Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 531 | 2014 |
Whole-genome sequencing of a healthy aging cohort GA Erikson, DL Bodian, M Rueda, B Molparia, ER Scott, ... Cell 165 (4), 1002-1011, 2016 | 227 | 2016 |
The Asthma Mobile Health Study, a large-scale clinical observational study using ResearchKit YFY Chan, P Wang, L Rogers, N Tignor, M Zweig, SG Hershman, ... Nature biotechnology 35 (4), 354-362, 2017 | 211 | 2017 |
Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia YZ Chen, JR Friedman, DH Chen, GCK Chan, CS Bloss, FM Hisama, ... Annals of neurology 75 (4), 542-549, 2014 | 143 | 2014 |
Sequencing the CYP2D6 Gene: From Variant Allele Discovery to Clinical Pharmacogenetic Testing Y Yang, MR Botton, ER Scott, SA Scott Pharmacogenomics 18 (7), 673-685, 2017 | 129 | 2017 |
The asthma mobile health study, smartphone data collected using ResearchKit YFY Chan, BM Bot, M Zweig, N Tignor, W Ma, C Suver, R Cedeno, ... Scientific Data 5 (1), 1-11, 2018 | 60 | 2018 |
APPLaUD: access for patients and participants to individual level uninterpreted genomic data A Thorogood, J Bobe, B Prainsack, A Middleton, E Scott, S Nelson, ... Human genomics 12, 1-6, 2018 | 53 | 2018 |
Microbial cell-free DNA identifies etiology of bloodstream infections, persists longer than conventional blood cultures, and its duration of detection is associated with … EM Eichenberger, CR de Vries, F Ruffin, B Sharma-Kuinkel, L Park, ... Clinical Infectious Diseases 74 (11), 2020-2027, 2022 | 52 | 2022 |
Evidence for Alteration of Gene Regulatory Networks through MicroRNAs of the HIV-infected brain: novel analysis of retrospective cases ET Tatro, ER Scott, TB Nguyen, S Salaria, S Banerjee, DJ Moore, ... PloS one 5 (4), e10337, 2010 | 47 | 2010 |
Microbial cell-free DNA identifies the causative pathogen in infective endocarditis and remains detectable longer than conventional blood culture in patients with prior … EM Eichenberger, N Degner, ER Scott, F Ruffin, J Franzone, ... Clinical Infectious Diseases 76 (3), e1492-e1500, 2023 | 35 | 2023 |
Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay HB Larman, ER Scott, M Wogan, G Oliveira, A Torkamani, PG Schultz Nucleic acids research 42 (14), 9146-9157, 2014 | 34 | 2014 |
Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data A Middleton, R Milne, H Howard, E Niemiec, L Robarts, C Critchley, ... European Journal of Human Genetics 28 (4), 424-434, 2020 | 32 | 2020 |
‘Your DNA, Your Say’: global survey gathering attitudes toward genomics: design, delivery and methods A Middleton, E Niemiec, B Prainsack, J Bobe, L Farley, C Steed, J Smith, ... Personalized medicine 15 (04), 311-318, 2018 | 31 | 2018 |
A genome sequencing program for novel undiagnosed diseases CS Bloss, AA Zeeland, SE Topol, BF Darst, DL Boeldt, GA Erikson, ... Genetics in Medicine 17 (12), 995-1001, 2015 | 31 | 2015 |
Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai SA Scott, A Owusu Obeng, MR Botton, Y Yang, ER Scott, SB Ellis, ... Pharmacogenomics 18 (15), 1381-1386, 2017 | 20 | 2017 |
Development and analytical validation of a 29 gene clinical pharmacogenetic genotyping panel: multi‐ethnic allele and copy number variant detection SA Scott, ER Scott, Y Seki, AJ Chen, R Wallsten, A Owusu Obeng, ... Clinical and translational science 14 (1), 204-213, 2021 | 16 | 2021 |
Multiplexed analysis of fixed tissue RNA using Ligation in situ Hybridization JJ Credle, CY Itoh, T Yuan, R Sharma, ER Scott, RE Workman, Y Fan, ... Nucleic acids research 45 (14), e128-e128, 2017 | 13 | 2017 |
Pharmacogenomic education among genetic counseling training programs in North America E Loudon, SA Scott, R Rigobello, ER Scott, R Zinberg, H Naik Journal of Genetic Counseling 30 (5), 1500-1508, 2021 | 12 | 2021 |
Methods for clustering time series data acquired from mobile health apps N Tignor, P Wang, N Genes, L Rogers, SG Hershman, ER Scott, M Zweig, ... PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017, 300-311, 2017 | 11 | 2017 |
An examination of the relationship between lipid levels and associated genetic markers across racial/ethnic populations in the multi-ethnic study of atherosclerosis L Johnson, J Zhu, ER Scott, NE Wineinger PLoS One 10 (5), e0126361, 2015 | 11 | 2015 |