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Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia
TLDR
Findings link abnormalities in ubiquilin 2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention. Expand
The Human Phenotype Ontology in 2017
TLDR
The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology. Expand
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
TLDR
Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development. Expand
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
TLDR
The impact of discovering rare-disease-causing genes, from clinical diagnostics to insights gained into biological mechanisms and common diseases, is highlighted and the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring are explored. Expand
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
TLDR
Though the function of the ANO5 protein is still unknown, its putative calcium-activated chloride channel function may lead to important insights into the role of deficient skeletal muscle membrane repair in muscular dystrophies. Expand
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
TLDR
To the authors' knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect. Expand
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
TLDR
It is established that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina. Expand
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
TLDR
This study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressiveAtaxia; highlighting important clinical heterogeneity associated with the ITPR2 gene and a significant role of the IT PR1-related pathway in the development and maintenance of the normal functions of the cerebellum. Expand
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy
TLDR
The clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases are widens, with 12 novel mutations have been identified in thirteen families. Expand
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
TLDR
The presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23 is reported, and it is established that bIALlelic bRCA 1 mutations cause a distinct FA-S, which has implications for risk counselling in families where both parents harbor BRCa1 mutations. Expand
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