The mutation spectrum in RECQL4 diseases

H. Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, +18

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathology +4

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, +38

Human Mutation

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Essam Al Ageeli, Séverine Drunat, Catherine Delanöe, +12

European Journal of Medical Genetics

GeneticsPathologyNew CasesGenetic StudyMedicine +1

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus, +56

Human Molecular Genetics

Pns MyelinationDevelopmental BiologyAutoimmune DiseaseMendelian DisorderGenetic Disorder +12

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, +40

The American Journal of Human Genetics

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Valentina Grampa, Marion Delous, Mohamad Zaidan, +23

PLoS Genetics

GeneticsRenal PathologyPathologyPrimary CiliumDisease Gene Identification +14

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier, +35

American Journal of Medical Genetics Part A

Developmental AnomalyDevelopmental BiologyMolecular FindingsShort StatureGenetic Disorder +11

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, +30

The American Journal of Human Genetics

Rare CauseGeneticsPathologyNoonan SyndromeRras2 Are +2

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, +59

npj Genomic Medicine

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron, +70

Journal of Medical Genetics