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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2020
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfallsKevin M Bowling, Michelle L Thompson, David E Gray, et al.
Environmental Pollution (Barking, Essex : 1987)|December 1, 2020
Concentration and origin of lead (Pb) in liver and bone of Eurasian buzzards (Buteo buteo) in the United KingdomMark A Taggart, Richard F Shore, Deborah J Pain, et al.
HGG Advances|May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
AJOB Empirical Bioethics|April 12, 2021
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible LifeJanet Elizabeth Childerhose, Carla Rich, Kelly M East, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
HGG Advances|June 16, 2022
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experienceKathleen D Muenzen, Laura M Amendola, Tia L Kauffman, et al.
Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
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