Rare-variant collapsing analyses for complex traits: guidelines and applications G Povysil, S Petrovski, J Hostyk, V Aggarwal, AS Allen, DB Goldstein Nature Reviews Genetics 20 (12), 747-759, 2019 | 188 | 2019 |
A framework for the investigation of rare genetic disorders in neuropsychiatry SJ Sanders, M Sahin, J Hostyk, A Thurm, S Jacquemont, P Avillach, ... Nature medicine 25 (10), 1477-1487, 2019 | 121 | 2019 |
Causal genetic variants in stillbirth KE Stanley, J Giordano, V Thorsten, C Buchovecky, A Thomas, ... New England Journal of Medicine 383 (12), 1107-1116, 2020 | 82 | 2020 |
Transcriptional Inhibition of Host Viral Entry Proteins as a Therapeutic Strategy for SARS-CoV-2 X Wang, R Dhindsa, G Povysil, A Zoghbi, J Motelow, J Hostyk, ... Preprints, 2020 | 38 | 2020 |
ATAV: a comprehensive platform for population-scale genomic analyses Z Ren, G Povysil, JA Hostyk, H Cui, N Bhardwaj, DB Goldstein BMC bioinformatics 22 (1), 1-15, 2021 | 32 | 2021 |
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease K Eade, ML Gantner, JA Hostyk, T Nagasaki, S Giles, R Fallon, ... Nature Metabolism 3 (3), 366-377, 2021 | 32 | 2021 |
TMPRSS2 Transcriptional Inhibition as a Therapeutic Strategy for COVID-19 X Wang, R Dhindsa, G Povysil, A Zoghbi, J Motelow, J Hostyk, N Nickols, ... | 17 | 2020 |
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis A Cohen, J Hostyk, EH Baugh, CM Buchovecky, VS Aggarwal, RR Recker, ... Bone 154, 116253, 2022 | 16 | 2022 |
Genomic analysis of “microphenotypes” in epilepsy K Stanley, J Hostyk, L Tran, M Amengual‐Gual, P Dugan, J Clark, H Choi, ... American Journal of Medical Genetics Part A 188 (1), 138-146, 2022 | 4 | 2022 |
Risk Variants in the Exomes of Children With Critical Illness JE Motelow, NC Lippa, J Hostyk, E Feldman, M Nelligan, Z Ren, A Alkelai, ... JAMA Network Open 5 (10), e2239122-e2239122, 2022 | 1 | 2022 |
Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing JE Motelow, NC Lippa, J Hostyk, E Feldman, M Nelligan, Z Ren, A Alkelai, ... medRxiv, 2022 | | 2022 |
The Epilepsy Genetics Initiative: a final summary ST Kushary, L Bier, N Lippa, A Revah-Politi, H May, N Vena, T Sands, ... Molecular Genetics and Metabolism 132, S243, 2021 | | 2021 |
Whole exome sequencing across clinical specialties within a medical center N Lippa, L Bier, A Revah-Politi, S Kushary, H May, A Alkelai, E Baugh, ... MOLECULAR GENETICS AND METABOLISM 132, S226-S227, 2021 | | 2021 |
Whole Exome Sequencing (WES) Reveals Likely Pathogenic Variants in a Small Subset of Premenopausal Women with Idiopathic Osteoporosis A Cohen, J Hostyk, EH Baugh, CM Buchovecky, VS Aggarwal, RR Recker, ... JOURNAL OF BONE AND MINERAL RESEARCH 35, 287-287, 2020 | | 2020 |