Tag: Variants

Latest News

Newly identified gene variants in Black Americans could lead to precision prostate cancer therapies

Newsemia
Black men in the United States are known to suffer disproportionately from prostate cancer, but few studies have investigated whether genetic differences in prostate tumors...
Gastroenterology

Associations of nicotidamide-N-methyltransferase, FTO, and IRX3 genetic variants with body mass index and resting energy expenditure in Mexican subjects

Newsemia
Associations of nicotidamide-N-methyltransferase, FTO, and IRX3 genetic variants with body mass index and resting energy expenditure in Mexican subjects Source link...
Latest News

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

Newsemia
Lopes, LR; Barbosa, P; Torrado, M; Quinn, E; Merino, A; Ochoa, JP; Jager, J; … Elliott, PM; + view all Lopes, LR; Barbosa, P; Torrado,...
Latest News

Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson’s disease

Newsemia
Stoker, TB; Camacho, M; Winder-Rhodes, S; Liu, G; Scherzer, CR; Foltynie, T; Evans, J; … Williams-Gray, CH; + view all Stoker, TB; Camacho, M; Winder-Rhodes,...
Latest News

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Newsemia
Ilyas, M; Efthymiou, S; Salpietro, V; Noureen, N; Zafar, F; Rauf, S; Mir, A; Ilyas, M; Efthymiou, S; Salpietro, V; Noureen, N; Zafar, F; Rauf,...
Latest News

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Newsemia
Scala, M; Mojarrad, M; Riazuddin, S; Brigatti, KW; Ammous, Z; Cohen, JS; Hosny, H; … Maroofian, R; + view all Scala, M; Mojarrad, M; Riazuddin,...
Latest News

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Newsemia
Yang, L; Fujinami, K; Ueno, S; Kuniyoshi, K; Hayashi, T; Kondo, M; Mizota, A; … JEGC study group, ; + view all Yang, L; Fujinami,...
Cardiology

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Newsemia
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 Apr 04;: Authors: Muir...
Latest News

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants

Newsemia
Nardello, R; Fontana, A; Donato Mangano, G; Efthymiou, S; Salpietro, V; Houlden, H; Mangano, S; (2020) Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of...
Neurology

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion

Newsemia
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by prolonged febrile seizures at onset and subsequent damage to the cerebral cortex...
Cardiology

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

Newsemia
Related Articles NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet A. 2020 Mar 21;: Authors: Ritter A, Werner...
Latest News

Quantitative Approach to Fragmented QRS in Arrhythmogenic Cardiomyopathy: From Disease towards Asymptomatic Carriers of Pathogenic Variants

Newsemia
Roudijk, RW; Bosman, LP; van der Heijden, JF; de Bakker, JMT; Hauer, RNW; van Tintelen, JP; Asselbergs, FW; … Loh, P; + view all Roudijk,...
AI/ML

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.

Newsemia
Related Articles Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals. Elife. 2020 Jan 27;9: Authors: Wesolowska-Andersen A,...

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