Jillian G. Buchan

Genomic data in the All of Us Research Program

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo et al. · Nature · 2024 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Melissa Kelly, Colleen Caleshu, Ana Morales et al. · Genetics in Medicine · 2018 · 371 citations · Full text

Life Sciences, Cardiology, Genetics +16

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon et al. · Genetics in Medicine · 2017 · 275 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Jillian G. Buchan, David M. Alvarado, Gabe Haller et al. · Human Molecular Genetics · 2014 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

David M. Alvarado, Hyuliya Aferol, Kevin McCall et al. · The American Journal of Human Genetics · 2010 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10