Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola, +82

The American Journal of Human Genetics

Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics +8

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, +21

Human Mutation

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, +34

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +9

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, +52

American Journal of Medical Genetics Part A

Short StatureGeneticsRelated PhenotypeGenetic EpidemiologyPathology +20

Identification and functional characterization of<i>de novo FOXP1</i>variants provides novel insights into the etiology of neurodevelopmental disorder

Elliot Sollis, Sarah A. Graham, Arianna Vino, +9

Human Molecular Genetics

NeurogenomicsBrain DevelopmentGeneticsDisease Gene IdentificationSynaptic Signaling +18

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Peer Arts, Annet Simons, Mofareh AlZahrani, +49

Genome Medicine

Birt–Hogg–Dubé syndrome is a novel ciliopathy

Monique Luijten, Sander Basten, Tijs Claessens, +16

Human Molecular Genetics

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, +25

The American Journal of Human Genetics

Epileptic EncephalopathyDevelopmental BiologyRhobtb2 CauseGenetic DisorderDevelopmental Genetics +8

Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43

Maaike Vreeburg, Eugene A. de Zwart‐Storm, Meyke Schouten, +5

American Journal of Medical Genetics Part A

A guideline for the clinical management of basal cell naevus syndrome (Gorlin–Goltz syndrome)*

Babette J.A. Verkouteren, B. Cosgun, Marie G.H.C. Reinders, +7

British Journal of Dermatology