Purpose Lamins are the major component of nuclear lamina, maintaining structural integrity
of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders …

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in
reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4 …

Aims To examine the relevance of genetic and cardiovascular magnetic resonance (CMR)
features of dilated cardiomyopathy (DCM) in individuals with coronary artery disease (CAD) …

Purpose We sought to delineate a multisystem disorder caused by recessive cysteine-rich
with epidermal growth factor–like domains 1 (CRELD1) gene variants. Methods The impact …

Variants in NDUFB11, which encodes a structural component of complex I of the
mitochondrial respiratory chain (MRC), were recently independently reported to cause …

Objective To identify the phenotypic, neuroimaging, and genotype-phenotype expression of
MYORG mutations. Methods Using next-generation sequencing, we screened 86 patients …

Abstract Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult
onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and …

The field of aortopathy, in common with other genomic disorders, is undergoing a revolution.
This is largely driven by the implementation of newer forms of genetic sequencing …

BRWD3 has been described as a cause of X‐linked intellectual disability, but relatively little
is known about the specific phenotype. We report the largest BRWD3 patient series to date …

Interstitial deletions of chromosome 3q22. 3–25.1 are very rare with only five previous
reports of deletions in this region [1, 2, 4, 7, 9]. We describe a case of a female infant with a …