Associated Papers
Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.
Rawashdeh RR et al.
Jco Global Oncology, 2024
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.
Wei X et al.
Plos Genetics, 2014
[Genetics and genomics of pulmonary arterial hypertension].
Soubrier F et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
Genetics and genomics of pulmonary arterial hypertension.
Soubrier F et al.
Journal of the American College of Cardiology, 2013
The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.
Machado RD
Scientifica, 2012
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Nasim MT et al.
Human Mutation, 2011
Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations.
Yadav S et al.
Cancer Genomics & Proteomics, 0
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