Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome-Reference-Cited by-同舟云学术

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

Published:2024-08 Issue:8 Volume:111 Page:1605-1625
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,Bouman Arianne,Yamada Ayumi,Levy Michael,Dingemans Alexander J.M.,de Vries Bert B.A.,Ruiterkamp-Versteeg Martina,de Leeuw Nicole,Ockeloen Charlotte W.,Pfundt Rolph,de Boer Elke,Kummeling Joost,van Bon Bregje,van Bokhoven Hans,Kasri Nael Nadif,Venselaar Hanka,Alders Marielle,Kerkhof Jennifer,McConkey Haley,Kuechler Alma,Elffers Bart,van Beeck Calkoen Rixje,Hofman Susanna,Smith Audrey,Valenzuela Maria Irene,Srivastava Siddharth,Frazier Zoe,Maystadt Isabelle,Piscopo Carmelo,Merla Giuseppe,Balasubramanian Meena,Santen Gijs W.E.,Metcalfe Kay,Park Soo-Mi,Pasquier Laurent,Banka Siddharth,Donnai Dian,Weisberg Daniel,Strobl-Wildemann Gertrud,Wagemans Annemieke,Vreeburg Maaike,Baralle Diana,Foulds Nicola,Scurr Ingrid,Brunetti-Pierri Nicola,van Hagen Johanna M.,Bijlsma Emilia K.,Hakonen Anna H.,Courage Carolina,Genevieve David,Pinson Lucile,Forzano Francesca,Deshpande Charu,Kluskens Maria L.,Welling Lindsey,Plomp Astrid S.,Vanhoutte Els K.,Kalsner Louisa,Hol Janna A.,Putoux Audrey,Lazier Johanna,Vasudevan Pradeep,Ames Elizabeth,O'Shea Jessica,Lederer Damien,Fleischer Julie,O'Connor Mary,Pauly Melissa,Vasileiou Georgia,Reis André,Kiraly-Borri Catherine,Bouman Arjan,Barnett Chris,Nezarati Marjan,Borch Lauren,Beunders Gea,Özcan Kübra,Miot Stéphanie,Volker-Touw Catharina M.L.,van Gassen Koen L.I.,Cappuccio Gerarda,Janssens Katrien,Mor Nofar,Shomer Inna,Dominissini Dan,Tedder Matthew L.,Muir Alison M.,Sadikovic Bekim,Brunner Han G.,Vissers Lisenka E.L.M.,Shinkai Yoichi,Kleefstra Tjitske^ORCID

Publisher

Elsevier BV

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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes;The American Journal of Human Genetics;2024-08