| First case of 2019 novel coronavirus in the United States ML Holshue, C DeBolt, S Lindquist, KH Lofy, J Wiesman, H Bruce, ... New England journal of medicine 382 (10), 929-936, 2020 | 7698 | 2020 |
| Compassionate use of remdesivir for patients with severe Covid-19 J Grein, N Ohmagari, D Shin, G Diaz, E Asperges, A Castagna, T Feldt, ... New England Journal of Medicine 382 (24), 2327-2336, 2020 | 3243 | 2020 |
| Remdesivir for 5 or 10 days in patients with severe Covid-19 JD Goldman, DCB Lye, DS Hui, KM Marks, R Bruno, R Montejano, ... New England Journal of Medicine 383 (19), 1827-1837, 2020 | 1618 | 2020 |
| B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen I Puga, M Cols, CM Barra, B He, L Cassis, M Gentile, L Comerma, ... Nature immunology 13 (2), 170-180, 2012 | 831 | 2012 |
| Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease PA Hernandez, RJ Gorlin, JN Lukens, S Taniuchi, J Bohinjec, F Francois, ... Nature genetics 34 (1), 70-74, 2003 | 790 | 2003 |
| Myocarditis and pericarditis after vaccination for COVID-19 GA Diaz, GT Parsons, SK Gering, AR Meier, IV Hutchinson, A Robicsek Jama 326 (12), 1210-1212, 2021 | 407 | 2021 |
| Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases R Chen, L Shi, J Hakenberg, B Naughton, P Sklar, J Zhang, H Zhou, ... Nature biotechnology 34 (5), 531-538, 2016 | 352 | 2016 |
| Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus M Satoda, F Zhao, GA Diaz, J Burn, J Goodship, HR Davidson, ... Nature genetics 25 (1), 42-46, 2000 | 343 | 2000 |
| Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. R Parvari, E Hershkovitz, N Grossman, R Gorodischer, B Loeys, A Zecic, ... Nature genetics 32 (3), 2002 | 246 | 2002 |
| Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome GA Diaz, M Banikazemi, K Oishi, RJ Desnick, BD Gelb Nature genetics 22 (3), 309-312, 1999 | 239 | 1999 |
| Cross-sectional multicenter study of patients with urea cycle disorders in the United States M Tuchman, B Lee, U Lichter-Konecki, ML Summar, M Yudkoff, ... Molecular genetics and metabolism 94 (4), 397-402, 2008 | 233 | 2008 |
| Washington state 2019-nCoV case investigation team ML Holshue, C DeBolt, S Lindquist, KH Lofy, J Wiesman, H Bruce, ... First case of, 929-936, 2019 | 227 | 2019 |
| WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies RJ Gorlin, B Gelb, GA Diaz, KG Lofsness, MR Pittelkow, JR Fenyk Jr American journal of medical genetics 91 (5), 368-376, 2000 | 220 | 2000 |
| Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes L Zhang, L Radigan, U Salzer, TW Behrens, B Grimbacher, G Diaz, ... Journal of allergy and clinical immunology 120 (5), 1178-1185, 2007 | 196 | 2007 |
| Rapid mutagenesis and purification of phage RNA polymerases B He, M Rong, D Lyakhov, H Gartenstein, G Diaz, R Castagna, ... Protein expression and purification 9 (1), 142-151, 1997 | 173 | 1997 |
| Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits PL Auer, A Teumer, U Schick, A O'Shaughnessy, KS Lo, N Chami, ... Nature genetics 46 (6), 629-634, 2014 | 149 | 2014 |
| Motivations, concerns and preferences of personal genome sequencing research participants: baseline findings from the HealthSeq project SC Sanderson, MD Linderman, SA Suckiel, GA Diaz, RE Zinberg, ... European Journal of Human Genetics 24 (1), 14-20, 2016 | 133 | 2016 |
| Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte JD Weisfeld-Adams, MA Morrissey, BM Kirmse, BR Salveson, ... Molecular genetics and metabolism 99 (2), 116-123, 2010 | 130 | 2010 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 121 | 2013 |
| Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control B Lee, W Rhead, GA Diaz, BF Scharschmidt, A Mian, O Shchelochkov, ... Molecular genetics and metabolism 100 (3), 221-228, 2010 | 121 | 2010 |
