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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: a case report

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy

Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Sotos syndrome: an unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

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