mehta , Kay Metcalfe , Jeff Milunsky , Seiji Mizuno , John B Moeschler , Christian Netzer , Charlotte W Ockeloen , Barbara Oehl-Jaschkowitz , Nobuhiko Okamoto , Sharon N M Olminkhof , Carmen Orellana , Laurent Pasquier , Caroline Pottinger , Vera Riehmer , Stephen P Robertson , Maian Roifman , Caroline Rooryck , Fabienne G Ropers , Monica Rosello , Claudia A L Ruivenkamp , Mahmut S Sagiroglu , Suzanne C E H Sallevelt , Amparo Sanchis Calvo , Pelin O Simsek-Kiper , Gabriela Soares , Lucia Solaeche , Fatma Mujgan Sonmez , Miranda Splitt , Duco Steenbeek , Alexander P A Stegmann , Constance T R M Stumpel , Saori Tanabe , Eyyup Uctepe , G Eda Utine , Hermine E Veenstra-Knol , Sunita Venkateswaran , Catheline Vilain , Catherine Vincent-Delorme , Anneke T Vulto-van Silfhout , Patricia Wheeler , Golder N Wilson , Louise C Wilson , Bernd Wollnik , Tomoki Kosho , Dagmar Wieczorek , Evan Eichler , Rolph Pfundt , Bert B A de Vries , Jill Clayton-Smith , Gijs W E Santen

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

American journal of human genetics
Avec: Maria J Nabais Sá , Geniver El Tekle , Arjan P M de Brouwer , Sarah L Sawyer , Daniela Del Gaudio , Michael J Parker , Farah Kanani , Marie-José H van den Boogaard , Koen van Gassen , Margot I Van Allen , Klaas Wierenga , Gabriela Purcarin , Ellen Roy Elias , Amber Begtrup , Jennifer Keller-Ramey , Tiziano Bernasocchi , Laurens van de Wiel , Christian Gilissen , Hanka Venselaar , Rolph Pfundt , Lisenka E L M Vissers , Jean-Philippe P Theurillat , Bert B A de Vries

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

American journal of medical genetics. Part A
Avec: Heidi Goldsmith , Anna Wells , Maria J N Sá , Mark Williams , Helen Heussler , Melissa Buckman , Rolph Pfundt , Bert B A de Vries , Himanshu Goel

DLG4-related synaptopathy: a new rare brain disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Christine Coubes , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Bertrand Isidor , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Frederic Tran Mau-Them , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics
Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Siddharth Banka , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Antonio Vitobello , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

Discovery of a neuromuscular syndrome caused by biallelic variants in

HGG advances
Avec: Divya Nair , Dong Li , Hannah Erdogan , Andrew Yoon , Margaret H Harr , Gaber Bergant , Borut Peterlin , Maruša Škrjanec Pušenjak , Parul Jayakar , Rolph Pfundt , Sandra Jansen , Kirsty McWalter , Alpa Sidhu , Sheila Saliganan , Emanuele Agolini , Arthur Jacob , Jennifer Pasquier , Rafii Arash , Kimia Kahrizi , Hossein Najmabadi , Hans-Hilger Ropers , Elizabeth J Bhoj

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Clinical genetics
Avec: Dmitrijs Rots , Kathleen Rooney , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Rolph Pfundt , Carlo Marcelis , Marjolein H Willemsen , Johanna M van Hagen , Petra Zwijnenburg , Marielle Alders , Katrin Õunap , Tiia Reimand , Olga Fjodorova , Siren Berland , Eva Benedicte Liahjell , Ognjen Bojovic , Marjolein Kriek , Claudia Ruivenkamp , Maria Teresa Bonati , Han G Brunner , Lisenka E L M Vissers , Bekim Sadikovic , Tjitske Kleefstra

Variant-specific pathophysiological mechanisms of

medRxiv : the preprint server for health sciences
Avec: Sissy Bassani , Jacqueline Chrast , Giovanna Ambrosini , Norine Voisin , Frédéric Schütz , Alfredo Brusco , Fabio Sirchia , Lydia Turban , Susanna Schubert , Rami Abou Jamra , Jan-Ulrich Schlump , Desiree DeMille , Pinar Bayrak-Toydemir , Gary Rex Nelson , Kristen Nicole Wong , Laura Duncan , Mackenzie Mosera , Christian Gilissen , Lisenka E L M Vissers , Rolph Pfundt , Rogier Kersseboom , Hilde Yttervik , Geir Åsmund Myge Hansen , Marie Falkenberg Smeland , Kameryn M Butler , Michael J Lyons , Claudia M B Carvalho , Chaofan Zhang , James R Lupski , Lorraine Potocki , Leticia Flores-Gallegos , Rodrigo Morales-Toquero , Florence Petit , Binnaz Yalcin , Annabelle Tuttle , Houda Zghal Elloumi , Lane Mccormick , Mary Kukolich , Oliver Klaas , Judit Horvath , Marcello Scala , Michele Iacomino , Francesca Operto , Federico Zara , Karin Writzl , Ales Maver , Maria K Haanpää , Pia Pohjola , Harri Arikka , Christian Iseli , Nicolas Guex , Alexandre Reymond

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Maria Iascone , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Raissa Relator , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

European journal of medical genetics
Avec: Julian Delanne , Magaly Lecat , Patrick R Blackburn , Eric W Klee , Constance T R M Stumpel , Sander Stegmann , Servi J C Stevens , Caroline Nava , Delphine Heron , Boris Keren , Sonal Mahida , Sakkubai Naidu , Dusica Babovic-Vuksanovic , Johanna C Herkert , Pernille M Torring , Maria Kibæk , Isabelle De Bie , Rolph Pfundt , Yvonne M C Hendriks , Lilian Bomme Ousager , Renee Bend , Hannah Warren , Steven A Skinner , Michael J Lyons , Charlotte Pöe , Martin Chevarin , Thibaud Jouan , Aurore Garde , Quentin Thomas , Paul Kuentz , Emilie Tisserant , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

American journal of medical genetics. Part A
Avec: Alanna Strong , Soumya Rao , Sandra von Hardenberg , Dong Li , Liza L Cox , Paul C Lee , Li Q Zhang , Waheed Awotoye , Tamir Diamond , Jessica Gold , Catherine Gooch , Lord Jephthah Joojo Gowans , Hakon Hakonarson , Anne Hing , Kathleen Loomes , Nicole Martin , Mary L Marazita , Tarja Mononen , David Piccoli , Rolph Pfundt , Salmo Raskin , Stephen W Scherer , Nara Sobriera , Courtney Vaccaro , Xiang Wang , Deborah Watson , Rosanna Weksberg , Elizabeth Bhoj , Jeffrey C Murray , Andrew C Lidral , Azeez Butali , Michael F Buckley , Tony Roscioli , David A Koolen , Laurie H Seaver , Cynthia A Prows , Rolf W Stottmann , Timothy C Cox

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Brain : a journal of neurology
Avec: Tamar Harel , Camille Spicher , Elisabeth Scheer , Jillian G Buchan , Jennifer Cech , Chiara Folland , Tanja Frey , Alexander M Holtz , A Micheil Innes , Boris Keren , William L Macken , Carlo Marcelis , Catherine E Otten , Sarah A Paolucci , Florence Petit , Rolph Pfundt , Robert D S Pitceathly , Anita Rauch , Gianina Ravenscroft , Rani Sanchev , Katharina Steindl , Femke Tammer , Amanda Tyndall , Didier Devys , Stéphane D Vincent , Orly Elpeleg , László Tora

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

American journal of human genetics
Avec: Dmitrijs Rots , Arianne Bouman , Ayumi Yamada , Michael Levy , Alexander J M Dingemans , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nicole de Leeuw , Charlotte W Ockeloen , Rolph Pfundt , Elke de Boer , Joost Kummeling , Bregje van Bon , Hans van Bokhoven , Nael Nadif Kasri , Hanka Venselaar , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Alma Kuechler , Bart Elffers , Rixje van Beeck Calkoen , Susanna Hofman , Audrey Smith , Maria Irene Valenzuela , Siddharth Srivastava , Zoe Frazier , Isabelle Maystadt , Carmelo Piscopo , Giuseppe Merla , Meena Balasubramanian , Gijs W E Santen , Kay Metcalfe , Soo-Mi Park , Laurent Pasquier , Siddharth Banka , Dian Donnai , Daniel Weisberg , Gertrud Strobl-Wildemann , Annemieke Wagemans , Maaike Vreeburg , Diana Baralle , Nicola Foulds , Ingrid Scurr , Nicola Brunetti-Pierri , Johanna M van Hagen , Emilia K Bijlsma , Anna H Hakonen , Carolina Courage , David Genevieve , Lucile Pinson , Francesca Forzano , Charu Deshpande , Maria L Kluskens , Lindsey Welling , Astrid S Plomp , Els K Vanhoutte , Louisa Kalsner , Janna A Hol , Audrey Putoux , Johanna Lazier , Pradeep Vasudevan , Elizabeth Ames , Jessica O'Shea , Damien Lederer , Julie Fleischer , Mary O'Connor , Melissa Pauly , Georgia Vasileiou , André Reis , Catherine Kiraly-Borri , Arjan Bouman , Chris Barnett , Marjan Nezarati , Lauren Borch , Gea Beunders , Kübra Özcan , Stéphanie Miot , Catharina M L Volker-Touw , Koen L I van Gassen , Gerarda Cappuccio , Katrien Janssens , Nofar Mor , Inna Shomer , Dan Dominissini , Matthew L Tedder , Alison M Muir , Bekim Sadikovic , Han G Brunner , Lisenka E L M Vissers , Yoichi Shinkai , Tjitske Kleefstra

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

European journal of human genetics : EJHG
Avec: Angela Peron , Felice D'Arco , Kimberly A Aldinger , Constance Smith-Hicks , Christiane Zweier , Gyri A Gradek , Kimberley Bradbury , Andrea Accogli , Erica F Andersen , Ping Yee Billie Au , Roberta Battini , Daniah Beleford , Lynne M Bird , Arjan Bouman , Ange-Line Bruel , Øyvind Løvold Busk , Philippe M Campeau , Valeria Capra , Colleen Carlston , Jenny Carmichael , Anna Chassevent , Jill Clayton-Smith , Michael J Bamshad , Dawn L Earl , Laurence Faivre , Christophe Philippe , Patrick Ferreira , Luitgard Graul-Neumann , Mary J Green , Darrah Haffner , Parthiv Haldipur , Suhair Hanna , Gunnar Houge , Wendy D Jones , Cornelia Kraus , Birgit Elisabeth Kristiansen , James Lespinasse , Karen J Low , Sally Ann Lynch , Sofia Maia , Rong Mao , Ruta Kalinauskiene , Catherine Melver , Kimberly McDonald , Tara Montgomery , Manuela Morleo , Constance Motter , Amanda S Openshaw , Janice Cox Palumbos , Aditi Shah Parikh , Yezmin Perilla-Young , Cynthia M Powell , Richard Person , Megha Desai , Juliette Piard , Rolph Pfundt , Marcello Scala , Margaux Serey-Gaut , Deborah Shears , Anne Slavotinek , Mohnish Suri , Claire Turner , Tatiana Tvrdik , Karin Weiss , Ingrid M Wentzensen , Marcella Zollino , Tzung-Chien Hsieh , Auteur inconnu , Auteur inconnu , Auteur inconnu , Bert B A de Vries , Francois Guillemot , William B Dobyns , David Viskochil , Cristina Dias

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Maria J Nabais Sá , Hanka Venselaar , Laurens Wiel , Aurélien Trimouille , Eulalie Lasseaux , Sophie Naudion , Didier Lacombe , Amélie Piton , Catherine Vincent-Delorme , Christiane Zweier , André Reis , Regina Trollmann , Anna Ruiz , Elisabeth Gabau , Annalisa Vetro , Renzo Guerrini , Somayeh Bakhtiari , Michael C Kruer , David J Amor , Monica S Cooper , Emilia K Bijlsma , Tahsin Stefan Barakat , Marieke F van Dooren , Marjon van Slegtenhorst , Rolph Pfundt , Christian Gilissen , Michèl A Willemsen , Bert B A de Vries , Arjan P M de Brouwer , David A Koolen

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

Molecular genetics & genomic medicine
Avec: Willem Verhoeven , Jos Egger , Janneke Kipp , Jiska Verheul-Aan de Wiel , Charlotte Ockeloen , Tjitske Kleefstra , Rolph Pfundt

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

American journal of human genetics
Avec: Susan M Hiatt , Michelle L Thompson , Jeremy W Prokop , James M J Lawlor , David E Gray , E Martina Bebin , Tuula Rinne , Marlies Kempers , Rolph Pfundt , Bregje W van Bon , Cyril Mignot , Caroline Nava , Christel Depienne , Louisa Kalsner , Anita Rauch , Pascal Joset , Ruxandra Bachmann-Gagescu , Ingrid M Wentzensen , Kirsty McWalter , Gregory M Cooper

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

PLoS genetics
Avec: Dov Tiosano , Hagit N Baris , Anlu Chen , Marrit M Hitzert , Markus Schueler , Federico Gulluni , Antje Wiesener , Antonio Bergua , Adi Mory , Brett Copeland , Joseph G Gleeson , Patrick Rump , Hester van Meer , Deborah A Sival , Volker Haucke , Josh Kriwinsky , Karl X Knaup , André Reis , Nadine N Hauer , Emilio Hirsch , Ronald Roepman , Rolph Pfundt , Christian T Thiel , Michael S Wiesener , Mariam G Aslanyan , David A Buchner

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

American journal of human genetics
Avec: Illja J Diets , Roos van der Donk , Kristina Baltrunaite , Esmé Waanders , Margot R F Reijnders , Alexander J M Dingemans , Rolph Pfundt , Anneke T Vulto-van Silfhout , Laurens Wiel , Christian Gilissen , Julien Thevenon , Laurence Perrin , Alexandra Afenjar , Caroline Nava , Boris Keren , Sarah Bartz , Bethany Peri , Gea Beunders , Nienke Verbeek , Koen van Gassen , Isabelle Thiffault , Maxime Cadieux-Dion , Lina Huerta-Saenz , Matias Wagner , Vassiliki Konstantopoulou , Julia Vodopiutz , Matthias Griese , Annekatrien Boel , Bert Callewaert , Han G Brunner , Tjitske Kleefstra , Nicoline Hoogerbrugge , Bert B A de Vries , Vivian Hwa , Andrew Dauber , Jayne Y Hehir-Kwa , Roland P Kuiper , Marjolijn C J Jongmans

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

American journal of human genetics
Avec: Jacob R Stolz , Kendall M Foote , Hermine E Veenstra-Knol , Rolph Pfundt , Sanne W Ten Broeke , Nicole de Leeuw , Laura Roht , Sander Pajusalu , Reelika Part , Ionella Rebane , Katrin Õunap , Zornitza Stark , Edwin P Kirk , John A Lawson , Sebastian Lunke , John Christodoulou , Raymond J Louie , R Curtis Rogers , Jessica M Davis , A Micheil Innes , Xing-Chang Wei , Boris Keren , Cyril Mignot , Robert Roger Lebel , Steven M Sperber , Ai Sakonju , Nienke Dosa , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Claudia A L Ruivenkamp , Bregje W van Bon , Joanna Kennedy , Karen J Low , Sian Ellard , Lewis Pang , Joseph J Junewick , Paul R Mark , Gemma L Carvill , Geoffrey T Swanson

Pathogenic variants in

Journal of medical genetics
Avec: Jorge Luis Granadillo , Alexander P A Stegmann , Hui Guo , Kun Xia , Brad Angle , Kelly Bontempo , Judith D Ranells , Patricia Newkirk , Carrie Costin , Joleen Viront , Constanze T Stumpel , Margje Sinnema , Bianca Panis , Rolph Pfundt , Ingrid P C Krapels , Merel Klaassens , Joost Nicolai , Jinliang Li , Yuwu Jiang , Elysa Marco , Ana Canton , Ana Claudia Latronico , Luciana Montenegro , Bruno Leheup , Celine Bonnet , Shivarajan M Amudhavalli , Caitlin E Lawson , Kirsty McWalter , Aida Telegrafi , Richard Pearson , Malin Kvarnung , Xia Wang , Weimin Bi , Jill Anne Rosenfeld , Marwan Shinawi

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexander J M Dingemans , Max Hinne , Sandra Jansen , Jeroen van Reeuwijk , Nicole de Leeuw , Rolph Pfundt , Bregje W van Bon , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , David A Koolen , Marcel A J van Gerven , Lisenka E L M Vissers , Bert B A de Vries

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: D L Polla , E J Bhoj , J B G M Verheij , J S Klein Wassink-Ruiter , A Reis , C Deshpande , A Gregor , K Hill-Karfe , A T Vulto-van Silfhout , R Pfundt , E M H F Bongers , H Hakonarson , S Berland , G Gradek , S Banka , K Chandler , L Gompertz , S C Huffels , C T R M Stumpel , R Wennekes , A P A Stegmann , W Reardon , E K S M Leenders , B B A de Vries , D Li , E Zackai , N Ragge , S A Lynch , S Cuddapah , H van Bokhoven , C Zweier , A P M de Brouwer

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Human mutation
Avec: Geeske M van Woerden , Melanie Bos , Charlotte de Konink , Ben Distel , Rossella Avagliano Trezza , Natasha E Shur , Kristin Barañano , Sonal Mahida , Anna Chassevent , Allison Schreiber , Angelika L Erwin , Karen W Gripp , Fatima Rehman , Saskia Brulleman , Róisín McCormack , Gwynna de Geus , Louisa Kalsner , Arthur Sorlin , Ange-Line Bruel , David A Koolen , Melissa K Gabriel , Mari Rossi , David R Fitzpatrick , Andrew O M Wilkie , Eduardo Calpena , David Johnson , Alice Brooks , Marjon van Slegtenhorst , Julie Fleischer , Daniel Groepper , Kristin Lindstrom , A Micheil Innes , Allison Goodwin , Jennifer Humberson , Amanda Noyes , Katherine G Langley , Aida Telegrafi , Amy Blevins , Jessica Hoffman , Maria J Guillen Sacoto , Jane Juusola , Kristin G Monaghan , Sumit Punj , Marleen Simon , Rolph Pfundt , Ype Elgersma , Tjitske Kleefstra

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.

Human molecular genetics
Avec: Maria J Nabais Sá , Alexandra N Olson , Grace Yoon , Graeme A M Nimmo , Christopher M Gomez , Michèl A Willemsen , Francisca Millan , Alexandra Schneider , Rolph Pfundt , Arjan P M de Brouwer , Jonathan D Dinman , Bert B A de Vries

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly Melland , Fabian Bumbak , Anna Kolesnik-Taylor , Elise Ng-Cordell , Abinayah John , Panayiotis Constantinou , Shelagh Joss , Martin Larsen , Christina Fagerberg , Lone Walentin Laulund , Jenny Thies , Frances Emslie , Marjolein Willemsen , Tjitske Kleefstra , Rolf Pfundt , Rebekah Barrick , Richard Chang , Lucy Loong , Majid Alfadhel , Jasper van der Smagt , Mathilde Nizon , Manju A Kurian , Daniel J Scott , Joshua J Ziarek , Sarah L Gordon , Kate Baker

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

The Journal of clinical investigation
Avec: Charlotte Gehin , Museer A Lone , Winston Lee , Laura Capolupo , Sylvia Ho , Adekemi M Adeyemi , Erica H Gerkes , Alexander Pa Stegmann , Estrella López-Martín , Eva Bermejo-Sánchez , Beatriz Martínez-Delgado , Christiane Zweier , Cornelia Kraus , Bernt Popp , Vincent Strehlow , Daniel Gräfe , Ina Knerr , Eppie R Jones , Stefano Zamuner , Luciano A Abriata , Vidya Kunnathully , Brandon E Moeller , Anthony Vocat , Samuel Rommelaere , Jean-Philippe Bocquete , Evelyne Ruchti , Greta Limoni , Marine Van Campenhoudt , Samuel Bourgeat , Petra Henklein , Christian Gilissen , Bregje W van Bon , Rolph Pfundt , Marjolein H Willemsen , Jolanda H Schieving , Emanuela Leonardi , Fiorenza Soli , Alessandra Murgia , Hui Guo , Qiumeng Zhang , Kun Xia , Christina R Fagerberg , Christoph P Beier , Martin J Larsen , Irene Valenzuela , Paula Fernández-Álvarez , Shiyi Xiong , Robert Śmigiel , Vanesa López-González , Lluís Armengol , Manuela Morleo , Angelo Selicorni , Annalaura Torella , Moira Blyth , Nicola S Cooper , Valerie Wilson , Renske Oegema , Yvan Herenger , Aurore Garde , Ange-Line Bruel , Frederic Tran Mau-Them , Alexis Br Maddocks , Jennifer M Bain , Musadiq A Bhat , Gregory Costain , Peter Kannu , Ashish Marwaha , Neena L Champaigne , Michael J Friez , Ellen B Richardson , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Yask Gupta , Tze Y Lim , Simone Sanna-Cherchi , Bruno Lemaitre , Toshiyuki Yamaji , Kentaro Hanada , John E Burke , Ana Marjia Jakšić , Brian D McCabe , Paolo De Los Rios , Thorsten Hornemann , Giovanni D'Angelo , Vincenzo A Gennarino

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

European journal of pediatrics
Avec: Richelle A C M Olde Keizer , Abderrahim Marouane , Wilhelmina S Kerstjens-Frederikse , A Chantal Deden , Klaske D Lichtenbelt , Tinneke Jonckers , Marieke Vervoorn , Maaike Vreeburg , Lidewij Henneman , Linda S de Vries , Richard J Sinke , Rolph Pfundt , Servi J C Stevens , Peter Andriessen , Richard A van Lingen , Marcel Nelen , Hans Scheffer , Daphne Stemkens , Cor Oosterwijk , Hans Kristian Ploos van Amstel , Willem P de Boode , Wendy A G van Zelst-Stams , Geert W J Frederix , Lisenka E L M Vissers , Auteur inconnu

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics
Avec: Dmitrijs Rots , Taryn E Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , Rolph Pfundt , Bert B A de Vries , Richard H van Jaarsveld , Saskia M J Hopman , Ellen van Binsbergen , Irene Valenzuela , Maja Hempel , Tatjana Bierhals , Fanny Kortüm , Francois Lecoquierre , Alice Goldenberg , Jens Michael Hertz , Charlotte Brasch Andersen , Maria Kibæk , Eloise J Prijoles , Roger E Stevenson , David B Everman , Wesley G Patterson , Linyan Meng , Charul Gijavanekar , Karl De Dios , Shenela Lakhani , Tess Levy , Matias Wagner , Dagmar Wieczorek , Paul J Benke , María Soledad Lopez Garcia , Renee Perrier , Sergio B Sousa , Pedro M Almeida , Maria José Simões , Bertrand Isidor , Wallid Deb , Andrew A Schmanski , Omar Abdul-Rahman , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , Antonio Vitobello , Christel Thauvin , Jeroen J Smits , Livia Garavelli , Stefano G Caraffi , Francesca Peluso , Laura Davis-Keppen , Dylan Platt , Erin Royer , Lisette Leeuwen , Margje Sinnema , Alexander P A Stegmann , Constance T R M Stumpel , George E Tiller , Daniëlle G M Bosch , Stephanus T Potgieter , Shelagh Joss , Miranda Splitt , Simon Holden , Matina Prapa , Nicola Foulds , Sofia Douzgou , Kaija Puura , Regina Waltes , Andreas G Chiocchetti , Christine M Freitag , F Kyle Satterstrom , Silvia De Rubeis , Joseph Buxbaum , Bruce D Gelb , Aleksic Branko , Itaru Kushima , Jennifer Howe , Stephen W Scherer , Alessia Arado , Chiara Baldo , Olivier Patat , Demeer Bénédicte , Diego Lopergolo , Filippo M Santorelli , Tobias B Haack , Andreas Dufke , Miriam Bertrand , Ruth J Falb , Angelika Rieß , Peter Krieg , Stephanie Spranger , Maria Francesca Bedeschi , Maria Iascone , Sarah Josephi-Taylor , Tony Roscioli , Michael F Buckley , Jan Liebelt , Aditi I Dagli , Emmelien Aten , Anna C E Hurst , Alesha Hicks , Mohnish Suri , Ermal Aliu , Sunil Naik , Richard Sidlow , Juliette Coursimault , Gaël Nicolas , Hanna Küpper , Florence Petit , Veyan Ibrahim , Deniz Top , Francesca Di Cara , Auteur inconnu , Raymond J Louie , Elliot Stolerman , Han G Brunner , Lisenka E L M Vissers , Jamie M Kramer , Tjitske Kleefstra

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Human genomics
Avec: Burcu Yaldiz , Erdi Kucuk , Juliet Hampstead , Tom Hofste , Rolph Pfundt , Jordi Corominas Galbany , Tuula Rinne , Helger G Yntema , Alexander Hoischen , Marcel Nelen , Christian Gilissen , Auteur inconnu

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

American journal of medical genetics. Part A
Avec: Thoa Ha , Angela Morgan , Meghan N Bartos , Katelyn Beatty , Benjamin Cogné , Dominique Braun , Céline B Gerber , Harald Gaspar , Anna M Kopps , Claudine Rieubland , Anna C E Hurst , David J Amor , Mathilde Nizon , Laurent Pasquier , Rolph Pfundt , André Reis , Victoria Mok Siu , Marine Tessarech , Michelle L Thompson , Marie Vincent , Bert B A de Vries , Matthew B Walsh , Stephanie Burns Wechsler , Christiane Zweier , Rhonda E Schnur , Maria J Guillen Sacoto , Henri Margot , Barbara Masotto , Maria Irene Valenzuela Palafoll , Urwah Nawaz , Irina Voineagu , Anne Slavotinek

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics
Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

Blood advances
Avec: Marja W Wessels , Marjon H Cnossen , Thamar B van Dijk , Nynke Gillemans , K L Juliëtte Schmidt , Kirsten van Lom , Divya S Vinjamur , Steven Coyne , Ryo Kurita , Yukio Nakamura , Stella A de Man , Rolph Pfundt , Zakia Azmani , Rutger W W Brouwer , Daniel E Bauer , Mirjam C G N van den Hout , Wilfred F J van IJcken , Sjaak Philipsen

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Nature
Avec: Joanna Kaplanis , Kaitlin E Samocha , Laurens Wiel , Zhancheng Zhang , Kevin J Arvai , Ruth Y Eberhardt , Giuseppe Gallone , Stefan H Lelieveld , Hilary C Martin , Jeremy F McRae , Patrick J Short , Rebecca I Torene , Elke de Boer , Petr Danecek , Eugene J Gardner , Ni Huang , Jenny Lord , Iñigo Martincorena , Rolph Pfundt , Margot R F Reijnders , Alison Yeung , Helger G Yntema , Auteur inconnu , Lisenka E L M Vissers , Jane Juusola , Caroline F Wright , Han G Brunner , Helen V Firth , David R FitzPatrick , Jeffrey C Barrett , Matthew E Hurles , Christian Gilissen , Kyle Retterer

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

European journal of human genetics : EJHG
Avec: Meena Balasubramanian , Alexander J M Dingemans , Shadi Albaba , Ruth Richardson , Thabo M Yates , Helen Cox , Sofia Douzgou , Ruth Armstrong , Francis H Sansbury , Katherine B Burke , Andrew E Fry , Nicola Ragge , Saba Sharif , Alison Foster , Annachiara De Sandre-Giovannoli , Sahar Elouej , Pradeep Vasudevan , Sahar Mansour , Kate Wilson , Helen Stewart , Solveig Heide , Caroline Nava , Boris Keren , Serwet Demirdas , Alice S Brooks , Marie Vincent , Bertrand Isidor , Sebastien Küry , Meyke Schouten , Erika Leenders , Wendy K Chung , Arie van Haeringen , Thomas Scheffner , Francois-Guillaume Debray , Susan M White , Maria Irene Valenzuela Palafoll , Rolph Pfundt , Ruth Newbury-Ecob , Tjitske Kleefstra

Germline AGO2 mutations impair RNA interference and human neurological development.

Nature communications
Avec: Davor Lessel , Daniela M Zeitler , Margot R F Reijnders , Andriy Kazantsev , Fatemeh Hassani Nia , Alexander Bartholomäus , Victoria Martens , Astrid Bruckmann , Veronika Graus , Allyn McConkie-Rosell , Marie McDonald , Bernarda Lozic , Ee-Shien Tan , Erica Gerkes , Jessika Johannsen , Jonas Denecke , Aida Telegrafi , Evelien Zonneveld-Huijssoon , Henny H Lemmink , Breana W M Cham , Tanja Kovacevic , Linda Ramsdell , Kimberly Foss , Diana Le Duc , Diana Mitter , Steffen Syrbe , Andreas Merkenschlager , Margje Sinnema , Bianca Panis , Joanna Lazier , Matthew Osmond , Taila Hartley , Jeremie Mortreux , Tiffany Busa , Chantal Missirian , Pankaj Prasun , Sabine Lüttgen , Ilaria Mannucci , Ivana Lessel , Claudia Schob , Stefan Kindler , John Pappas , Rachel Rabin , Marjolein Willemsen , Thatjana Gardeitchik , Katharina Löhner , Patrick Rump , Kerith-Rae Dias , Carey-Anne Evans , Peter Ian Andrews , Tony Roscioli , Han G Brunner , Chieko Chijiwa , M E Suzanne Lewis , Rami Abou Jamra , David A Dyment , Kym M Boycott , Alexander P A Stegmann , Christian Kubisch , Ene-Choo Tan , Ghayda M Mirzaa , Kirsty McWalter , Tjitske Kleefstra , Rolph Pfundt , Zoya Ignatova , Gunter Meister , Hans-Jürgen Kreienkamp

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Epilepsia
Avec: Francesca M Snoeijen-Schouwenaars , Jans S van Ool , Judith S Verhoeven , Petra van Mierlo , Hilde M H Braakman , Eric E Smeets , Joost Nicolai , Jeroen Schoots , Mariel W A Teunissen , Rob P W Rouhl , In Y Tan , Helger G Yntema , Han G Brunner , Rolph Pfundt , Alexander P Stegmann , Erik-Jan Kamsteeg , Helenius J Schelhaas , Marjolein H Willemsen

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

American journal of human genetics
Avec: Lot Snijders Blok , Tjitske Kleefstra , Hanka Venselaar , Saskia Maas , Hester Y Kroes , Augusta M A Lachmeijer , Koen L I van Gassen , Helen V Firth , Susan Tomkins , Simon Bodek , Auteur inconnu , Katrin Õunap , Monica H Wojcik , Christopher Cunniff , Katherine Bergstrom , Zoë Powis , Sha Tang , Deepali N Shinde , Catherine Au , Alejandro D Iglesias , Kosuke Izumi , Jacqueline Leonard , Ahmad Abou Tayoun , Samuel W Baker , Marco Tartaglia , Marcello Niceta , Maria Lisa Dentici , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Antonio Vitobello , Laurence Faivre , Christophe Philippe , Christian Gilissen , Laurens Wiel , Rolph Pfundt , Pelagia Deriziotis , Han G Brunner , Simon E Fisher

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

American journal of human genetics
Avec: Chris Balak , Marianne Benard , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey , Michèle Ernoult-Lange , Francesca Mattioli , Lorida Llaci , Véronique Geoffroy , Maité Courel , Marcus Naymik , Kristine K Bachman , Rolph Pfundt , Patrick Rump , Johanna Ter Beest , Ingrid M Wentzensen , Kristin G Monaghan , Kirsty McWalter , Ryan Richholt , Antony Le Béchec , Wayne Jepsen , Matt De Both , Newell Belnap , Anne Boland , Ignazio S Piras , Jean-François Deleuze , Szabolcs Szelinger , Hélène Dollfus , Jamel Chelly , Jean Muller , Arthur Campbell , Dennis Lal , Sampathkumar Rangasamy , Jean-Louis Mandel , Vinodh Narayanan , Matt Huentelman , Dominique Weil , Amélie Piton

Accurate detection of clinically relevant uniparental disomy from exome sequencing data.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kevin Yauy , Nicole de Leeuw , Helger G Yntema , Rolph Pfundt , Christian Gilissen

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Human mutation
Avec: Tiana M Scott , Hui Guo , Evan E Eichler , Jill A Rosenfeld , Kaifang Pang , Zhandong Liu , Seema Lalani , Weimin Bi , Yaping Yang , Carlos A Bacino , Haley Streff , Andrea M Lewis , Mary K Koenig , Isabelle Thiffault , Allison Bellomo , David B Everman , Julie R Jones , Roger E Stevenson , Raphael Bernier , Christian Gilissen , Rolph Pfundt , Susan M Hiatt , Gregory M Cooper , Jimmy L Holder , Daryl A Scott

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Molecular psychiatry
Avec: Joost Kummeling , Diante E Stremmelaar , Nicholas Raun , Margot R F Reijnders , Marjolein H Willemsen , Martina Ruiterkamp-Versteeg , Marga Schepens , Calvin C O Man , Christian Gilissen , Megan T Cho , Kirsty McWalter , Margje Sinnema , James W Wheless , Marleen E H Simon , Casie A Genetti , Alicia M Casey , Paulien A Terhal , Jasper J van der Smagt , Koen L I van Gassen , Pascal Joset , Angela Bahr , Katharina Steindl , Anita Rauch , Elmar Keller , Annick Raas-Rothschild , David A Koolen , Pankaj B Agrawal , Trevor L Hoffman , Nina N Powell-Hamilton , Isabelle Thiffault , Kendra Engleman , Dihong Zhou , Olaf Bodamer , Julia Hoefele , Korbinian M Riedhammer , Eva M C Schwaibold , Velibor Tasic , Dirk Schubert , Deniz Top , Rolph Pfundt , Martin R Higgs , Jamie M Kramer , Tjitske Kleefstra

Cold Spring Harbor molecular case studies
Avec: Beáta Bessenyei , István Balogh , Attila Mokánszki , Anikó Ujfalusi , Rolph Pfundt , Katalin Szakszon

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.

International journal of general medicine
Avec: Willem M A Verhoeven , Jos I M Egger , Sandra Mergler , Ton A A Meijer , Rolph Pfundt , Marjolein H Willemsen

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Genome medicine
Avec: Gaby Schobers , Jolanda H Schieving , Helger G Yntema , Maartje Pennings , Rolph Pfundt , Ronny Derks , Tom Hofste , Ilse de Wijs , Nienke Wieskamp , Simone van den Heuvel , Jordi Corominas Galbany , Christian Gilissen , Marcel Nelen , Han G Brunner , Tjitske Kleefstra , Erik-Jan Kamsteeg , Michèl A A P Willemsen , Lisenka E L M Vissers

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with

Journal of medical genetics
Avec: Katalin Szakszon , Charles Marques Lourenco , Bert Louis Callewaert , David Geneviève , Flavien Rouxel , Denis Morin , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Wesley G Patterson , Raymond Louie , Filippo Pinto E Vairo , Eric Klee , Charu Kaiwar , Ralitza H Gavrilova , Katherine E Agre , Sebastien Jacquemont , Jizi Khadijé , Jacques Giltay , Koen van Gassen , Gabriella Merő , Erica Gerkes , Bregje W Van Bon , Tuula Rinne , Rolph Pfundt , Han G Brunner , Oana Caluseriu , Ute Grasshoff , Martin Kehrer , Tobias B Haack , Melik Malek Khelifa , Anke Katharina Bergmann , Anna Maria Cueto-González , Ariadna Campos Martorell , Shwetha Ramachandrappa , Lindsey B Sawyer , Pascale Fasel , Dominique Braun , Atallah Isis , Andrea Superti-Furga , Vanda McNiven , David Chitayat , Syed Anas Ahmed , Heiko Brennenstuhl , Eva Mc Schwaibolf , Gladys Battisti , Benoit Parmentier , Servi J C Stevens

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in

HGG advances
Avec: Divya Nair , Dong Li , Hannah Erdogan , Andrew Yoon , Margaret H Harr , Gaber Bergant , Borut Peterlin , Maruša Škrjanec Pušenjak , Parul Jayakar , Rolph Pfundt , Sandra Jansen , Kirsty McWalter , Alpa Sidhu , Sheila Saliganan , Emanuele Agolini , Arthur Jacob , Jennifer Pasquier , Rafii Arash , Kimia Kahrizi , Hossein Najmabadi , Hans-Hilger Ropers , Elizabeth J Bhoj

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Molecular psychiatry
Avec: Elizabeth E Palmer , Michael Pusch , Alessandra Picollo , Caitlin Forwood , Matthew H Nguyen , Vanessa Suckow , Jessica Gibbons , Alva Hoff , Lisa Sigfrid , Andre Megarbane , Mathilde Nizon , Benjamin Cogné , Claire Beneteau , Fowzan S Alkuraya , Aziza Chedrawi , Mais O Hashem , Hannah Stamberger , Sarah Weckhuysen , Arnaud Vanlander , Berten Ceulemans , Sulekha Rajagopalan , Kenneth Nunn , Stéphanie Arpin , Martine Raynaud , Constance S Motter , Catherine Ward-Melver , Katrien Janssens , Marije Meuwissen , Diane Beysen , Nicola Dikow , Mona Grimmel , Tobias B Haack , Emma Clement , Amy McTague , David Hunt , Sharron Townshend , Michelle Ward , Linda J Richards , Cas Simons , Gregory Costain , Lucie Dupuis , Roberto Mendoza-Londono , Tracy Dudding-Byth , Jackie Boyle , Carol Saunders , Emily Fleming , Salima El Chehadeh , Marie-Aude Spitz , Amelie Piton , Bénédicte Gerard , Marie-Thérèse Abi Warde , Gillian Rea , Caoimhe McKenna , Sofia Douzgou , Siddharth Banka , Cigdem Akman , Jennifer M Bain , Tristan T Sands , Golder N Wilson , Erin J Silvertooth , Lauren Miller , Damien Lederer , Rani Sachdev , Rebecca Macintosh , Olivier Monestier , Deniz Karadurmus , Felicity Collins , Melissa Carter , Luis Rohena , Marjolein H Willemsen , Charlotte W Ockeloen , Rolph Pfundt , Sanne D Kroft , Michael Field , Francisco E R Laranjeira , Ana M Fortuna , Ana R Soares , Vincent Michaud , Sophie Naudion , Sailaja Golla , David D Weaver , Lynne M Bird , Jennifer Friedman , Virginia Clowes , Shelagh Joss , Laura Pölsler , Philippe M Campeau , Maria Blazo , Emilia K Bijlsma , Jill A Rosenfeld , Christian Beetz , Zöe Powis , Kirsty McWalter , Tracy Brandt , Erin Torti , Mikaël Mathot , Shekeeb S Mohammad , Ruth Armstrong , Vera M Kalscheuer

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Nature genetics
Avec: Alexander J M Dingemans , Max Hinne , Kim M G Truijen , Lia Goltstein , Jeroen van Reeuwijk , Nicole de Leeuw , Janneke Schuurs-Hoeijmakers , Rolph Pfundt , Illja J Diets , Joery den Hoed , Elke de Boer , Jet Coenen-van der Spek , Sandra Jansen , Bregje W van Bon , Noraly Jonis , Charlotte W Ockeloen , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , David A Koolen , Philippe M Campeau , Elizabeth E Palmer , Hilde Van Esch , Gholson J Lyon , Fowzan S Alkuraya , Anita Rauch , Ronit Marom , Diana Baralle , Pleuntje J van der Sluijs , Gijs W E Santen , R Frank Kooy , Marcel A J van Gerven , Lisenka E L M Vissers , Bert B A de Vries

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Frederike L Harms , Alexander J M Dingemans , Maja Hempel , Rolph Pfundt , Tatjana Bierhals , Christian Casar , Christian Müller , Jikke-Mien F Niermeijer , Jan Fischer , Arne Jahn , Christoph Hübner , Silvia Majore , Emanuele Agolini , Antonio Novelli , Jasper van der Smagt , Robert Ernst , Ellen van Binsbergen , Grazia M S Mancini , Marjon van Slegtenhorst , Tahsin Stefan Barakat , Emma L Wakeling , Arveen Kamath , Lilian Downie , Lynn Pais , Susan M White , Bert B A de Vries , Kerstin Kutsche

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

European journal of human genetics : EJHG
Avec: Robin Wijngaard , German Demidov , Luke O'Gorman , Jordi Corominas-Galbany , Burcu Yaldiz , Wouter Steyaert , Elke de Boer , Lisenka E L M Vissers , Erik-Jan Kamsteeg , Rolph Pfundt , Hilde Swinkels , Amber den Ouden , Iris B A W Te Paske , Richarda M de Voer , Laurence Faivre , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Antonio Vitobello , Martin Chevarin , Volker Straub , Ana Töpf , Anneke J van der Kooi , Francesca Magrinelli , Clarissa Rocca , Michael G Hanna , Jana Vandrovcova , Auteur inconnu , Stephan Ossowski , Steven Laurie , Christian Gilissen

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

JCI insight
Avec: Ghada M H Abdel-Salam , Susanne Hellmuth , Elise Gradhand , Stephan Käseberg , Jennifer Winter , Ann-Sophie Pabst , Maha M Eid , Holger Thiele , Peter Nürnberg , Birgit S Budde , Mohammad Reza Toliat , Ines B Brecht , Christopher Schroeder , Axel Gschwind , Stephan Ossowski , Friederike Häuser , Heidi Rossmann , Mohamed S Abdel-Hamid , Ibrahim Hegazy , Ahmed G Mohamed , Dominik T Schneider , Aida Bertoli-Avella , Peter Bauer , Jillian N Pearring , Rolph Pfundt , Alexander Hoischen , Christian Gilissen , Dennis Strand , Ulrich Zechner , Soha A Tashkandi , Eissa A Faqeih , Olaf Stemmann , Susanne Strand , Hanno J Bolz

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

American journal of human genetics
Avec: Caspar I van der Made , Simone Kersten , Odelia Chorin , Karin R Engelhardt , Gayatri Ramakrishnan , Helen Griffin , Ina Schim van der Loeff , Hanka Venselaar , Annick Raas Rothschild , Meirav Segev , Janneke H M Schuurs-Hoeijmakers , Tuomo Mantere , Rick Essers , Masoud Zamani Esteki , Amir L Avital , Peh Sun Loo , Annet Simons , Rolph Pfundt , Adilia Warris , Marieke M Seyger , Frank L van de Veerdonk , Mihai G Netea , Mary A Slatter , Terry Flood , Andrew R Gennery , Amos J Simon , Atar Lev , Shirley Frizinsky , Ortal Barel , Mirjam van der Burg , Raz Somech , Sophie Hambleton , Stefanie S V Henriet , Alexander Hoischen

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

American journal of human genetics
Avec: Andreea Manole , Stephanie Efthymiou , Emer O'Connor , Marisa I Mendes , Matthew Jennings , Reza Maroofian , Indran Davagnanam , Kshitij Mankad , Maria Rodriguez Lopez , Vincenzo Salpietro , Ricardo Harripaul , Lauren Badalato , Jagdeep Walia , Christopher S Francklyn , Alkyoni Athanasiou-Fragkouli , Roisin Sullivan , Sonal Desai , Kristin Baranano , Faisal Zafar , Nuzhat Rana , Muhammed Ilyas , Alejandro Horga , Majdi Kara , Francesca Mattioli , Alice Goldenberg , Helen Griffin , Amelie Piton , Lindsay B Henderson , Benyekhlef Kara , Ayca Dilruba Aslanger , Joost Raaphorst , Rolph Pfundt , Ruben Portier , Marwan Shinawi , Amelia Kirby , Katherine M Christensen , Lu Wang , Rasim O Rosti , Sohail A Paracha , Muhammad T Sarwar , Dagan Jenkins , Auteur inconnu , Jawad Ahmed , Federico A Santoni , Emmanuelle Ranza , Justyna Iwaszkiewicz , Cheryl Cytrynbaum , Rosanna Weksberg , Ingrid M Wentzensen , Maria J Guillen Sacoto , Yue Si , Aida Telegrafi , Marisa V Andrews , Dustin Baldridge , Heinz Gabriel , Julia Mohr , Barbara Oehl-Jaschkowitz , Sylvain Debard , Bruno Senger , Frédéric Fischer , Conny van Ravenwaaij , Annemarie J M Fock , Servi J C Stevens , Jürg Bähler , Amina Nasar , John F Mantovani , Adnan Manzur , Anna Sarkozy , Desirée E C Smith , Gajja S Salomons , Zubair M Ahmed , Shaikh Riazuddin , Saima Riazuddin , Muhammad A Usmani , Annette Seibt , Muhammad Ansar , Stylianos E Antonarakis , John B Vincent , Muhammad Ayub , Mona Grimmel , Anne Marie Jelsig , Tina Duelund Hjortshøj , Helena Gásdal Karstensen , Marybeth Hummel , Tobias B Haack , Yalda Jamshidi , Felix Distelmaier , Rita Horvath , Joseph G Gleeson , Hubert Becker , Jean-Louis Mandel , David A Koolen , Henry Houlden

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Human mutation
Avec: Chun-An Chen , Emeline Crutcher , Harinder Gill , Tanya N Nelson , Laurie A Robak , Marjolijn C J Jongmans , Rolph Pfundt , Chitra Prasad , Roberta A Berard , Madeleine Fannemel , Eirik Frengen , Doriana Misceo , Keri Ramsey , Yaping Yang , Christian P Schaaf , Xia Wang

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

European journal of human genetics : EJHG
Avec: Sandra Jansen , Ilse M van der Werf , A Micheil Innes , Alexandra Afenjar , Pankaj B Agrawal , Ilse J Anderson , Paldeep S Atwal , Ellen van Binsbergen , Marie-José van den Boogaard , Lucia Castiglia , Zeynep H Coban-Akdemir , Anke van Dijck , Diane Doummar , Albertien M van Eerde , Anthonie J van Essen , Koen L van Gassen , Maria J Guillen Sacoto , Mieke M van Haelst , Ivan Iossifov , Jessica L Jackson , Elizabeth Judd , Charu Kaiwar , Boris Keren , Eric W Klee , Jolien S Klein Wassink-Ruiter , Marije E Meuwissen , Kristin G Monaghan , Sonja A de Munnik , Caroline Nava , Charlotte W Ockeloen , Rosa Pettinato , Hilary Racher , Tuula Rinne , Corrado Romano , Victoria R Sanders , Rhonda E Schnur , Eric J Smeets , Alexander P A Stegmann , Asbjørg Stray-Pedersen , David A Sweetser , Paulien A Terhal , Kristian Tveten , Grace E VanNoy , Petra F de Vries , Jessica L Waxler , Marcia Willing , Rolph Pfundt , Joris A Veltman , R Frank Kooy , Lisenka E L M Vissers , Bert B A de Vries

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Human mutation
Avec: Ivo F A C Fokkema , Kasper J van der Velde , Mariska K Slofstra , Claudia A L Ruivenkamp , Maartje J Vogel , Rolph Pfundt , Marinus J Blok , Ronald H Lekanne Deprez , Quinten Waisfisz , Kristin M Abbott , Richard J Sinke , Rubayte Rahman , Isaäc J Nijman , Bart de Koning , Gert Thijs , Nienke Wieskamp , Ruben J G Moritz , Bart Charbon , Jasper J Saris , Johan T den Dunnen , Jeroen F J Laros , Morris A Swertz , Marielle E van Gijn

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

American journal of human genetics
Avec: David J Amor , Sarah E M Stephenson , Mirna Mustapha , Martin A Mensah , Charlotte W Ockeloen , Wei Shern Lee , Rick M Tankard , Dean G Phelan , Marwan Shinawi , Arjan P M de Brouwer , Rolph Pfundt , Cari Dowling , Tomi L Toler , V Reid Sutton , Emanuele Agolini , Martina Rinelli , Rossella Capolino , Diego Martinelli , Giuseppe Zampino , Miroslav Dumić , William Reardon , Charles Shaw-Smith , Richard J Leventer , Martin B Delatycki , Tjitske Kleefstra , Stefan Mundlos , Geert Mortier , Melanie Bahlo , Nicola J Allen , Paul J Lockhart

Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.

European journal of endocrinology
Avec: Hanneke J B H Beijers , Nike M L Stikkelbroeck , Arjen R Mensenkamp , Rolph Pfundt , Rob B van der Luijt , Henri J L M Timmers , Ad R M M Hermus , Marlies J E Kempers

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

A de novo

International medical case reports journal
Avec: Willem M A Verhoeven , Jos I M Egger , Rob E Jongbloed , Marloes Meijer van Putten , Marieke de Bruin-van Zandwijk , Anne-Suus Zwemer , Rolph Pfundt , Marjolein H Willemsen

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A
Avec: Caroline Dias , Rolph Pfundt , Tjitske Kleefstra , Janneke Shuurs-Hoeijmakers , Elles M J Boon , Johanna M van Hagen , Petra Zwijnenburg , Marjan M Weiss , Boris Keren , Cyril Mignot , Arnaud Isapof , Karin Weiss , Tova Hershkovitz , Maria Iascone , Silvia Maitz , René G Feichtinger , Dieter Kotzot , Johannes A Mayr , Tawfeg Ben-Omran , Laila Mahmoud , Lynn S Pais , Christopher A Walsh , Vandana Shashi , Jennifer A Sullivan , Nicholas Stong , Francois Lecoquierre , Anne-Marie Guerrot , Aude Charollais , Lance H Rodan

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics
Avec: Dmitrijs Rots , Eric Chater-Diehl , Alexander J M Dingemans , Sarah J Goodman , Michelle T Siu , Cheryl Cytrynbaum , Sanaa Choufani , Ny Hoang , Susan Walker , Zain Awamleh , Joshua Charkow , Stephen Meyn , Rolph Pfundt , Tuula Rinne , Thatjana Gardeitchik , Bert B A de Vries , A Chantal Deden , Erika Leenders , Michael Kwint , Constance T R M Stumpel , Servi J C Stevens , Jeroen R Vermeulen , Jeske V T van Harssel , Danielle G M Bosch , Koen L I van Gassen , Ellen van Binsbergen , Christa M de Geus , Hein Brackel , Maja Hempel , Davor Lessel , Jonas Denecke , Anne Slavotinek , Jonathan Strober , Amy Crunk , Leandra Folk , Ingrid M Wentzensen , Hui Yang , Fanggeng Zou , Francisca Millan , Richard Person , Yili Xie , Shuxi Liu , Lilian B Ousager , Martin Larsen , Laura Schultz-Rogers , Eva Morava , Eric W Klee , Ian R Berry , Jennifer Campbell , Kristin Lindstrom , Brianna Pruniski , Ann M Neumeyer , Jessica A Radley , Chanika Phornphutkul , Berkley Schmidt , William G Wilson , Katrin Õunap , Karit Reinson , Sander Pajusalu , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Fernando Santos-Simarro , María Palomares-Bralo , Marta Pacio-Míguez , Alyssa Ritter , Elizabeth Bhoj , Elin Tønne , Kristian Tveten , Gerarda Cappuccio , Nicola Brunetti-Pierri , Leah Rowe , Jason Bunn , Margarita Saenz , Konrad Platzer , Mareike Mertens , Oana Caluseriu , Małgorzata J M Nowaczyk , Ronald D Cohn , Peter Kannu , Ebba Alkhunaizi , David Chitayat , Stephen W Scherer , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , David A Koolen , Rosanna Weksberg

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marjolein J A Weerts , Kristina Lanko , Francisco J Guzmán-Vega , Adam Jackson , Reshmi Ramakrishnan , Kelly J Cardona-Londoño , Karla A Peña-Guerra , Yolande van Bever , Barbara W van Paassen , Anneke Kievit , Marjon van Slegtenhorst , Nicholas M Allen , Caroline M Kehoe , Hannah K Robinson , Lewis Pang , Selina H Banu , Mashaya Zaman , Stephanie Efthymiou , Henry Houlden , Irma Järvelä , Leena Lauronen , Tuomo Määttä , Isabelle Schrauwen , Suzanne M Leal , Claudia A L Ruivenkamp , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Hamid Galehdari , Neda Mazaheri , Sanjay M Sisodiya , Victoria Harrison , Angela Sun , Jenny Thies , Luis Alberto Pedroza , Yana Lara-Taranchenko , Ivan K Chinn , James R Lupski , Alexandra Garza-Flores , Jeffery McGlothlin , Lin Yang , Shaoping Huang , Xiaodong Wang , Tamison Jewett , Gretchen Rosso , Xi Lin , Shehla Mohammed , J Lawrence Merritt , Ghayda M Mirzaa , Andrew E Timms , Joshua Scheck , Mariet W Elting , Abeltje M Polstra , Lauren Schenck , Maura R Z Ruzhnikov , Annalisa Vetro , Martino Montomoli , Renzo Guerrini , Daniel C Koboldt , Theresa Mihalic Mosher , Matthew T Pastore , Kim L McBride , Jing Peng , Zou Pan , Marjolein Willemsen , Susanne Koning , Peter D Turnpenny , Bert B A de Vries , Christian Gilissen , Rolph Pfundt , Melissa Lees , Stephen R Braddock , Kara C Klemp , Fleur Vansenne , Marielle E van Gijn , Catherine Quindipan , Matthew A Deardorff , J Austin Hamm , Abbey M Putnam , Rebecca Baud , Laurence Walsh , Sally A Lynch , Julia Baptista , Richard E Person , Kristin G Monaghan , Amy Crunk , Jennifer Keller-Ramey , Adi Reich , Houda Zghal Elloumi , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Sadegheh Haghshenas , Auteur inconnu , Reza Maroofian , Bekim Sadikovic , Siddharth Banka , Stefan T Arold , Tahsin Stefan Barakat

Clinical exome sequencing-Mistakes and caveats.

Human mutation
Avec: Jordi Corominas , Sanne P Smeekens , Marcel R Nelen , Helger G Yntema , Erik-Jan Kamsteeg , Rolph Pfundt , Christian Gilissen

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elke de Boer , Charlotte W Ockeloen , Rosalie A Kampen , Juliet E Hampstead , Alexander J M Dingemans , Dmitrijs Rots , Lukas Lütje , Tazeen Ashraf , Rachel Baker , Mouna Barat-Houari , Brad Angle , Nicolas Chatron , Anne-Sophie Denommé-Pichon , Orrin Devinsky , Christèle Dubourg , Frances Elmslie , Houda Zghal Elloumi , Laurence Faivre , Sarah Fitzgerald-Butt , David Geneviève , Jacqueline A C Goos , Benjamin M Helm , Usha Kini , Amaia Lasa-Aranzasti , Gaetan Lesca , Sally A Lynch , Irene M J Mathijssen , Ruth McGowan , Kristin G Monaghan , Sylvie Odent , Rolph Pfundt , Audrey Putoux , Jeroen van Reeuwijk , Gijs W E Santen , Erina Sasaki , Arthur Sorlin , Peter J van der Spek , Alexander P A Stegmann , Sigrid M A Swagemakers , Irene Valenzuela , Eléonore Viora-Dupont , Antonio Vitobello , Stephanie M Ware , Mathys Wéber , Christian Gilissen , Karen J Low , Simon E Fisher , Lisenka E L M Vissers , Maggie M K Wong , Tjitske Kleefstra

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.

Clinical genetics
Avec: Gabriela Roldão Correia-Costa , Nicole de Leeuw , Rolph Pfundt , Ilária Cristina Sgardioli , Ana Paula Dos Santos , Marilza de Lima Santos , Vera Lúcia Gil-da-Silva-Lopes , Társis Paiva Vieira

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jet Coenen-van der Spek , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Michael A Levy , Matthew L Tedder , Raymond J Louie , Robin S Fletcher , Hannah W Moore , Anna Childers , Ellyn R Farrelly , Neena L Champaigne , Michael J Lyons , David B Everman , R Curtis Rogers , Steven A Skinner , Alicia Renck , Dena R Matalon , Shelley K Dills , Berrin Monteleone , Serwet Demirdas , Alexander J M Dingemans , Laura Donker Kaat , Sharon M Kolk , Rolph Pfundt , Patrick Rump , Bekim Sadikovic , Tjitske Kleefstra , Kameryn M Butler

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation
Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Margaret H Harr , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Jozef Gecz , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

Réseau de co-auteurs

Tjitske Kleefstra 30 collaborations
None None 26 collaborations
Bert B A de Vries 25 collaborations
Christian Gilissen 24 collaborations
Lisenka E L M Vissers 21 collaborations
Han G Brunner 17 collaborations
Boris Keren 15 collaborations
Laurence Faivre 14 collaborations
David A Koolen 13 collaborations
Nicole de Leeuw 12 collaborations
Alexander J M Dingemans 12 collaborations
Antonio Vitobello 11 collaborations
Kirsty McWalter 11 collaborations
Alexander P A Stegmann 11 collaborations
Koen L I van Gassen 10 collaborations
Philippe M Campeau 10 collaborations
Sandra Jansen 10 collaborations
Charlotte W Ockeloen 10 collaborations
Tuula Rinne 9 collaborations
Ange-Line Bruel 9 collaborations
Ellen van Binsbergen 9 collaborations
Marjolein H Willemsen 9 collaborations
Elke de Boer 9 collaborations
Helger G Yntema 8 collaborations
Eric W Klee 8 collaborations
Christiane Zweier 8 collaborations
Anita Rauch 8 collaborations
Margje Sinnema 8 collaborations
Anne-Sophie Denommé-Pichon 8 collaborations
Christophe Philippe 8 collaborations
Ingrid M Wentzensen 8 collaborations
Siddharth Banka 8 collaborations
Servi J C Stevens 7 collaborations
Anneke T Vulto-van Silfhout 7 collaborations
Marjon van Slegtenhorst 7 collaborations
Marco Tartaglia 7 collaborations
Aida Telegrafi 7 collaborations
Bertrand Isidor 7 collaborations
Benjamin Cogné 7 collaborations
Mathilde Nizon 7 collaborations
Claudia A L Ruivenkamp 7 collaborations
Alexandra Afenjar 7 collaborations
Carlo Marcelis 7 collaborations
Bregje W van Bon 7 collaborations
Hanka Venselaar 7 collaborations
Emanuele Agolini 7 collaborations
Dmitrijs Rots 7 collaborations
Caroline Nava 7 collaborations
A Micheil Innes 7 collaborations
André Reis 7 collaborations
Tahsin Stefan Barakat 6 collaborations
Katrin Õunap 6 collaborations
Julien Thevenon 6 collaborations
Erica H Gerkes 6 collaborations
Isabelle Thiffault 6 collaborations
Erik-Jan Kamsteeg 6 collaborations
Gijs W E Santen 6 collaborations
Shelagh Joss 6 collaborations
Emilia K Bijlsma 6 collaborations
Constance T R M Stumpel 6 collaborations
Marcia Willing 6 collaborations
Tobias B Haack 6 collaborations
Haley McConkey 6 collaborations
Bekim Sadikovic 6 collaborations
Raymond J Louie 6 collaborations
Kristin G Monaghan 6 collaborations
Thatjana Gardeitchik 5 collaborations
Lance H Rodan 5 collaborations
Rami Abou Jamra 5 collaborations
Marwan Shinawi 5 collaborations
Dong Li 5 collaborations
Usha Kini 5 collaborations
Vandana Shashi 5 collaborations
Lot Snijders Blok 5 collaborations
Marjolein Willemsen 5 collaborations
Arie van Haeringen 5 collaborations
Jeroen van Reeuwijk 5 collaborations
Alexander Hoischen 5 collaborations
Jill A Rosenfeld 5 collaborations
Jill Clayton-Smith 5 collaborations
Laurens Wiel 5 collaborations
Adam Jackson 5 collaborations
Simon E Fisher 5 collaborations
Jennifer Kerkhof 5 collaborations
Maria Iascone 5 collaborations
Anne Slavotinek 5 collaborations
Marcel Nelen 4 collaborations
Renske Oegema 4 collaborations
Amber Begtrup 4 collaborations
Arjan Bouman 4 collaborations
Konrad Platzer 4 collaborations
Gerarda Cappuccio 4 collaborations
Anna Lehman 4 collaborations
Nicola Brunetti-Pierri 4 collaborations
Christina Fagerberg 4 collaborations
Saskia Maas 4 collaborations
Pankaj B Agrawal 4 collaborations
R Frank Kooy 4 collaborations
Katharina Steindl 4 collaborations
Isabelle Maystadt 4 collaborations
David Chitayat 4 collaborations
Hermine E Veenstra-Knol 4 collaborations
Paulien A Terhal 4 collaborations
Martina Ruiterkamp-Versteeg 4 collaborations
Richard H van Jaarsveld 4 collaborations
Marleen E H Simon 4 collaborations
Irene Valenzuela 4 collaborations
Yaping Yang 4 collaborations
Jessica Douglas 4 collaborations
Stephen P Robertson 4 collaborations
Catherine Vincent-Delorme 4 collaborations
Pleuntje J van der Sluijs 4 collaborations
Johanna C Herkert 4 collaborations
Houda Zghal Elloumi 4 collaborations
Sophie Ehresmann 4 collaborations
Justine Rousseau 4 collaborations
Oana Caluseriu 4 collaborations
Damien Lederer 4 collaborations
Grazia M S Mancini 4 collaborations
Laurent Pasquier 4 collaborations
Patricia Wheeler 4 collaborations
Tony Roscioli 4 collaborations
Alice S Brooks 4 collaborations
Arjan P M de Brouwer 4 collaborations
David B Everman 4 collaborations
Naomichi Matsumoto 4 collaborations
Ruth Newbury-Ecob 4 collaborations
Michael J Lyons 4 collaborations
Marcello Scala 4 collaborations
Antonio Novelli 4 collaborations
Steven A Skinner 4 collaborations
Rosanna Weksberg 4 collaborations
Louisa Kalsner 4 collaborations
David J Amor 4 collaborations
Rhonda E Schnur 4 collaborations
Tatjana Bierhals 4 collaborations
Michelle L Thompson 4 collaborations
Cyril Mignot 4 collaborations
Patrick Rump 4 collaborations
Margot R F Reijnders 4 collaborations
Maria J Guillen Sacoto 4 collaborations
Maja Hempel 4 collaborations
Marie Vincent 4 collaborations
Jonas Denecke 4 collaborations
Lynn Pais 4 collaborations
Suzanne C E H Sallevelt 3 collaborations
Mariet W Elting 3 collaborations
Klaske D Lichtenbelt 3 collaborations
Sonal Mahida 3 collaborations
Ingo Helbig 3 collaborations
Fowzan S Alkuraya 3 collaborations
Sander Pajusalu 3 collaborations
Georgia Vasileiou 3 collaborations
Evelien Zonneveld-Huijssoon 3 collaborations
Patrick R Blackburn 3 collaborations
Samantha A Vergano 3 collaborations
Marjolijn C J Jongmans 3 collaborations
Lone W Laulund 3 collaborations
Sally A Lynch 3 collaborations
Moira Blyth 3 collaborations
Natalie Canham 3 collaborations
Eva H Brilstra 3 collaborations
Hakon Hakonarson 3 collaborations
Alice Goldenberg 3 collaborations
Kosuke Izumi 3 collaborations
Mieke M van Haelst 3 collaborations
Pascal Joset 3 collaborations
Conny M A van Ravenswaaij-Arts 3 collaborations
Keri Ramsey 3 collaborations
Marijke R Wevers 3 collaborations
Joost Kummeling 3 collaborations
Eva Morava 3 collaborations
Catharina M L Volker-Touw 3 collaborations
Wallid Deb 3 collaborations
Thomas Besnard 3 collaborations
Nienke Verbeek 3 collaborations
Arthur Sorlin 3 collaborations
Diana Baralle 3 collaborations
Marcello Niceta 3 collaborations
Jordi Corominas Galbany 3 collaborations
Connie T R M Stumpel 3 collaborations
Tom Hofste 3 collaborations
Daryl A Scott 3 collaborations
Malin Kvarnung 3 collaborations
Nicholas Stong 3 collaborations
Kristian Tveten 3 collaborations
Megha Desai 3 collaborations
Elaine H Zackai 3 collaborations
Sylvie Odent 3 collaborations
Sylvia Redon 3 collaborations
Jeanne Amiel 3 collaborations
James R Lupski 3 collaborations
Evan E Eichler 3 collaborations
Allan Bayat 3 collaborations
Tracy Dudding-Byth 3 collaborations
Ute Grasshoff 3 collaborations
David Hunt 3 collaborations
Mitsuhiro Kato 3 collaborations
Rogier Kersseboom 3 collaborations
Melissa Lees 3 collaborations
Vanesa López-González 3 collaborations
Kay Metcalfe 3 collaborations
Barbara Oehl-Jaschkowitz 3 collaborations
Nobuhiko Okamoto 3 collaborations
Carmen Orellana 3 collaborations
Maian Roifman 3 collaborations
Caroline Rooryck 3 collaborations
Miranda Splitt 3 collaborations
Golder N Wilson 3 collaborations
Bernd Wollnik 3 collaborations
Dagmar Wieczorek 3 collaborations
Rebecca C Spillmann 3 collaborations
Elise Fiala 3 collaborations
Michael F Buckley 3 collaborations
Maria J Nabais Sá 3 collaborations
Michael J Parker 3 collaborations
Koen van Gassen 3 collaborations
Kimberly A Aldinger 3 collaborations
Bernt Popp 3 collaborations
Gea Beunders 3 collaborations
Anna C E Hurst 3 collaborations
Frederic Tran Mau-Them 3 collaborations
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