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The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
Purpose:Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable… Expand
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
- D. Milewicz, K. Michael, N. Fisher, J. Coselli, T. Markello, A. Biddinger
- 1 December 1996
BACKGROUND Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications. Aneurysms or dissections of the… Expand
Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.
- M. Kaiser-Kupfer, C. Chan, +5 authors W. Gahl
- American journal of ophthalmology
- 1 November 1994
We examined three affected members of a Chinese-American family with Bietti's crystalline retinopathy. The clinical characteristics of a 24-year-old proband are contrasted to the clinical findings of… Expand
Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
NMDA receptors (NMDAR), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation… Expand
NT5E mutations and arterial calcifications.
BACKGROUND Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear. METHODS We performed clinical, radiographic, and genetic… Expand
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
- T. Pierson, H. Yuan, +15 authors W. Gahl
- Annals of clinical and translational neurology
- 1 March 2014
Early‐onset epileptic encephalopathies have been associated with de novo mutations of numerous ion channel genes. We employed techniques of modern translational medicine to identify a disease‐causing… Expand
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
- T. Pierson, Dimitre R. Simeonov, +11 authors W. Gahl
- Medicine, Biology
- European Journal of Human Genetics
- 1 April 2012
Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron… Expand
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
- Hsiao-Tuan Chao, Mariska Davids, +18 authors M. Malicdan
- Biology, Medicine
- American journal of human genetics
- 5 January 2017
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown… Expand
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
- Christina Lam, G. Golas, +21 authors L. Wolfe
- Biology, Medicine
- Molecular genetics and metabolism
- 1 June 2015
PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital… Expand
Improved renal function in children with cystinosis treated with cysteamine.
BACKGROUND The lysosomal storage disease cystinosis results in renal failure at approximately 10 years of age. Although oral cysteamine therapy is recognized to preserve kidney function, the extent… Expand