| Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy B Lo, K Zhang, W Lu, L Zheng, Q Zhang, C Kanellopoulou, Y Zhang, Z Liu, ... Science 349 (6246), 436-440, 2015 | 672 | 2015 |
| Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience CA Valencia, A Husami, J Holle, JA Johnson, Y Qian, A Mathur, C Wei, ... Frontiers in pediatrics 3, 67, 2015 | 210 | 2015 |
| Whole‐exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis KM Kaufman, B Linghu, JD Szustakowski, A Husami, F Yang, K Zhang, ... Arthritis & rheumatology 66 (12), 3486-3495, 2014 | 193 | 2014 |
| Whole-exome sequencing reveals mutations in genes linked to hemophagocytic lymphohistiocytosis and macrophage activation syndrome in fatal cases of H1N1 influenza GS Schulert, M Zhang, N Fall, A Husami, D Kissell, A Hanosh, K Zhang, ... The Journal of infectious diseases 213 (7), 1180-1188, 2016 | 162 | 2016 |
| Systemic juvenile idiopathic arthritis–associated lung disease: characterization and risk factors GS Schulert, S Yasin, B Carey, C Chalk, T Do, AH Schapiro, A Husami, ... Arthritis & rheumatology 71 (11), 1943-1954, 2019 | 157 | 2019 |
| Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis K Zhang, S Chandrakasan, H Chapman, CA Valencia, A Husami, ... Blood, The Journal of the American Society of Hematology 124 (8), 1331-1334, 2014 | 143 | 2014 |
| Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency D Boutboul, HS Kuehn, Z Van de Wyngaert, JE Niemela, I Callebaut, ... The Journal of clinical investigation 128 (7), 3071-3087, 2018 | 138 | 2018 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 131 | 2021 |
| The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors ZH Patel, LC Kottyan, S Lazaro, MS Williams, DH Ledbetter, G Tromp, ... Frontiers in genetics 5, 16, 2014 | 68 | 2014 |
| Clinical delineation of the PACS1‐related syndrome—Report on 19 patients JHM Schuurs‐Hoeijmakers, ML Landsverk, N Foulds, MK Kukolich, ... American Journal of Medical Genetics Part A 170 (3), 670-675, 2016 | 58 | 2016 |
| High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays P Kothiyal, S Cox, J Ebert, A Husami, MA Kenna, JH Greinwald, ... BMC biotechnology 10, 1-11, 2010 | 58 | 2010 |
| Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss TA Sivakumaran, A Husami, D Kissell, W Zhang, M Keddache, AP Black, ... Otolaryngology–Head and Neck Surgery 148 (6), 1007-1016, 2013 | 50 | 2013 |
| Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations M Gutiérrez, P Scaglia, A Keselman, L Martucci, L Karabatas, S Domené, ... Molecular and cellular endocrinology 473, 166-177, 2018 | 43 | 2018 |
| A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa AW Lucky, N Dagaonkar, K Lammers, A Husami, D Kissell, K Zhang Pediatric dermatology 35 (2), 188-197, 2018 | 39 | 2018 |
| Brief Report: Novel UNC13D Intronic Variant Disrupting an NF‐κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile … GS Schulert, M Zhang, A Husami, N Fall, H Brunner, K Zhang, RQ Cron, ... Arthritis & Rheumatology 70 (6), 963-970, 2018 | 38 | 2018 |
| The 253‐kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3 Y Qian, JA Johnson, JA Connor, CA Valencia, N Barasa, J Schubert, ... Pediatric Blood & Cancer 61 (6), 1034-1040, 2014 | 36 | 2014 |
| Identification of a phosphoinositide 3-kinase (PI-3K) p110δ (PIK3CD) deficient individual KJ Zhang, A Husami, R Marsh, MB Jordan J Clin Immunol 33 (3), 673-674, 2013 | 35 | 2013 |
| Screening for Wiskott-Aldrich syndrome by flow cytometry SCC Chiang, SM Vergamini, A Husami, L Neumeier, K Quinn, T Ellerhorst, ... Journal of allergy and clinical immunology 142 (1), 333-335. e8, 2018 | 26 | 2018 |
| Concordance between research sequencing and clinical pharmacogenetic genotyping in the eMERGE-PGx Study LJ Rasmussen-Torvik, B Almoguera, KF Doheny, RR Freimuth, ... The Journal of Molecular Diagnostics 19 (4), 561-566, 2017 | 22 | 2017 |
| Sanger sequencing principles, history, and landmarks CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 3-11, 2013 | 22 | 2013 |
C. Alexander Valencia, PhDChief Clinical Officer, Aperiomics, Inc.Verified email at aperiomics.com
