A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova, +18

The American Journal of Human Genetics

North American CohortMendelian DisorderGenetic DisorderMedicineGenetics +8

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark, +24

Oncotarget

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke, +37

European Journal of Medical Genetics

Genetic DisorderGeneticsPathologyDisease Gene IdentificationMedicine +2

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, +102

Genetics in Medicine

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist, +58

Nature Communications

Brain DevelopmentGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification +23

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, +44

The American Journal of Human Genetics

Neurodevelopmental DisordersAtpase ModuleDevelopmental AnomalyDevelopmental BiologyGenetic Disorder +10

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, +9

The American Journal of Human Genetics

Mendelian DisorderRearrangement TypesGenetic DisorderGeneticsPathology +2

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones, +27

Human Mutation

Cardiac MuscleSkeletal Muscle DiseasesGeneticsDistal MyopathyPathology +22

Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

Karen W. Gripp, Angela E. Lin, Linda K. Nicholson, +11

American Journal of Medical Genetics Part A

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur, +27

Journal of Medical Genetics