Sara L. Bristow

Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy

María Enciso, J. Sarasa, L. Xanthopoulou et al. · Human Genetics · 2016 · 92 citations

Developmental Biology, Genetic Disorder, Genetics +10

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 87 citations · Full text

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina Hambuch, Justin M. Zook et al. · Genetics in Medicine · 2021 · 84 citations · Full text

Disease Susceptibility, Allelic Variant, Medicine +12

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

R. Shraga, Sarah Yarnall, Sonya Elango et al. · BMC Genetics · 2017 · 59 citations · Full text

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Edward D. Esplin, Sarah M. Nielsen, Sara L. Bristow et al. · JCO Precision Oncology · 2022 · 55 citations · Full text

Solid Tumor Cancer, Genetic Testing, Somatic Variant +10