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Samya Chakravorty, PhD
Samya Chakravorty, PhD
Emory University School of Medicine
在 emory.edu 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
26812020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
23002020
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
5192021
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3732021
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
BRR Nallamilli, S Chakravorty, A Kesari, A Tanner, A Ankala, T Schneider, ...
Annals of clinical and translational neurology 5 (12), 1574-1587, 2018
1632018
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ...
Proceedings of the National Academy of Sciences 119 (21), 2022
1572022
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
V Sancho-Shimizu, P Brodin, A Cobat, CM Biggs, J Toubiana, CL Lucas, ...
Journal of Experimental Medicine 218 (6), e20210446, 2021
1512021
Life-threatening COVID-19: defective interferons unleash excessive inflammation
Q Zhang, P Bastard, A Bolze, E Jouanguy, SY Zhang, A Cobat, ...
Med 1 (1), 14-20, 2020
1462020
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
E Andreakos, L Abel, DC Vinh, E Kaja, BA Drolet, Q Zhang, C O’farrelly, ...
Nature immunology 23 (2), 159-164, 2022
612022
Gene and variant annotation for Mendelian disorders in the era of advanced sequencing technologies
S Chakravorty, M Hegde
Annual review of genomics and human genetics 18 (1), 229-256, 2017
562017
Clinical and genomic evaluation of 207 genetic myopathies in the Indian subcontinent
S Chakravorty, BRR Nallamilli, SV Khadilkar, MB Singla, A Bhutada, ...
Frontiers in Neurology 11, 559327, 2020
442020
Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives
H Yu, S Chakravorty, W Song, MA Ferenczi
European Biophysics Journal 45, 779-805, 2016
402016
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms
AT Berg, S Chakravorty, S Koh, ZM Grinspan, RA Shellhaas, RP Saneto, ...
PloS one 13 (3), e0193599, 2018
372018
Inferring the effect of genomic variation in the new era of genomics
S Chakravorty, M Hegde
Human mutation 39 (6), 756-773, 2018
312018
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
JE Ross, BM Zhang, K Lee, S Mohan, BR Branchford, P Bray, SN Dugan, ...
Blood advances 5 (2), 414-431, 2021
242021
Mutations of the Drosophila myosin regulatory light chain affect courtship song and reduce reproductive success
S Chakravorty, H Vu, V Foelber, JO Vigoreaux
PloS one 9 (2), e90077, 2014
212014
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
S Chakravorty, K Berger, D Arafat, BRR Nallamilli, HP Subramanian, ...
Muscle & nerve 60 (1), 98-103, 2019
162019
Genomic applications in pathology
GJ Netto, I Schrijver
Springer, 2015
122015
Autosomal dominant segregation of CAPN3 c. 598_612del15 associated with a mild form of calpainopathy.
M Cerino, M Bartoli, F Riccardi, B Le Goanvic, V Blanck, A Salvi, N Lévy, ...
Annals of Clinical & Translational Neurology 7 (12), 2020
112020
Clinical utility of transcriptome sequencing: toward a better diagnosis for Mendelian disorders
S Chakravorty, M Hegde
Clinical Chemistry 64 (6), 882-884, 2018
112018
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