Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes-Reference-Cited by-同舟云学术

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

Published:2024-08 Issue:8 Volume:111 Page:1626-1642
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Reference77 articles.

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1. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome;The American Journal of Human Genetics;2024-08