Jennifer Malinowski

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 585 citations · Full text

Developmental Anomaly, Sequencing, Genetic Disorder +7

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

J.S. Dungan, Susan Klugman, Sandra Darilek et al. · Genetics in Medicine · 2022 · 181 citations

Prenatal Genetic Testing, Medicine, Genetics +13

Trends in guideline implementation: an updated scoping review

Sanne Peters, Krithika Sukumar, Akilesh Ramasamy et al. · Implementation Science · 2022 · 143 citations · Full text

Sysrev: A FAIR Platform for Data Curation and Systematic Evidence Review

Thomas Bozada, James Borden, Jeffrey Workman et al. · Frontiers in Artificial Intelligence · 2021 · 92 citations · Full text

Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study

Cara L. Carty, Kylee L. Spencer, Veronica Wendy Setiawan et al. · Human Reproduction · 2013 · 78 citations · Full text