Følg
Elizabeth Blue
Elizabeth Blue
Associate Professor, Division of Medical Genetics, Department of Medicine, University of Washington
Verificeret mail på uw.edu
Titel
Citeret af
Citeret af
År
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
7382015
Genetic similarities within and between human populations
DJ Witherspoon, S Wooding, AR Rogers, EE Marchani, WS Watkins, ...
Genetics 176 (1), 351-359, 2007
3522007
Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia
JD Cogan, JA Kropski, M Zhao, DB Mitchell, L Rives, C Markin, ET Garnett, ...
American journal of respiratory and critical care medicine 191 (6), 646-655, 2015
2032015
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
M Toriyama, C Lee, SP Taylor, I Duran, DH Cohn, AL Bruel, JM Tabler, ...
Nature genetics 48 (6), 648-656, 2016
1412016
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ...
The American Journal of Human Genetics 96 (3), 462-473, 2015
1362015
Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate
LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter, N Nidey, JM Standley, ...
The American Journal of Human Genetics 102 (6), 1143-1157, 2018
1012018
Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics
EE Blue, ARVR Horimoto, S Mukherjee, EM Wijsman, TA Thornton
Alzheimer's & Dementia 15 (12), 1524-1532, 2019
882019
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder
G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ...
The American Journal of Human Genetics 99 (6), 1229-1244, 2016
862016
Human Population Genetic Structure and Diversity Inferred from Polymorphic L1(LINE-1) and Alu Insertions
DJ Witherspoon, EE Marchani, WS Watkins, CT Ostler, SP Wooding, ...
Human heredity 62 (1), 30-46, 2006
772006
Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3
JX Chong, LC Burrage, AE Beck, CT Marvin, MJ McMillin, KM Shively, ...
The American Journal of Human Genetics 96 (5), 841-849, 2015
682015
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
NH Chapman, AQ Nato, R Bernier, K Ankenman, H Sohi, J Munson, ...
Human genetics 134, 1055-1068, 2015
612015
Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan
EE Marchani, WS Watkins, K Bulayeva, HC Harpending, LB Jorde
BMC genetics 9, 1-13, 2008
472008
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
462022
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
H Zhou, T Arapoglou, X Li, Z Li, X Zheng, J Moore, A Asok, S Kumar, ...
Nucleic acids research 51 (D1), D1300-D1311, 2023
412023
Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease
BN Vardarajan, S Barral, J Jaworski, GW Beecham, E Blue, G Tosto, ...
Annals of clinical and translational neurology 5 (4), 406-417, 2018
412018
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
402020
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease
X Zhang, C Zhu, G Beecham, BN Vardarajan, Y Ma, D Lancour, JJ Farrell, ...
Alzheimer's & Dementia 15 (3), 441-452, 2019
382019
Using whole exome sequencing to identify candidate genes with rare variants in nonsyndromic cleft lip and palate
A Aylward, Y Cai, A Lee, E Blue, D Rabinowitz, J Haddad Jr, ...
Genetic epidemiology 40 (5), 432-441, 2016
352016
Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families
EE Marchani, TD Bird, EJ Steinbart, E Rosenthal, CE Yu, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
352010
Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease
M Butkiewicz, EE Blue, YY Leung, X Jian, E Marcora, AE Renton, ...
Bioinformatics 34 (16), 2724-2731, 2018
342018
Systemet kan ikke foretage handlingen nu. Prøv igen senere.
Artikler 1–20