Seguir
Catherine Brownstein
Catherine Brownstein
Assistant Professor at Harvard Medical School, Project Manager at Boston Children's Hospital
Dirección de correo verificada de childrens.harvard.edu
Título
Citado por
Citado por
Año
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
7662010
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
4822015
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
2482008
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
2132013
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
1702014
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
1682013
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
1672009
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
1602012
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
1562017
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
1442017
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
1372011
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
1202014
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
992013
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
872017
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
822011
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
762019
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
672021
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
642015
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
622019
Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration–experience from a pediatric tertiary care facility
SF Manzi, VA Fusaro, L Chadwick, C Brownstein, C Clinton, KD Mandl, ...
Journal of the American Medical Informatics Association 24 (1), 74-80, 2017
552017
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20