Tjitske Kleefstra

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

Publications (81)

The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption.

PLoS biology
Avec: Human Riahi , Carlijn Brekelmans , Sarah Foriel , Sarah H Merkling , Taylor A Lyons , Pavel M Itskov , Tjitske Kleefstra , Carlos Ribeiro , Ronald P van Rij , Jamie M Kramer , Annette Schenck

Exploring the behavioral and cognitive phenotype of KBG syndrome.

Genes, brain, and behavior
Avec: Linde C M van Dongen , Ellen Wingbermühle , William M van der Veld , Karlijn Vermeulen , Anja G Bos-Roubos , Charlotte W Ockeloen , Tjitske Kleefstra , Jos I M Egger

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Biological psychiatry
Avec: Brett V Johnson , Raman Kumar , Sabrina Oishi , Suzy Alexander , Maria Kasherman , Michelle Sanchez Vega , Atma Ivancevic , Alison Gardner , Deepti Domingo , Mark Corbett , Euan Parnell , Sehyoun Yoon , Tracey Oh , Matthew Lines , Henrietta Lefroy , Usha Kini , Margot Van Allen , Sabine Grønborg , Sandra Mercier , Sébastien Küry , Stéphane Bézieau , Laurent Pasquier , Martine Raynaud , Alexandra Afenjar , Thierry Billette de Villemeur , Boris Keren , Julie Désir , Lionel Van Maldergem , Martina Marangoni , Nicola Dikow , David A Koolen , Peter M VanHasselt , Marjan Weiss , Petra Zwijnenburg , Joaquim Sa , Claudia Falcao Reis , Carlos López-Otín , Olaya Santiago-Fernández , Alberto Fernández-Jaén , Anita Rauch , Katharina Steindl , Pascal Joset , Amy Goldstein , Suneeta Madan-Khetarpal , Elena Infante , Elaine Zackai , Carey Mcdougall , Vinodh Narayanan , Keri Ramsey , Saadet Mercimek-Andrews , Loren Pena , Vandana Shashi , Auteur inconnu , Kelly Schoch , Jennifer A Sullivan , Filippo Pinto E Vairo , Pavel N Pichurin , Sarah A Ewing , Sarah S Barnett , Eric W Klee , M Scott Perry , Mary Kay Koenig , Catherine E Keegan , Jane L Schuette , Stephanie Asher , Yezmin Perilla-Young , Laurie D Smith , Jill A Rosenfeld , Elizabeth Bhoj , Paige Kaplan , Dong Li , Renske Oegema , Ellen van Binsbergen , Bert van der Zwaag , Marie Falkenberg Smeland , Ioana Cutcutache , Matthew Page , Martin Armstrong , Angela E Lin , Marcie A Steeves , Nicolette den Hollander , Mariëtte J V Hoffer , Margot R F Reijnders , Serwet Demirdas , Daniel C Koboldt , Dennis Bartholomew , Theresa Mihalic Mosher , Scott E Hickey , Christine Shieh , Pedro A Sanchez-Lara , John M Graham , Kamer Tezcan , G B Schaefer , Noelle R Danylchuk , Alexander Asamoah , Kelly E Jackson , Naomi Yachelevich , Margaret Au , Luis A Pérez-Jurado , Tjitske Kleefstra , Peter Penzes , Stephen A Wood , Thomas Burne , Tyler Mark Pierson , Michael Piper , Jozef Gécz , Lachlan A Jolly

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

American journal of human genetics
Avec: Alexej Knaus , Fanny Kortüm , Tjitske Kleefstra , Asbjørg Stray-Pedersen , Dejan Đukić , Yoshiko Murakami , Thorsten Gerstner , Hans van Bokhoven , Zafar Iqbal , Denise Horn , Taroh Kinoshita , Maja Hempel , Peter M Krawitz

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

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.

Science advances
Avec: Mireia Coll-Tané , Naihua N Gong , Samuel J Belfer , Lara V van Renssen , Evangeline C Kurtz-Nelson , Milan Szuperak , Ilse Eidhof , Boyd van Reijmersdal , Isabel Terwindt , Jaclyn Durkin , Michel M M Verheij , Chang N Kim , Caitlin M Hudac , Tomasz J Nowakowski , Raphael A Bernier , Sigrid Pillen , Rachel K Earl , Evan E Eichler , Tjitske Kleefstra , Matthew S Kayser , Annette Schenck

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

European journal of human genetics : EJHG
Avec: Elke de Boer , Charlotte W Ockeloen , Leslie Matalonga , Rita Horvath , Auteur inconnu , Richard J Rodenburg , Marieke J H Coenen , Mirian Janssen , Dylan Henssen , Christian Gilissen , Wouter Steyaert , Ida Paramonov , Auteur inconnu , Aurélien Trimouille , Tjitske Kleefstra , Alain Verloes , Lisenka E L M Vissers

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

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

American journal of medical genetics. Part A
Avec: Nuno Maia , Nekane Ibarluzea , Mala Misra-Isrie , Daniel C Koboldt , Isabel Marques , Gabriela Soares , Rosário Santos , Carlo L M Marcelis , Riikka Keski-Filppula , Miriam Guitart , Elisabeth Gabau Vila , April Lehman , Scott Hickey , Mari Mori , Paulien Terhal , Irene Valenzuela , Amaia Lasa-Aranzasti , Anna Maria Cueto-González , Brian H Chhouk , Rebecca C Yeh , Jennifer E Neil , Bassam Abu-Libde , Tjitske Kleefstra , Mariet W Elting , Andrea Császár , Judit Kárteszi , Beáta Bessenyei , Hans van Bokhoven , Paula Jorge , Johanna M van Hagen , Arjan P M de Brouwer

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Translational psychiatry
Avec: Alexander J M Dingemans , Kim M G Truijen , Sam van de Ven , Raphael Bernier , Ernie M H F Bongers , Arjan Bouman , Laura de Graaff-Herder , Evan E Eichler , Erica H Gerkes , Christa M De Geus , Johanna M van Hagen , Philip R Jansen , Jennifer Kerkhof , Anneke J A Kievit , Tjitske Kleefstra , Saskia M Maas , Stella A de Man , Haley McConkey , Wesley G Patterson , Amy T Dobson , Eloise J Prijoles , Bekim Sadikovic , Raissa Relator , Roger E Stevenson , Connie T R M Stumpel , Malou Heijligers , Kyra E Stuurman , Katharina Löhner , Shimriet Zeidler , Jennifer A Lee , Amanda Lindy , Fanggeng Zou , Matthew L Tedder , Lisenka E L M Vissers , Bert B A de Vries

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting

Journal of medical genetics
Avec: Lottie D Morison , Elisabeth Meffert , Miriam Stampfer , Irene Steiner-Wilke , Brigitte Vollmer , Katrin Schulze , Tracy Briggs , Ruth Braden , Adam Vogel , Daisy Thompson-Lake , Chirag Patel , Edward Blair , Himanshu Goel , Samantha Turner , Ute Moog , Angelika Riess , Frederique Liegeois , David A Koolen , David J Amor , Tjitske Kleefstra , Simon E Fisher , Christiane Zweier , Angela T Morgan

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Avec: Sunil K Vasireddi , Tanja Zdolsek Draksler , Arianne Bouman , Joost Kummeling , Matthew Wheeler , Chloe Reuter , Siddharth Srivastava , Jacqueline Harris , Paul G Fisher , Sanjiv M Narayan , Paul J Wang , Nitish Badhwar , Tjitske Kleefstra , Marco V Perez

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

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

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lot Snijders Blok , Arianna Vino , Joery den Hoed , Hunter R Underhill , Danielle Monteil , Hong Li , Francis Jeshira Reynoso Santos , Wendy K Chung , Michelle D Amaral , Rhonda E Schnur , Teresa Santiago-Sim , Yue Si , Han G Brunner , Tjitske Kleefstra , Simon E Fisher

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

Clinical delineation of SETBP1 haploinsufficiency disorder.

European journal of human genetics : EJHG
Avec: Nadieh A Jansen , Ruth O Braden , Siddharth Srivastava , Erin F Otness , Gaetan Lesca , Massimiliano Rossi , Mathilde Nizon , Raphael A Bernier , Chloé Quelin , Arie van Haeringen , Tjitske Kleefstra , Maggie M K Wong , Sandra Whalen , Simon E Fisher , Angela T Morgan , Bregje W van Bon

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

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Illja J Diets , Trine Prescott , Neena L Champaigne , Grazia M S Mancini , Bård Krossnes , Radek Frič , Kristina Kocsis , Marjolijn C J Jongmans , Tjitske Kleefstra

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

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics
Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Arthur Sorlin , Julian Delanne , Sebastien Moutton , Philippe Christophe , Frederic Tran Mau-Them , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Maria Iascone , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jet van der Spek , Joery den Hoed , Lot Snijders Blok , Alexander J M Dingemans , Dick Schijven , Christoffer Nellaker , Hanka Venselaar , Galuh D N Astuti , Tahsin Stefan Barakat , E Martina Bebin , Stefanie Beck-Wödl , Gea Beunders , Natasha J Brown , Theresa Brunet , Han G Brunner , Philippe M Campeau , Goran Čuturilo , Christian Gilissen , Tobias B Haack , Irina Hüning , Ralf A Husain , Benjamin Kamien , Sze Chern Lim , Luca Lovrecic , Janine Magg , Ales Maver , Valancy Miranda , Danielle C Monteil , Charlotte W Ockeloen , Lynn S Pais , Vasilica Plaiasu , Laura Raiti , Christopher Richmond , Angelika Rieß , Eva M C Schwaibold , Marleen E H Simon , Stephanie Spranger , Tiong Yang Tan , Michelle L Thompson , Bert B A de Vries , Ella J Wilkins , Marjolein H Willemsen , Clyde Francks , Lisenka E L M Vissers , Simon E Fisher , Tjitske Kleefstra

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

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

A Genotype/Phenotype Study of

Genes
Avec: Maria Carla Borroto , Coralie Michaud , Chloé Hudon , Pankaj B Agrawal , Katherine Agre , Carolyn D Applegate , Alan H Beggs , Hans T Bjornsson , Bert Callewaert , Mei-Jan Chen , Cynthia Curry , Orrin Devinsky , Tracy Dudding-Byth , Kelly Fagan , Candice R Finnila , Ralitza Gavrilova , Casie A Genetti , Susan M Hiatt , Friedhelm Hildebrandt , Monica H Wojcik , Tjitske Kleefstra , Caroline M Kolvenbach , Bruce R Korf , Paul Kruszka , Hong Li , Jessica Litwin , Julien Marcadier , Konrad Platzer , Patrick R Blackburn , Margot R F Reijnders , Heiko Reutter , Ina Schanze , Joseph T Shieh , Cathy A Stevens , Zaheer Valivullah , Marie-José van den Boogaard , Eric W Klee , Philippe M Campeau

Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome.

American journal of medical genetics. Part A
Avec: Carmen Oldenboom , Meggie M C M Drissen , Linde C M van Dongen , Tjitske Kleefstra , Judith B Prins , Jos I M Egger , Nicoline Hoogerbrugge

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

A complex structural variant near

HGG advances
Avec: Elke de Boer , Carlo Marcelis , Kornelia Neveling , Ellen van Beusekom , Alexander Hoischen , Willemijn M Klein , Nicole de Leeuw , Tuomo Mantere , Uirá S Melo , Jeroen van Reeuwijk , Dominique Smeets , Malte Spielmann , Tjitske Kleefstra , Hans van Bokhoven , Lisenka E L M Vissers

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Journal of medical genetics
Avec: Lottie D Morison , Milou G P Kennis , Dmitrijs Rots , Arianne Bouman , Joost Kummeling , Elizabeth Palmer , Adam P Vogel , Frederique Liegeois , Amanda Brignell , Siddharth Srivastava , Zoe Frazier , Di Milnes , Himanshu Goel , David J Amor , Ingrid E Scheffer , Tjitske Kleefstra , Angela T Morgan

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances
Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Raissa Relator , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Antonio Vitobello , Leonie A Menke

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.

Cell reports
Avec: Monica Frega , Martijn Selten , Britt Mossink , Jason M Keller , Katrin Linda , Rebecca Moerschen , Jieqiong Qu , Pierre Koerner , Sophie Jansen , Astrid Oudakker , Tjitske Kleefstra , Hans van Bokhoven , Huiqing Zhou , Dirk Schubert , Nael Nadif Kasri

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

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

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

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry
Avec: S Riazuddin , M Hussain , A Razzaq , Z Iqbal , M Shahzad , D L Polla , Y Song , E van Beusekom , A A Khan , L Tomas-Roca , M Rashid , M Y Zahoor , W M Wissink-Lindhout , M A R Basra , M Ansar , Z Agha , K van Heeswijk , F Rasheed , M Van de Vorst , J A Veltman , C Gilissen , J Akram , T Kleefstra , M Z Assir , Auteur inconnu , D Grozeva , K Carss , F L Raymond , T D O'Connor , S A Riazuddin , S N Khan , Z M Ahmed , A P M de Brouwer , H van Bokhoven , S Riazuddin

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

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

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.

Stem cell reports
Avec: Britt Mossink , Anouk H A Verboven , Eline J H van Hugte , Teun M Klein Gunnewiek , Giulia Parodi , Katrin Linda , Chantal Schoenmaker , Tjitske Kleefstra , Tamas Kozicz , Hans van Bokhoven , Dirk Schubert , Nael Nadif Kasri , Monica Frega

Human

Journal of neurophysiology
Avec: Aguan D Wei , Paul Wakenight , Theresa A Zwingman , Angela M Bard , Nikhil Sahai , Marjolein H Willemsen , Helenius J Schelhaas , Alexander P A Stegmann , Judith S Verhoeven , Stella A de Man , Marja W Wessels , Tjitske Kleefstra , Deepali N Shinde , Katherine L Helbig , Alice Basinger , Victoria F Wagner , David Rodriguez-Buritica , Emily Bryant , John J Millichap , Kathleen J Millen , William B Dobyns , Jan-Marino Ramirez , Franck K Kalume

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

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

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Nature genetics
Avec: Alan P Tenney , Silvio Alessandro Di Gioia , Bryn D Webb , Wai-Man Chan , Elke de Boer , Sarah J Garnai , Brenda J Barry , Tammy Ray , Michael Kosicki , Caroline D Robson , Zhongyang Zhang , Thomas E Collins , Alon Gelber , Brandon M Pratt , Yuko Fujiwara , Arushi Varshney , Monkol Lek , Peter E Warburton , Carol Van Ryzin , Tanya J Lehky , Christopher Zalewski , Kelly A King , Carmen C Brewer , Audrey Thurm , Joseph Snow , Flavia M Facio , Narisu Narisu , Lori L Bonnycastle , Amy Swift , Peter S Chines , Jessica L Bell , Suresh Mohan , Mary C Whitman , Sandra E Staffieri , James E Elder , Joseph L Demer , Alcy Torres , Elza Rachid , Christiane Al-Haddad , Rose-Mary Boustany , David A Mackey , Angela F Brady , María Fenollar-Cortés , Melanie Fradin , Tjitske Kleefstra , George W Padberg , Salmo Raskin , Mario Teruo Sato , Stuart H Orkin , Stephen C J Parker , Tessa A Hadlock , Lisenka E L M Vissers , Hans van Bokhoven , Ethylin Wang Jabs , Francis S Collins , Len A Pennacchio , Irini Manoli , Elizabeth C Engle

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Clinical genetics
Avec: Alessandra Rossi , Lot Snijders Blok , Sonja Neuser , Chiara Klöckner , Konrad Platzer , Laurence Olivier Faivre , Heike Weigand , Maria L Dentici , Marco Tartaglia , Marcello Niceta , Paolo Alfieri , Siddharth Srivastava , David Coulter , Lacey Smith , Kristin Vinorum , Gerarda Cappuccio , Nicola Brunetti-Pierri , Deniz Torun , Mutluay Arslan , Mathilde F Lauridsen , Oliver Murch , Rachel Irving , Sally A Lynch , Sarju G Mehta , Jenny Carmichael , Evelien Zonneveld-Huijssoon , Bert de Vries , Tjitske Kleefstra , Katrine M Johannesen , Ian T Westphall , Susan S Hughes , Sarah Smithson , Julie Evans , Tracy Dudding-Byth , Marleen Simon , Ellen van Binsbergen , Johanna C Herkert , Gea Beunders , Henry Oppermann , Mert Bakal , Rikke S Møller , Guido Rubboli , Allan Bayat

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG
Avec: Alix Paulet , Cavan Bennett-Ness , Faustine Ageorges , Detlef Trost , Andrew Green , David Goudie , Rosalyn Jewell , Minna Kraatari-Tiri , Juliette Piard , Christine Coubes , Wayne Lam , Sally Ann Lynch , Groeschel Samuel , Francis Ramond , Joël Fluss , Christina Fagerberg , Charlotte Brasch Andersen , Konstantinos Varvagiannis , Tjitske Kleefstra , Bénédicte Gérard , Mélanie Fradin , Antonio Vitobello , Romano Tenconi , Anne-Sophie Denommé-Pichon , Aline Vincent-Devulder , Tobias Haack , Joseph A Marsh , Lone Walentin Laulund , Mona Grimmel , Angelika Riess , Elke de Boer , Sergio Padilla-Lopez , Somayeh Bakhtiari , Michael C Kruer , Jonathan Levy , Alain Verloes , Catherine M Abbott , Lyse Ruaud

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Biological psychiatry
Avec: Anke Van Dijck , Anneke T Vulto-van Silfhout , Elisa Cappuyns , Ilse M van der Werf , Grazia M Mancini , Andreas Tzschach , Raphael Bernier , Illana Gozes , Evan E Eichler , Corrado Romano , Anna Lindstrand , Ann Nordgren , Auteur inconnu , Malin Kvarnung , Tjitske Kleefstra , Bert B A de Vries , Sébastien Küry , Jill A Rosenfeld , Marije E Meuwissen , Geert Vandeweyer , R Frank Kooy

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Frontiers in genetics
Avec: Christoffer Nellåker , Fowzan S Alkuraya , Gareth Baynam , Raphael A Bernier , Francois P J Bernier , Vanessa Boulanger , Michael Brudno , Han G Brunner , Jill Clayton-Smith , Benjamin Cogné , Hugh J S Dawkins , Bert B A deVries , Sofia Douzgou , Tracy Dudding-Byth , Evan E Eichler , Michael Ferlaino , Karen Fieggen , Helen V Firth , David R FitzPatrick , Dylan Gration , Tudor Groza , Melissa Haendel , Nina Hallowell , Ada Hamosh , Jayne Hehir-Kwa , Marc-Phillip Hitz , Mark Hughes , Usha Kini , Tjitske Kleefstra , R Frank Kooy , Peter Krawitz , Sébastien Küry , Melissa Lees , Gholson J Lyon , Stanislas Lyonnet , Julien L Marcadier , Stephen Meyn , Veronika Moslerová , Juan M Politei , Cathryn C Poulton , F Lucy Raymond , Margot R F Reijnders , Peter N Robinson , Corrado Romano , Catherine M Rose , David C G Sainsbury , Lyn Schofield , Vernon R Sutton , Marek Turnovec , Anke Van Dijck , Hilde Van Esch , Andrew O M Wilkie , Auteur inconnu

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

SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders.

Frontiers in molecular neuroscience
Avec: Shan Wang , Anna Bleeck , Nael Nadif Kasri , Tjitske Kleefstra , Jon-Ruben van Rhijn , Dirk Schubert

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

Missense variant contribution to USP9X-female syndrome.

NPJ genomic medicine
Avec: Lachlan A Jolly , Euan Parnell , Alison E Gardner , Mark A Corbett , Luis A Pérez-Jurado , Marie Shaw , Gaetan Lesca , Catherine Keegan , Michael C Schneider , Emily Griffin , Felicitas Maier , Courtney Kiss , Andrea Guerin , Kathleen Crosby , Kenneth Rosenbaum , Pranoot Tanpaiboon , Sandra Whalen , Boris Keren , Julie McCarrier , Donald Basel , Simon Sadedin , Susan M White , Martin B Delatycki , Tjitske Kleefstra , Sébastien Küry , Alfredo Brusco , Elena Sukarova-Angelovska , Slavica Trajkova , Sehoun Yoon , Stephen A Wood , Michael Piper , Peter Penzes , Jozef Gecz

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

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marije Meuwissen , Aline Verstraeten , Emmanuelle Ranza , Justyna Iwaszkiewicz , Maaike Bastiaansen , Ligia Mateiu , Merlijn Nemegeer , Josephina A N Meester , Alexandra Afenjar , Michelle Amaral , Diana Ballhausen , Sarah Barnett , Magalie Barth , Bob Asselbergh , Katrien Spaas , Bavo Heeman , Jennifer Bassetti , Patrick Blackburn , Marie Schaer , Xavier Blanc , Vincent Zoete , Kari Casas , Thomas Courtin , Diane Doummar , Frédéric Guerry , Boris Keren , John Pappas , Rachel Rabin , Amber Begtrup , Marwan Shinawi , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , Matias Wagner , Alban Ziegler , Elise Schaefer , Benedicte Gerard , Charlotte I De Bie , Sjoerd J B Holwerda , Mary Alice Abbot , Stylianos E Antonarakis , Bart Loeys

Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.

Genes, brain, and behavior
Avec: Lot Snijders Blok , Y Max Goosen , Leenke van Haaften , Karen van Hulst , Simon E Fisher , Han G Brunner , Jos I M Egger , Tjitske Kleefstra

Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders.

Genes
Avec: Lisa Geertjens , Torben W van Voorst , Arianne Bouman , Maaike A van Boven , Tjitske Kleefstra , Matthijs Verhage , Klaus Linkenkaer-Hansen , Nael Nadif Kasri , L Niels Cornelisse , Hilgo Bruining

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

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

EBioMedicine
Avec: Francesco Miceli , Charissa Millevert , Maria Virginia Soldovieri , Ilaria Mosca , Paolo Ambrosino , Lidia Carotenuto , Dewi Schrader , Hyun Kyung Lee , James Riviello , William Hong , Sarah Risen , Lisa Emrick , Hitha Amin , Dorothée Ville , Patrick Edery , Julitta de Bellescize , Vincent Michaud , Julien Van-Gils , Cyril Goizet , Marjolein H Willemsen , Tjitske Kleefstra , Rikke S Møller , Allan Bayat , Orrin Devinsky , Tristan Sands , G Christoph Korenke , Gerhard Kluger , Heather C Mefford , Eva Brilstra , Gaetan Lesca , Mathieu Milh , Edward C Cooper , Maurizio Taglialatela , Sarah Weckhuysen

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

HGG advances
Avec: Lot Snijders Blok , Jolijn Verseput , Dmitrijs Rots , Hanka Venselaar , A Micheil Innes , Connie Stumpel , Katrin Õunap , Karit Reinson , Eleanor G Seaby , Shane McKee , Barbara Burton , Katherine Kim , Johanna M van Hagen , Quinten Waisfisz , Pascal Joset , Katharina Steindl , Anita Rauch , Dong Li , Elaine H Zackai , Sarah E Sheppard , Beth Keena , Hakon Hakonarson , Andreas Roos , Nicolai Kohlschmidt , Anna Cereda , Maria Iascone , Erika Rebessi , Kristin D Kernohan , Philippe M Campeau , Francisca Millan , Jesse A Taylor , Hanns Lochmüller , Martin R Higgs , Amalia Goula , Birgitta Bernhard , Danita J Velasco , Andrew A Schmanski , Zornitza Stark , Lyndon Gallacher , Lynn Pais , Paul C Marcogliese , Shinya Yamamoto , Nicholas Raun , Taryn E Jakub , Jamie M Kramer , Joery den Hoed , Simon E Fisher , Han G Brunner , Tjitske Kleefstra

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Epilepsia open
Avec: Nathan Buijsse , Floor E Jansen , Charlotte W Ockeloen , Marjan J A van Kempen , Shimriet Zeidler , Marjolein H Willemsen , Emanuela Scarano , Sonia Monticone , Evelien Zonneveld-Huijssoon , Karen J Low , Allan Bayat , Sanjay M Sisodiya , Debopam Samanta , Gaetan Lesca , Danielle de Jong , Jaqcues C Giltay , Nienke E Verbeek , Tjitske Kleefstra , Eva H Brilstra , Danique R M Vlaskamp

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics
Avec: Francesca Peluso , Stefano G Caraffi , Gianluca Contrò , Lara Valeri , Manuela Napoli , Giorgia Carboni , Alka Seth , Roberta Zuntini , Emanuele Coccia , Guja Astrea , Anne-Marie Bisgaard , Ivan Ivanovski , Silvia Maitz , Elise Brischoux-Boucher , Melissa T Carter , Maria Lisa Dentici , Koenraad Devriendt , Melissa Bellini , Maria Cristina Digilio , Asif Doja , David A Dyment , Stense Farholt , Carlos R Ferreira , Lynne A Wolfe , William A Gahl , Maria Gnazzo , Himanshu Goel , Sabine Weller Grønborg , Trine Hammer , Lorenzo Iughetti , Tjitske Kleefstra , David A Koolen , Francesca Romana Lepri , Gabrielle Lemire , Pedro Louro , Gary McCullagh , Simona F Madeo , Annarita Milone , Roberta Milone , Jens Erik Klint Nielsen , Antonio Novelli , Charlotte W Ockeloen , Rosario Pascarella , Tommaso Pippucci , Ivana Ricca , Stephen P Robertson , Sarah Sawyer , Marie Falkenberg Smeland , Sander Stegmann , Constanze T Stumpel , Amy Goel , Juliet M Taylor , Domenico Barbuti , Annarosa Soresina , Maria Francesca Bedeschi , Roberta Battini , Anna Cavalli , Carlo Fusco , Maria Iascone , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.

American journal of medical genetics. Part A
Avec: Arianne Bouman , Joyce M Geelen , Joost Kummeling , Annette Schenck , Yvonne G van der Zwan , Willemijn M Klein , Tjitske Kleefstra

Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.

Journal of intellectual disability research : JIDR
Avec: L C M van Dongen , P A M Wingbermühle , W M van der Veld , C Stumpel , T Kleefstra , J I M Egger

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

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.

Nature communications
Avec: Monica Frega , Katrin Linda , Jason M Keller , Güvem Gümüş-Akay , Britt Mossink , Jon-Ruben van Rhijn , Moritz Negwer , Teun Klein Gunnewiek , Katharina Foreman , Nine Kompier , Chantal Schoenmaker , Willem van den Akker , Ilse van der Werf , Astrid Oudakker , Huiqing Zhou , Tjitske Kleefstra , Dirk Schubert , Hans van Bokhoven , Nael Nadif Kasri

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Human mutation
Avec: Gemma L Carvill , Katherine L Helbig , Candace T Myers , Marcello Scala , Robert Huether , Sara Lewis , Tyler N Kruer , Brandon S Guida , Somayeh Bakhtiari , Joy Sebe , Sha Tang , Heather Stickney , Sehribani Ulusoy Oktay , Ashwin A Bhandiwad , Keri Ramsey , Vinodh Narayanan , Timothy Feyma , Luis O Rohena , Andrea Accogli , Mariasavina Severino , Georgina Hollingsworth , Deepak Gill , Christel Depienne , Caroline Nava , Lynette G Sadleir , Paul A Caruso , Angela E Lin , Floor E Jansen , Bobby Koeleman , Eva Brilstra , Marjolein H Willemsen , Tjitske Kleefstra , Joaquim Sa , Marie-Laure Mathieu , Laurine Perrin , Gaetan Lesca , Pasquale Striano , Giorgio Casari , Ingrid E Scheffer , David Raible , Evelyn Sattlegger , Valeria Capra , Sergio Padilla-Lopez , Heather C Mefford , Michael C Kruer

Behavior and cognitive functioning in Witteveen-Kolk syndrome.

American journal of medical genetics. Part A
Avec: Linde C M van Dongen , Ellen Wingbermühle , Alexander J M Dingemans , Anja G Bos-Roubos , Karlijn Vermeulen , Monica Pop-Purceleanu , Tjitske Kleefstra , Jos I M Egger

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

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.

Cell reports
Avec: Shan Wang , Jon-Ruben van Rhijn , Ibrahim Akkouh , Naoki Kogo , Nadine Maas , Anna Bleeck , Irene Santisteban Ortiz , Elly Lewerissa , Ka Man Wu , Chantal Schoenmaker , Srdjan Djurovic , Hans van Bokhoven , Tjitske Kleefstra , Nael Nadif Kasri , Dirk Schubert

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

Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.

Clinical neuropsychiatry
Avec: Joost Kummeling , Karlijn Vermeulen-Kalk , Veerle Souverein , Linde C M van Dongen , Wouter Oomens , Joost G E Janzing , Monica Pop-Purceleanu , Tjitske Kleefstra , Jos I M Egger

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.

BMC psychiatry
Avec: Romain Coutelle , Morgane Boedec , Karlijn Vermeulen , Joost Kummeling , David A Koolen , Tjitske Kleefstra , Camille Fournier , Florent Colin , Axelle Strehle , David Geneviève , Pauline Burger , Jean-Louis Mandel

[Genetics and neurodevelopmental disorders].

Tijdschrift voor psychiatrie
Avec: K Vermeulen-Kalk , T Kleefstra

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.

Journal of clinical medicine
Avec: Ellen Wingbermühle , Renée L Roelofs , Wouter Oomens , Jennifer Kramer , Jos M T Draaisma , Erika Leenders , Tjitske Kleefstra , Roy P C Kessels , Jos I M Egger

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

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.

Journal of neural transmission (Vienna, Austria : 1996)
Avec: Pauline Burger , Florent Colin , Axelle Strehle , Timothée Mazzucotelli , Nicole Collot , Romain Coutelle , Benjamin Durand , Arianne Bouman , Daphna Landau Prat , Tjitske Kleefstra , Pierre Parrend , Amélie Piton , David A Koolen , Jean-Louis Mandel

Réseau de co-auteurs

Rolph Pfundt 28 collaborations
None None 21 collaborations
Lisenka E L M Vissers 18 collaborations
Han G Brunner 18 collaborations
Boris Keren 13 collaborations
Alexander J M Dingemans 13 collaborations
David A Koolen 12 collaborations
Bert B A de Vries 12 collaborations
Simon E Fisher 11 collaborations
Charlotte W Ockeloen 10 collaborations
Christian Gilissen 10 collaborations
Laurence Faivre 10 collaborations
Alexandra Afenjar 9 collaborations
Hans van Bokhoven 9 collaborations
Elke de Boer 9 collaborations
Lot Snijders Blok 9 collaborations
Marjolein H Willemsen 9 collaborations
Antonio Vitobello 9 collaborations
Alexander P A Stegmann 8 collaborations
Philippe M Campeau 8 collaborations
Dmitrijs Rots 8 collaborations
Ellen van Binsbergen 7 collaborations
Joost Kummeling 7 collaborations
Bekim Sadikovic 7 collaborations
Maria Iascone 7 collaborations
Gaetan Lesca 7 collaborations
Jos I M Egger 6 collaborations
Margot R F Reijnders 6 collaborations
Margje Sinnema 6 collaborations
Jeroen van Reeuwijk 6 collaborations
Nicole de Leeuw 6 collaborations
Johanna M van Hagen 6 collaborations
Raissa Relator 6 collaborations
Arianne Bouman 6 collaborations
Bregje W van Bon 6 collaborations
Anneke T Vulto-van Silfhout 6 collaborations
Hanka Venselaar 6 collaborations
Koen L I van Gassen 6 collaborations
Dirk Schubert 6 collaborations
Nael Nadif Kasri 6 collaborations
Usha Kini 5 collaborations
Jill A Rosenfeld 5 collaborations
Evan E Eichler 5 collaborations
Jennifer Kerkhof 5 collaborations
Siddharth Srivastava 5 collaborations
Sandra Jansen 5 collaborations
A Micheil Innes 5 collaborations
Joery den Hoed 5 collaborations
Caroline Nava 5 collaborations
Marco Tartaglia 5 collaborations
Julien Thevenon 5 collaborations
Jamie M Kramer 4 collaborations
Linde C M van Dongen 4 collaborations
Sébastien Küry 4 collaborations
Anita Rauch 4 collaborations
Pascal Joset 4 collaborations
Dong Li 4 collaborations
Maja Hempel 4 collaborations
Raphael A Bernier 4 collaborations
Connie T R M Stumpel 4 collaborations
Haley McConkey 4 collaborations
Himanshu Goel 4 collaborations
Christiane Zweier 4 collaborations
R Frank Kooy 4 collaborations
Konrad Platzer 4 collaborations
Ruth Newbury-Ecob 4 collaborations
Evelien Zonneveld-Huijssoon 4 collaborations
Kirsty McWalter 4 collaborations
Illja J Diets 4 collaborations
Katrin Õunap 4 collaborations
Shelagh Joss 4 collaborations
Elise Brischoux-Boucher 4 collaborations
Siddharth Banka 4 collaborations
Anne-Sophie Denommé-Pichon 4 collaborations
Ange-Line Bruel 4 collaborations
Michael A Levy 4 collaborations
Justine Rousseau 4 collaborations
Steven A Skinner 4 collaborations
Marcia Willing 4 collaborations
Raymond J Louie 4 collaborations
Matias Wagner 4 collaborations
Allan Bayat 4 collaborations
Annette Schenck 3 collaborations
Ellen Wingbermühle 3 collaborations
Karlijn Vermeulen 3 collaborations
Petra Zwijnenburg 3 collaborations
Katharina Steindl 3 collaborations
Vandana Shashi 3 collaborations
Jennifer A Sullivan 3 collaborations
Eric W Klee 3 collaborations
Elizabeth Bhoj 3 collaborations
Renske Oegema 3 collaborations
Marcie A Steeves 3 collaborations
Serwet Demirdas 3 collaborations
Fanny Kortüm 3 collaborations
Alain Verloes 3 collaborations
Michael Kwint 3 collaborations
Tuula Rinne 3 collaborations
Helger G Yntema 3 collaborations
Irene Valenzuela 3 collaborations
Arjan P M de Brouwer 3 collaborations
Roger E Stevenson 3 collaborations
David J Amor 3 collaborations
Angela T Morgan 3 collaborations
Carlo Marcelis 3 collaborations
Marjolein Willemsen 3 collaborations
Gijs W E Santen 3 collaborations
Jill Clayton-Smith 3 collaborations
Gerarda Cappuccio 3 collaborations
Nicola Brunetti-Pierri 3 collaborations
Jonas Denecke 3 collaborations
Emilia K Bijlsma 3 collaborations
Jane Juusola 3 collaborations
Rami Abou Jamra 3 collaborations
Martin B Delatycki 3 collaborations
Lynn Pais 3 collaborations
Rhonda E Schnur 3 collaborations
Sofia Douzgou 3 collaborations
Bertrand Isidor 3 collaborations
Erika Leenders 3 collaborations
Arie van Haeringen 3 collaborations
Tony Roscioli 3 collaborations
David A Dyment 3 collaborations
Mathilde Nizon 3 collaborations
Sandra Whalen 3 collaborations
Corrado Romano 3 collaborations
Heather C Mefford 3 collaborations
Ingrid E Scheffer 3 collaborations
Jozef Gecz 3 collaborations
Marcello Niceta 3 collaborations
Naomichi Matsumoto 3 collaborations
Christophe Philippe 3 collaborations
Laurens Wiel 3 collaborations
Pelagia Deriziotis 3 collaborations
Megan T Cho 3 collaborations
Isabelle Thiffault 3 collaborations
Claudia Ruivenkamp 3 collaborations
Arthur Sorlin 3 collaborations
Gea Beunders 3 collaborations
Tobias B Haack 3 collaborations
Rosalyn Jewell 3 collaborations
Constance T R M Stumpel 3 collaborations
Benjamin Cogné 3 collaborations
Christel Thauvin-Robinet 3 collaborations
Orrin Devinsky 3 collaborations
Tracy Dudding-Byth 3 collaborations
Adam Jackson 3 collaborations
Andrea Ciolfi 3 collaborations
Mariëlle Alders 3 collaborations
Alfredo Brusco 3 collaborations
Monica Frega 3 collaborations
Britt Mossink 3 collaborations
Katrin Linda 3 collaborations
Sophie Ehresmann 3 collaborations
Lance H Rodan 3 collaborations
Elise Fiala 3 collaborations
Arnaud Isapof 3 collaborations
Ingrid M Wentzensen 3 collaborations
Eva H Brilstra 3 collaborations
Johannes A Mayr 3 collaborations
Tatjana Bierhals 3 collaborations
T Kleefstra 3 collaborations
Chantal Schoenmaker 3 collaborations
Somayeh Bakhtiari 3 collaborations
Jon-Ruben van Rhijn 3 collaborations
Anja G Bos-Roubos 2 collaborations
Euan Parnell 2 collaborations
Martine Raynaud 2 collaborations
Thierry Billette de Villemeur 2 collaborations
Lionel Van Maldergem 2 collaborations
Joaquim Sa 2 collaborations
Alberto Fernández-Jaén 2 collaborations
Amy Goldstein 2 collaborations
Suneeta Madan-Khetarpal 2 collaborations
Vinodh Narayanan 2 collaborations
Keri Ramsey 2 collaborations
Saadet Mercimek-Andrews 2 collaborations
Marie Falkenberg Smeland 2 collaborations
Angela E Lin 2 collaborations
Mariëtte J V Hoffer 2 collaborations
Daniel C Koboldt 2 collaborations
Naomi Yachelevich 2 collaborations
Luis A Pérez-Jurado 2 collaborations
Peter Penzes 2 collaborations
Stephen A Wood 2 collaborations
Michael Piper 2 collaborations
Lachlan A Jolly 2 collaborations
Binnaz Yalcin 2 collaborations
Tomasz J Nowakowski 2 collaborations
Leslie Matalonga 2 collaborations
Aurélien Trimouille 2 collaborations
Gaby Schobers 2 collaborations
Jordi Corominas Galbany 2 collaborations
Martina Ruiterkamp-Versteeg 2 collaborations
Ronny Derks 2 collaborations
Amaia Lasa-Aranzasti 2 collaborations
Mariet W Elting 2 collaborations
Kim M G Truijen 2 collaborations
Raphael Bernier 2 collaborations
Erica H Gerkes 2 collaborations
Stella A de Man 2 collaborations
Wesley G Patterson 2 collaborations
Eloise J Prijoles 2 collaborations
Kyra E Stuurman 2 collaborations
Katharina Löhner 2 collaborations
Shimriet Zeidler 2 collaborations
Jennifer A Lee 2 collaborations
Fanggeng Zou 2 collaborations
Matthew L Tedder 2 collaborations
Lottie D Morison 2 collaborations
Angelika Riess 2 collaborations
Frederique Liegeois 2 collaborations
Jacqueline Harris 2 collaborations
Janneke Schuurs-Hoeijmakers 2 collaborations
Pleuntje J van der Sluijs 2 collaborations
Grazia M S Mancini 2 collaborations
Michelle L Thompson 2 collaborations
E Martina Bebin 2 collaborations
Anne Slavotinek 2 collaborations
Chiara Klöckner 2 collaborations
Julie Evans 2 collaborations
Sarah Smithson 2 collaborations
Lyndon Gallacher 2 collaborations
Michael Field 2 collaborations
Perrine Charles 2 collaborations
Thomas Courtin 2 collaborations
Anna Cereda 2 collaborations
Stephen P Robertson 2 collaborations
Stanislas Lyonnet 2 collaborations
Hong Li 2 collaborations
Wendy K Chung 2 collaborations
Teresa Santiago-Sim 2 collaborations
Pradeep Vasudevan 2 collaborations
Solveig Heide 2 collaborations
Alice S Brooks 2 collaborations
Marie Vincent 2 collaborations
Susan M White 2 collaborations
Davor Lessel 2 collaborations
Aida Telegrafi 2 collaborations
Matthew Osmond 2 collaborations
John Pappas 2 collaborations
Rachel Rabin 2 collaborations
Thatjana Gardeitchik 2 collaborations
Patrick Rump 2 collaborations
M E Suzanne Lewis 2 collaborations
Maggie M K Wong 2 collaborations
Paul C Marcogliese 2 collaborations
Servi J C Stevens 2 collaborations
Charles E Schwartz 2 collaborations
Lisa Emrick 2 collaborations
Marjan M Weiss 2 collaborations
Quinten Waisfisz 2 collaborations
Shinya Yamamoto 2 collaborations
Neena L Champaigne 2 collaborations
Marjolijn C J Jongmans 2 collaborations
Hester Y Kroes 2 collaborations
Helen V Firth 2 collaborations
Monica H Wojcik 2 collaborations
Sha Tang 2 collaborations
Deepali N Shinde 2 collaborations
Maria Lisa Dentici 2 collaborations
Nicholas Raun 2 collaborations
Marleen E H Simon 2 collaborations
Casie A Genetti 2 collaborations
Pankaj B Agrawal 2 collaborations
Eva M C Schwaibold 2 collaborations
Deniz Top 2 collaborations
Martin R Higgs 2 collaborations
Amber Begtrup 2 collaborations
Karin Weiss 2 collaborations
Hilary J Vernon 2 collaborations
Paul Kruszka 2 collaborations
F Lucy Raymond 2 collaborations
Florence Demurger 2 collaborations
Chanika Phornphutkul 2 collaborations
Christoffer Nellaker 2 collaborations
Theresa Brunet 2 collaborations
Lynn S Pais 2 collaborations
Angelika Rieß 2 collaborations
Stephanie Spranger 2 collaborations
Erik-Jan Kamsteeg 2 collaborations
Sanaa Choufani 2 collaborations
Nicola Foulds 2 collaborations
Elaine H Zackai 2 collaborations
Zaheer Valivullah 2 collaborations
George E Tiller 2 collaborations
Sarah Josephi-Taylor 2 collaborations
Oana Caluseriu 2 collaborations
Zoe Frazier 2 collaborations
Milou G P Kennis 2 collaborations
Rosanna Weksberg 2 collaborations
Bert Callewaert 2 collaborations
Nicoline Hoogerbrugge 2 collaborations
Alexander Hoischen 2 collaborations
Sébastien Moutton 2 collaborations
Simone Pizzi 2 collaborations
Max Hinne 2 collaborations
Jet Coenen-van der Spek 2 collaborations
Hilde Van Esch 2 collaborations
Gholson J Lyon 2 collaborations
Fowzan S Alkuraya 2 collaborations
Marcel A J van Gerven 2 collaborations
Willemijn M Klein 2 collaborations
Kathleen Rooney 2 collaborations
Slavica Trajkova 2 collaborations
María Palomares-Bralo 2 collaborations
Amélie Piton 2 collaborations
Marcel M A M Mannens 2 collaborations
Peter Henneman 2 collaborations
Jason M Keller 2 collaborations
Astrid Oudakker 2 collaborations
Huiqing Zhou 2 collaborations
Mouna Barat-Houari 2 collaborations
Julien Van-Gils 2 collaborations
Christèle Dubourg 2 collaborations
Gaël Nicolas 2 collaborations
Nicolas Chatron 2 collaborations
Cyril Mignot 2 collaborations
Marie Shaw 2 collaborations
Joanna Twist 2 collaborations
Motoki Takaku 2 collaborations
Catherine B Nowak 2 collaborations
Jessica Douglas 2 collaborations
Kathryn J Swoboda 2 collaborations
Inderneel Sahai 2 collaborations
Patricia Wheeler 2 collaborations
Aaina Kochhar 2 collaborations
William T Gibson 2 collaborations
Ana S A Cohen 2 collaborations
Ruky Agbahovbe 2 collaborations
P Y Billie Au 2 collaborations
Julia Rankin 2 collaborations
Ilse J Anderson 2 collaborations
Hannah E Warren 2 collaborations
Julien Buratti 2 collaborations
Diana Rodriguez 2 collaborations
Raymond Lewandowski 2 collaborations
Jennifer Propst 2 collaborations
Ton van Essen 2 collaborations
Murim Choi 2 collaborations
Sangmoon Lee 2 collaborations
Jong H Chae 2 collaborations
Susan Price 2 collaborations
Ganka Douglas 2 collaborations
André Reis 2 collaborations
Martin G Bialer 2 collaborations
Christine Moore 2 collaborations
Marije Koopmans 2 collaborations
Glen R Monroe 2 collaborations
Lucy Bownass 2 collaborations
Ingrid Bader 2 collaborations
Saskia B Wortmann 2 collaborations
Kathy J Jakielski 2 collaborations
Edythe A Strand 2 collaborations
Katja Kloth 2 collaborations
John D Roberts 2 collaborations
Robert M Petrovich 2 collaborations
Shinichi Machida 2 collaborations
Hitoshi Kurumizaka 2 collaborations
Stefan Lelieveld 2 collaborations
Mirna Assoum 2 collaborations
Lawrence Shriberg 2 collaborations
Paul A Wade 2 collaborations
Nienke Verbeek 2 collaborations
Jayne Y Hehir-Kwa 2 collaborations
S Riazuddin 2 collaborations
Andrew O M Wilkie 2 collaborations
Kristin Lindstrom 2 collaborations
Kristin G Monaghan 2 collaborations
Marleen Simon 2 collaborations
Katherine L Helbig 2 collaborations
Martin Larsen 2 collaborations
Christina Fagerberg 2 collaborations
Lone Walentin Laulund 2 collaborations
Taryn E Jakub 2 collaborations
Richard H van Jaarsveld 2 collaborations
Francois Lecoquierre 2 collaborations
Charlotte Brasch Andersen 2 collaborations
David B Everman 2 collaborations
Wallid Deb 2 collaborations
Andrew A Schmanski 2 collaborations
Livia Garavelli 2 collaborations
Stefano G Caraffi 2 collaborations
Francesca Peluso 2 collaborations
Stephen W Scherer 2 collaborations
Maria Francesca Bedeschi 2 collaborations
Michael F Buckley 2 collaborations
Sally A Lynch 2 collaborations
Rikke S Møller 2 collaborations
Juliette Piard 2 collaborations
Romano Tenconi 2 collaborations
Sergio Padilla-Lopez 2 collaborations
Michael C Kruer 2 collaborations
Anke Van Dijck 2 collaborations
Malin Kvarnung 2 collaborations
Stephen Meyn 2 collaborations
Marwan Shinawi 2 collaborations
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