Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs covalently bound topoisomerase I–DNA
complexes 1, 2, 3 and is essential for preventing the formation of double-strand breaks that …

A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive
demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22…

Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

The mechanisms controlling axon guidance are of fundamental importance in understanding
brain development. Growing corticospinal and somatosensory axons cross the midline in …

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human
populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, …

Objective The giant protein titin is essential for striated muscle development, structure, and
elasticity. All titin mutations reported to date cause late‐onset, dominant disorders involving …

In this study, we report the experience of the only reference clinical next-generation sequencing
lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected …

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped
epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a …