Claudia A L Ruivenkamp

Affiliations
  • Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

Publications (31)

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Nature communications
Avec: Hui Guo , Elisa Bettella , Paul C Marcogliese , Rongjuan Zhao , Jonathan C Andrews , Tomasz J Nowakowski , Madelyn A Gillentine , Kendra Hoekzema , Tianyun Wang , Huidan Wu , Sharayu Jangam , Cenying Liu , Hailun Ni , Marjolein H Willemsen , Bregje W van Bon , Tuula Rinne , Servi J C Stevens , Tjitske Kleefstra , Han G Brunner , Helger G Yntema , Min Long , Wenjing Zhao , Zhengmao Hu , Cindy Colson , Nicolas Richard , Charles E Schwartz , Corrado Romano , Lucia Castiglia , Maria Bottitta , Shweta U Dhar , Deanna J Erwin , Lisa Emrick , Boris Keren , Alexandra Afenjar , Baosheng Zhu , Bing Bai , Pawel Stankiewicz , Kristin Herman , Auteur inconnu , Saadet Mercimek-Andrews , Jane Juusola , Amy B Wilfert , Rami Abou Jamra , Benjamin Büttner , Heather C Mefford , Alison M Muir , Ingrid E Scheffer , Brigid M Regan , Stephen Malone , Jozef Gecz , Jan Cobben , Marjan M Weiss , Quinten Waisfisz , Emilia K Bijlsma , Mariëtte J V Hoffer , Claudia A L Ruivenkamp , Stefano Sartori , Fan Xia , Jill A Rosenfeld , Raphael A Bernier , Michael F Wangler , Shinya Yamamoto , Kun Xia , Alexander P A Stegmann , Hugo J Bellen , Alessandra Murgia , Evan E Eichler

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Davor Lessel , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.

Journal of medical genetics
Avec: Aniek L van Wijngaarden , Yasmine L Hiemstra , Tamara T Koopmann , Claudia A L Ruivenkamp , Emmelien Aten , Martin J Schalij , Jeroen J Bax , Victoria Delgado , Daniela Q C M Barge-Schaapveld , Nina Ajmone Marsan

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.

Clinical pharmacology and therapeutics
Avec: Maaike van der Lee , William G Allard , Sander Bollen , Gijs W E Santen , Claudia A L Ruivenkamp , Mariëtte J V Hoffer , Marjolein Kriek , Henk-Jan Guchelaar , Seyed Y Anvar , Jesse J Swen

Correction: Putting genome-wide sequencing in neonates into perspective.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Emmelien Aten , Daniela Q C M Barge-Schaapveld , Emilia K Bijlsma , Regina Bökenkamp-Gramann , Laura Donker Kaat , Remco van Doorn , Dietje Fransen van de Putte , Arie van Haeringen , Arend D J Ten Harkel , Yvonne Hilhorst-Hofstee , Mariette J V Hoffer , Nicolette S den Hollander , Yvette van Ierland , Marije Koopmans , Marjolein Kriek , Setareh Moghadasi , Esther A R Nibbeling , Cacha M P C D Peeters-Scholte , Thomas P Potjer , Maartje van Rij , Claudia A L Ruivenkamp , Julie W Rutten , Sylke J Steggerda , Manon Suerink , Ratna N G B Tan , Karin van der Tuin , Remco Visser , Anne-Sophie van der Werf-'t Lam , Monique Williams , Ruben Witlox , Gijs W E Santen

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Brain : a journal of neurology
Avec: Marieke M van der Knoop , Reza Maroofian , Yuko Fukata , Yvette van Ierland , Ehsan G Karimiani , Anna Elina Lehesjoki , Mikko Muona , Anders Paetau , Yuri Miyazaki , Yoko Hirano , Laila Selim , Marina de França , Rodrigo Ambrosio Fock , Christian Beetz , Claudia A L Ruivenkamp , Alison J Eaton , Francois D Morneau-Jacob , Lena Sagi-Dain , Lilach Shemer-Meiri , Amir Peleg , Jumana Haddad-Halloun , Daan J Kamphuis , Cacha M P C D Peeters-Scholte , Semra Hiz Kurul , Rita Horvath , Hanns Lochmüller , David Murphy , Stephan Waldmüller , Stephanie Spranger , David Overberg , Alison M Muir , Aboulfazl Rad , Barbara Vona , Firdous Abdulwahad , Sateesh Maddirevula , Inna S Povolotskaya , Victoria Y Voinova , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Fowzan S Alkuraya , Heather C Mefford , Majid Alfadhel , Tobias B Haack , Pasquale Striano , Mariasavina Severino , Masaki Fukata , Yvonne Hilhorst-Hofstee , Henry Houlden

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

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Clinical epigenetics
Avec: Andrea Ciolfi , Erfan Aref-Eshghi , Simone Pizzi , Lucia Pedace , Evelina Miele , Jennifer Kerkhof , Elisabetta Flex , Simone Martinelli , Francesca Clementina Radio , Claudia A L Ruivenkamp , Gijs W E Santen , Emilia Bijlsma , Daniela Barge-Schaapveld , Katrin Ounap , Victoria Mok Siu , R Frank Kooy , Bruno Dallapiccola , Bekim Sadikovic , Marco Tartaglia

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

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

NPJ genomic medicine
Avec: Michael A Levy , David B Beck , Kay Metcalfe , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Muhammad Ansar , Jennifer Kerkhof , Cyril Mignot , Marie-Christine Nougues , Boris Keren , Hannah W Moore , Renske Oegema , Jacques C Giltay , Marleen Simon , Richard H van Jaarsveld , Jessica Bos , Mieke van Haelst , M Mahdi Motazacker , Elles M J Boon , Gijs W E Santen , Claudia A L Ruivenkamp , Marielle Alders , Teresa Romeo Luperchio , Leandros Boukas , Keri Ramsey , Vinodh Narayanan , G Bradley Schaefer , Roberto Bonasio , Kimberly F Doheny , Roger E Stevenson , Siddharth Banka , Bekim Sadikovic , Jill A Fahrner

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

The Phenotypic Continuum of

Neurology
Avec: Aikaterini Vezyroglou , Rhoda Akilapa , Katy Barwick , Saskia Koene , Catherine A Brownstein , Muriel Holder-Espinasse , Andrew E Fry , Andrea H Németh , George K Tofaris , Eleanor Hay , Imelda Hughes , Sahar Mansour , Santosh R Mordekar , Miranda Splitt , Peter D Turnpenny , Demetria Demetriou , Tamara T Koopmann , Claudia A L Ruivenkamp , Pankaj B Agrawal , Lucinda Carr , Virginia Clowes , Neeti Ghali , Susan Elizabeth Holder , Jessica Radley , Alison Male , Sanjay M Sisodiya , Manju A Kurian , J Helen Cross , Meena Balasubramanian

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

American journal of human genetics
Avec: Elisabetta Flex , Simone Martinelli , Anke Van Dijck , Andrea Ciolfi , Serena Cecchetti , Elisa Coluzzi , Luca Pannone , Cristina Andreoli , Francesca Clementina Radio , Simone Pizzi , Giovanna Carpentieri , Alessandro Bruselles , Giuseppina Catanzaro , Lucia Pedace , Evelina Miele , Elena Carcarino , Xiaoyan Ge , Chieko Chijiwa , M E Suzanne Lewis , Marije Meuwissen , Sandra Kenis , Nathalie Van der Aa , Austin Larson , Kathleen Brown , Melissa P Wasserstein , Brian G Skotko , Amber Begtrup , Richard Person , Maria Karayiorgou , J Louw Roos , Koen L Van Gassen , Marije Koopmans , Emilia K Bijlsma , Gijs W E Santen , Daniela Q C M Barge-Schaapveld , Claudia A L Ruivenkamp , Mariette J V Hoffer , Seema R Lalani , Haley Streff , William J Craigen , Brett H Graham , Annette P M van den Elzen , Daan J Kamphuis , Katrin Õunap , Karit Reinson , Sander Pajusalu , Monica H Wojcik , Clara Viberti , Cornelia Di Gaetano , Enrico Bertini , Simona Petrucci , Alessandro De Luca , Rossella Rota , Elisabetta Ferretti , Giuseppe Matullo , Bruno Dallapiccola , Antonella Sgura , Magdalena Walkiewicz , R Frank Kooy , Marco Tartaglia

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

HGG advances
Avec: Michael M Khayat , Jianhong Hu , Yunyun Jiang , He Li , Varuna Chander , Moez Dawood , Adam W Hansen , Shoudong Li , Jennifer Friedman , Laura Cross , Emilia K Bijlsma , Claudia A L Ruivenkamp , Francis H Sansbury , Jeffrey W Innis , Jessica Omark O'Shea , Qingchang Meng , Jill A Rosenfeld , Kirsty McWalter , Michael F Wangler , James R Lupski , Jennifer E Posey , David Murdock , Richard A Gibbs

A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.

Gene
Avec: Shimriet Zeidler , Lies Anne Severijnen , Helen de Boer , Esmay C van der Toorn , Claudia A L Ruivenkamp , Emilia K Bijlsma , Rob Willemsen

The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications.

Clinical chemistry and laboratory medicine
Avec: Paul C D Bank , Leo H J Jacobs , Sjoerd A A van den Berg , Hanneke W M van Deutekom , Dörte Hamann , Richard Molenkamp , Claudia A L Ruivenkamp , Jesse J Swen , Bastiaan B J Tops , Mirjam M C Wamelink , Els Wessels , Wytze P Oosterhuis

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

European journal of pediatrics
Avec: Michelle van Slobbe , Arie van Haeringen , Lisenka E L M Vissers , Emilia K Bijlsma , Julie W Rutten , Manon Suerink , Esther A R Nibbeling , Claudia A L Ruivenkamp , Saskia Koene

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.

European journal of human genetics : EJHG
Avec: Tamara T Koopmann , Yalda Jamshidi , Mohammad Naghibi-Sistani , Heleen M van der Klift , Hassan Birjandi , Zuhair Al-Hassnan , Abdullah Alwadai , Giovanni Zifarelli , Ehsan G Karimiani , Sahar Sedighzadeh , Amir Bahreini , Nayereh Nouri , Merlene Peter , Kyoko Watanabe , Hermine A van Duyvenvoorde , Claudia A L Ruivenkamp , Aalbertine K K Teunissen , Arend D J Ten Harkel , Sjoerd G van Duinen , Monique C Haak , Carlos E Prada , Gijs W E Santen , Reza Maroofian

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Maayke A de Koning , Monique C Haak , Phebe N Adama van Scheltema , Cacha M P C D Peeters-Scholte , Tamara T Koopmann , Esther A R Nibbeling , Emmelien Aten , Nicolette S den Hollander , Claudia A L Ruivenkamp , Mariëtte J V Hoffer , Gijs W E Santen

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

Putting genome-wide sequencing in neonates into perspective.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Emmelien Aten , Daniela Q C M Barge-Schaapveld , Emilia K Bijlsma , Regina Bökenkamp-Gramann , Laura Donker Kaat , Remco van Doorn , Dietje Fransen van de Putte , Arie van Haeringen , Arend D J Ten Harkel , Yvonne Hilhorst-Hofstee , Mariette J V Hoffer , Nicolette S den Hollander , Yvette van Ierland , Marije Koopmans , Marjolein Kriek , Setareh Moghadasi , Esther A R Nibbeling , Cacha M P C D Peeters-Scholte , Thomas P Potjer , Maartje van Rij , Claudia A L Ruivenkamp , Julie W Rutten , Sylke J Steggerda , Manon Suerink , Ratna N G B Tan , Karin van der Tuin , Remco Visser , Anne-Sophie van der Werf-'t Lam , Monique Williams , Ruben Witlox , Gijs W E Santen

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

European journal of medical genetics
Avec: Danique R M Vlaskamp , Petra M C Callenbach , Patrick Rump , Lucia A A Giannini , Eva H Brilstra , Trijnie Dijkhuizen , Yvonne J Vos , Anne-Marie F van der Kevie-Kersemaekers , Jeroen Knijnenburg , Nicole de Leeuw , Rick van Minkelen , Claudia A L Ruivenkamp , Alexander P A Stegmann , Oebele F Brouwer , Conny M A van Ravenswaaij-Arts

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

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Davor Lessel , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

Two

JID innovations : skin science from molecules to population health
Avec: Youssef Elhaji , Tessa M A van Henten , Claudia A L Ruivenkamp , Mathew Nightingale , Gijs We Santen , Lydia E Vos , Peter R Hull

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

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

American journal of medical genetics. Part A
Avec: Sulagna Tina Kushary , Anya Revah-Politi , Subit Barua , Mythily Ganapathi , Andrea Accogli , Vimla Aggarwal , Nicola Brunetti-Pierri , Gerarda Cappuccio , Valeria Capra , Christina R Fagerberg , Gabriella Gazdagh , Edwin Guzman , Medard Hadonou , Victoria Harrison , Kathrine Havelund , Daniela Iancu , Alison Kraus , Natalie C Lippa , Mahesh Mansukhani , Danielle McBrian , Meriel McEntagart , Marta Pacio-Míguez , María Palomares-Bralo , Carrie Pottinger , Claudia A L Ruivenkamp , Oliviero Sacco , Gijs W E Santen , Fernando Santos-Simarro , Marcello Scala , John Short , Kristina P Sørensen , Christopher G Woods , Auteur inconnu , Auteur inconnu , Kwame Anyane Yeboa

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Frontiers in immunology
Avec: Khaled Atmar , Claudia A L Ruivenkamp , Louise Hooimeijer , Esther A R Nibbeling , Corien L Eckhardt , Elise J Huisman , Arjan C Lankester , Marije Bartels , Gijs W E Santen , Frans J Smiers , Mirjam van der Burg , Alexander B Mohseny

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

American journal of medical genetics. Part A
Avec: Saskia Koene , Floortje Klerx-Melis , Arno Anne Willem Roest , Maarten Cornelis Kleijwegt , Marianne Bootsma , Monique C Haak , Meike Heleen van Haeringen , Claudia Antoinette Laetitia Ruivenkamp , Esther Anne Rieky Nibbeling , Arie van Haeringen

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

Human molecular genetics
Avec: Stacey R McGee , Shivakumar Rajamanickam , Sandeep Adhikari , Oluwatosin C Falayi , Theresa A Wilson , Brian J Shayota , Jessica A Cooley Coleman , Cindy Skinner , Raymond C Caylor , Roger E Stevenson , Caio Robledo D' Angioli Costa Quaio , Berenice Cunha Wilke , Jennifer M Bain , Kwame Anyane-Yeboa , Kaitlyn Brown , John M Greally , Emilia K Bijlsma , Claudia A L Ruivenkamp , Keren Politi , Lydia A Arbogast , Michael W Collard , Jodi I Huggenvik , Sarah H Elsea , Philip J Jensik

Réseau de co-auteurs

Gijs W E Santen 12 collaborations
Emilia K Bijlsma 10 collaborations
None None 7 collaborations
Arie van Haeringen 7 collaborations
Rolph Pfundt 7 collaborations
Daniela Q C M Barge-Schaapveld 6 collaborations
Cacha M P C D Peeters-Scholte 6 collaborations
Melissa Lees 5 collaborations
Nicolette S den Hollander 5 collaborations
Esther A R Nibbeling 5 collaborations
Boris Keren 4 collaborations
Alexander P A Stegmann 4 collaborations
Nobuhiko Okamoto 4 collaborations
Tamara T Koopmann 4 collaborations
Emmelien Aten 4 collaborations
Pleuntje J van der Sluijs 4 collaborations
Saskia Koene 4 collaborations
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Marjolein Kriek 3 collaborations
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Meike Heleen van Haeringen 1 collaboration
Claudia Antoinette Laetitia Ruivenkamp 1 collaboration
Esther Anne Rieky Nibbeling 1 collaboration
Stacey R McGee 1 collaboration
Shivakumar Rajamanickam 1 collaboration
Sandeep Adhikari 1 collaboration
Oluwatosin C Falayi 1 collaboration
Theresa A Wilson 1 collaboration
Brian J Shayota 1 collaboration
Jessica A Cooley Coleman 1 collaboration
Cindy Skinner 1 collaboration
Raymond C Caylor 1 collaboration
Caio Robledo D' Angioli Costa Quaio 1 collaboration
Berenice Cunha Wilke 1 collaboration
Jennifer M Bain 1 collaboration
Kwame Anyane-Yeboa 1 collaboration
Kaitlyn Brown 1 collaboration
John M Greally 1 collaboration
Keren Politi 1 collaboration
Lydia A Arbogast 1 collaboration
Michael W Collard 1 collaboration
Jodi I Huggenvik 1 collaboration
Sarah H Elsea 1 collaboration
Philip J Jensik 1 collaboration