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Sri Vishnu Vardhan Deevi
Sri Vishnu Vardhan Deevi
在 astrazeneca.com 的电子邮件经过验证
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引用次数
引用次数
年份
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4792020
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4572017
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag, I Tachmazidou, ...
Nature 597 (7877), 527-532, 2021
3342021
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ...
Intensive care medicine 45, 627-636, 2019
2262019
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ...
Journal of allergy and clinical immunology 142 (4), 1285-1296, 2018
2242018
Germline selection shapes human mitochondrial DNA diversity
W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ...
Science 364 (6442), eaau6520, 2019
2062019
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ...
Nature 583 (7814), 90-95, 2020
2012020
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ...
Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016
1962016
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
K Downes, K Megy, D Duarte, M Vries, J Gebhart, S Hofer, O Shamardina, ...
Blood, The Journal of the American Society of Hematology 134 (23), 2082-2091, 2019
1802019
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136 (21), 2022-2033, 2017
1382017
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ...
Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020
1162020
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
E Turro, D Greene, A Wijgaerts, C Thys, C Lentaigne, TK Bariana, ...
Science translational medicine 8 (328), 328ra30-328ra30, 2016
1152016
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch
Scientific reports 8 (1), 1300, 2018
722018
Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes
J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ...
The American Journal of Human Genetics 103 (1), 3-18, 2018
652018
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
632019
Spontaneous coronary artery dissection: insights on rare genetic variation from genome sequencing
KJ Carss, AA Baranowska, J Armisen, TR Webb, SE Hamby, ...
Circulation: Genomic and Precision Medicine 13 (6), e003030, 2020
622020
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
KL Thomson, E Ormondroyd, AR Harper, T Dent, K McGuire, J Baksi, ...
Genetics in Medicine 21 (7), 1576-1584, 2019
602019
Assessing the role of rare genetic variation in patients with heart failure
G Povysil, O Chazara, KJ Carss, SVV Deevi, Q Wang, J Armisen, DS Paul, ...
JAMA cardiology 6 (4), 379-386, 2021
552021
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
RS Dhindsa, J Mattsson, A Nag, Q Wang, LV Wain, R Allen, EM Wigmore, ...
Communications biology 4 (1), 392, 2021
532021
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting
S Revel-Vilk, E Shai, E Turro, N Jahshan, E Hi-Am, G Spectre, H Daum, ...
Blood, The Journal of the American Society of Hematology 132 (17), 1851-1854, 2018
532018
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