关注
Stephanie (Parker) DiTroia
Stephanie (Parker) DiTroia
Broad Institute / UCSF / HudsonAlpha
在 broadinstitute.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
169992012
A user's guide to the encyclopedia of DNA elements (ENCODE)
ENCODE Project Consortium
PLoS biology 9 (4), e1001046, 2011
8662011
Dynamic DNA methylation across diverse human cell lines and tissues
KE Varley, J Gertz, KM Bowling, SL Parker, TE Reddy, F Pauli-Behn, ...
Genome research 23 (3), 555-567, 2013
7982013
Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation
J Gertz, KE Varley, TE Reddy, KM Bowling, F Pauli, SL Parker, KS Kucera, ...
PLoS genetics 7 (8), e1002228, 2011
3522011
Maternal vitamin C regulates reprogramming of DNA methylation and germline development
SP DiTroia, M Percharde, MJ Guerquin, E Wall, E Collignon, KT Ebata, ...
Nature 573 (7773), 271-275, 2019
832019
seqr: A web‐based analysis and collaboration tool for rare disease genomics
LS Pais, H Snow, B Weisburd, S Zhang, SM Baxter, S DiTroia, E O'Heir, ...
Human mutation 43 (6), 698-707, 2022
592022
Nuclear pore complexes in the maintenance of genome integrity
L Bukata, SL Parker, MA D’Angelo
Current opinion in cell biology 25 (3), 378-386, 2013
562013
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
532022
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
412023
Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited
MP Douglas, SL Parker, JR Trosman, AM Slavotinek, KA Phillips
Genetics in Medicine 21 (1), 152-160, 2019
342019
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype
H Hasle, RM Kline, E Kjeldsen, NF Nik-Abdul-Rashid, D Bhojwani, ...
Blood, The Journal of the American Society of Hematology 139 (21), 3159-3165, 2022
242022
Expanding the phenotypic spectrum in RDH12-associated retinal disease
HA Scott, EM Place, K Ferenchak, E Zampaglione, NE Wagner, KR Chao, ...
Molecular Case Studies 6 (1), a004754, 2020
232020
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript
L Wahlster, JM Verboon, LS Ludwig, SC Black, W Luo, K Garg, RA Voit, ...
Journal of Experimental Medicine 218 (6), e20210444, 2021
222021
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
S Shickh, MG Salazar, KR Zakoor, C Lázaro, J Gu, J Goltz, D Kleinman, ...
Journal of Medical Genetics 58 (4), 275-283, 2021
212021
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
AW Hansen, P Arora, MM Khayat, LJ Smith, AM Lewis, LZ Rossetti, ...
Human Genetics and Genomics Advances 2 (1), 2021
182021
STAT3 and GR cooperate to drive gene expression and growth of basal-like triple-negative breast cancer
ME Conway, JM McDaniel, JM Graham, KP Guillen, PG Oliver, SL Parker, ...
Cancer Research 80 (20), 4355-4370, 2020
182020
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Y Zhang, G Tachtsidis, C Schob, M Koko, UBS Hedrich, H Lerche, ...
Human Molecular Genetics 30 (23), 2300-2314, 2021
172021
Exome sequencing and the identification of new genes and shared mechanisms in polymicrogyria
SK Akula, AY Chen, JE Neil, DD Shao, A Mo, NK Hylton, S DiTroia, ...
JAMA neurology 80 (9), 980-988, 2023
122023
GGPS1‐associated muscular dystrophy with and without hearing loss
R Kaiyrzhanov, L Perry, C Rocca, MS Zaki, H Hosny, ...
Annals of Clinical and Translational Neurology 9 (9), 1465-1474, 2022
102022
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)
E Zampaglione, M Maher, EM Place, NE Wagner, S DiTroia, KR Chao, ...
Genetics in Medicine 24 (2), 332-343, 2022
102022
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