Stacy Gabriel

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

Life Sciences, Genetics, Neuroscience +17

Quality control and quality assurance in genotypic data for genome‐wide association studies

Cathy C. Laurie, Kimberly F. Doheny, Daniel B. Mirel et al. · Genetic Epidemiology · 2010 · 498 citations · Full text

Life Sciences, Biostatistics, Genetics +15

Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene

Yukinori Okada, Dorothée Diogo, Jeffrey D. Greenberg et al. · PLoS ONE · 2014 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson et al. · American Journal of Medical Genetics Part A · 2013 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

Xiaowei Hu, Dandi Qiao, Wonji Kim et al. · The American Journal of Human Genetics · 2022 · 24 citations · Full text

Life Sciences, Bioinformatics, Genetics +17