| Sharing health data for better outcomes on PatientsLikeMe P Wicks, M Massagli, J Frost, C Brownstein, S Okun, T Vaughan, ... Journal of medical Internet research 12 (2), e1549, 2010 | 768 | 2010 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 488 | 2015 |
| A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism CA Brownstein, F Adler, C Nelson-Williams, J Iijima, P Li, A Imura, ... Proceedings of the National Academy of Sciences 105 (9), 3455-3460, 2008 | 250 | 2008 |
| Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ... The American Journal of Human Genetics 93 (1), 6-18, 2013 | 213 | 2013 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 173 | 2014 |
| Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ... The American Journal of Human Genetics 93 (6), 1108-1117, 2013 | 168 | 2013 |
| The power of social networking in medicine CA Brownstein, JS Brownstein, DS Williams III, P Wicks, JA Heywood Nature biotechnology 27 (10), 888-890, 2009 | 168 | 2009 |
| Perceived benefits of sharing health data between people with epilepsy on an online platform P Wicks, DL Keininger, MP Massagli, C de la Loge, C Brownstein, ... Epilepsy & Behavior 23 (1), 16-23, 2012 | 161 | 2012 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 144 | 2017 |
| Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis MR Turner, P Wicks, CA Brownstein, MP Massagli, M Toronjo, K Talbot, ... Journal of Neurology, Neurosurgery & Psychiatry 82 (8), 853-854, 2011 | 138 | 2011 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 120 | 2014 |
| Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities–support for the role of K (ATP) channels in this condition CA Brownstein, MC Towne, LJ Luquette, DJ Harris, NS Marinakis, ... European journal of medical genetics 56 (12), 678-682, 2013 | 100 | 2013 |
| The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States HM Reddy, KA Cho, M Lek, E Estrella, E Valkanas, MD Jones, ... Journal of human genetics 62 (2), 243-252, 2017 | 88 | 2017 |
| Potential for electronic health records and online social networking to redefine medical research JF Pearson, CA Brownstein, JS Brownstein Clinical chemistry 57 (2), 196-204, 2011 | 82 | 2011 |
| ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis CA Deisseroth, J Birgmeier, EE Bodle, JN Kohler, DR Matalon, ... Genetics in Medicine 21 (7), 1585-1593, 2019 | 76 | 2019 |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM De La Vega, S Chowdhury, B Moore, E Frise, J McCarthy, ... Genome Medicine 13, 1-19, 2021 | 71 | 2021 |
| Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance B Russell, JJ Johnston, LG Biesecker, N Kramer, A Pickart, W Rhead, ... American Journal of Medical Genetics Part A 167 (9), 2122-2131, 2015 | 66 | 2015 |
| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes K Schmitz-Abe, Q Li, SM Rosen, N Nori, JA Madden, CA Genetti, ... European Journal of Human Genetics 27 (9), 1398-1405, 2019 | 63 | 2019 |
| Current knowledge of SLC6A1-related neurodevelopmental disorders K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ... Brain communications 2 (2), fcaa170, 2020 | 55 | 2020 |
