| COVID-19: pandemic contingency planning for the allergy and immunology clinic MS Shaker, J Oppenheimer, M Grayson, D Stukus, N Hartog, EWY Hsieh, ... The Journal of Allergy and Clinical Immunology: In Practice 8 (5), 1477-1488. e5, 2020 | 382 | 2020 |
| Genetic mapping and exome sequencing identify variants associated with five novel diseases EG Puffenberger, RN Jinks, C Sougnez, K Cibulskis, RA Willert, ... PloS one 7 (1), e28936, 2012 | 354 | 2012 |
| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 284 | 2017 |
| Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease NJ Lohr, JP Molleston, KA Strauss, W Torres-Martinez, EA Sherman, ... The American Journal of Human Genetics 86 (3), 447-453, 2010 | 223 | 2010 |
| Classical maple syrup urine disease and brain development: principles of management and formula design KA Strauss, B Wardley, D Robinson, C Hendrickson, NL Rider, ... Molecular genetics and metabolism 99 (4), 333-345, 2010 | 213 | 2010 |
| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood J Ng, J Zhen, E Meyer, K Erreger, Y Li, N Kakar, J Ahmad, H Thiele, ... Brain 137 (4), 1107-1119, 2014 | 166 | 2014 |
| Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease NL Rider, MB Jameson, CB Creech Journal of the Pediatric Infectious Diseases Society 7 (suppl_1), S2-S5, 2018 | 101 | 2018 |
| Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx KA Strauss, J Brumbaugh, A Duffy, B Wardley, D Robinson, ... Molecular genetics and metabolism 104 (1-2), 93-106, 2011 | 92 | 2011 |
| Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations A Vargas-Hernández, EM Mace, O Zimmerman, CS Zerbe, AF Freeman, ... Journal of Allergy and Clinical Immunology 141 (6), 2142-2155. e5, 2018 | 89 | 2018 |
| Health-related quality of life in adult patients with common variable immunodeficiency disorders and impact of treatment NL Rider, C Kutac, J Hajjar, C Scalchunes, FO Seeborg, M Boyle, ... Journal of clinical immunology 37, 461-475, 2017 | 76 | 2017 |
| Immunologic and clinical features of 25 Amish patients with RMRP 70 A→ G cartilage hair hypoplasia NL Rider, DH Morton, E Puffenberger, CL Hendrickson, DL Robinson, ... Clinical Immunology 131 (1), 119-128, 2009 | 51 | 2009 |
| Gastrointestinal disorders associated with primary immunodeficiency diseases S Hartono, MR Ippoliti, M Mastroianni, R Torres, NL Rider Clinical reviews in allergy & immunology 57, 145-165, 2019 | 45 | 2019 |
| Erythrocyte pyruvate kinase deficiency in an old‐order Amish cohort: longitudinal risk and disease management NL Rider, KA Strauss, K Brown, A Finkenstedt, EG Puffenberger, ... American journal of hematology 86 (10), 827-834, 2011 | 39 | 2011 |
| Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia MA de la Fuente, M Recher, NL Rider, KA Strauss, DH Morton, M Adair, ... Journal of allergy and clinical immunology 128 (1), 139-146, 2011 | 38 | 2011 |
| A phased approach to resuming suspended allergy/immunology clinical services DA Searing, CM Dutmer, DM Fleischer, MS Shaker, J Oppenheimer, ... The Journal of Allergy and Clinical Immunology: In Practice 8 (7), 2125-2134, 2020 | 36 | 2020 |
| Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome NL Rider, B Boisson, S Jyonouchi, EP Hanson, SD Rosenzweig, ... Frontiers in pediatrics 3, 2, 2015 | 36 | 2015 |
| High incidence of autoimmune disease after hematopoietic stem cell transplantation for chronic granulomatous disease AD Yanir, IC Hanson, WT Shearer, LM Noroski, LR Forbes, FO Seeborg, ... Biology of Blood and Marrow Transplantation 24 (8), 1643-1650, 2018 | 29 | 2018 |
| Calculation of a primary immunodeficiency “risk vital sign” via population-wide analysis of claims data to aid in clinical decision support NL Rider, D Miao, M Dodds, V Modell, F Modell, J Quinn, H Schwarzwald, ... Frontiers in Pediatrics 7, 70, 2019 | 28 | 2019 |
| Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency KA Strauss, EG Puffenberger, N Bunin, NL Rider, MC Morton, ... Clinical Immunology 128 (1), 31-38, 2008 | 25 | 2008 |
| A framework for augmented intelligence in allergy and immunology practice and research—a work group report of the AAAAI Health Informatics, Technology, and Education Committee P Khoury, R Srinivasan, S Kakumanu, S Ochoa, A Keswani, R Sparks, ... The Journal of Allergy and Clinical Immunology: In Practice 10 (5), 1178-1188, 2022 | 22 | 2022 |
