Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical
facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding a basic …

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of
chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT …

De novo variants in DDX 3X account for 1–3% of unexplained intellectual disability ( ID )
cases and are amongst the most common causes of ID especially in females. Forty‐seven …

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes
of inheritance. We undertook a systematic analysis of human chrX genes. We observe a …

Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint
contractures in two or more body areas. AMC exhibits wide phenotypic and genetic …

Purpose Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF
chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a condition …

Purpose Germline WWOX pathogenic variants have been associated with disorder of sex
differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic …

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and
disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA…

Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of
women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently…

Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked
intellectual disability, and related female carriers were unaffected. Here, we report 14 …