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 | 2681 | 2020 |
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 | 2300 | 2020 |
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 | 519 | 2021 |
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 | 373 | 2021 |
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 | 163 | 2018 |
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 | 157 | 2022 |
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 | 151 | 2021 |
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 | 146 | 2020 |
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 | 61 | 2022 |
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 | 56 | 2017 |
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 | 44 | 2020 |
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 | 40 | 2016 |
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 | 37 | 2018 |
Inferring the effect of genomic variation in the new era of genomics S Chakravorty, M Hegde Human mutation 39 (6), 756-773, 2018 | 31 | 2018 |
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 | 24 | 2021 |
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 | 21 | 2014 |
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 | 16 | 2019 |
Genomic applications in pathology GJ Netto, I Schrijver Springer, 2015 | 12 | 2015 |
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 | 11 | 2020 |
Clinical utility of transcriptome sequencing: toward a better diagnosis for Mendelian disorders S Chakravorty, M Hegde Clinical Chemistry 64 (6), 882-884, 2018 | 11 | 2018 |