Jillian G. Buchan

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 · 359 citations · Full text

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 · 263 citations · Full text

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 · 126 citations · Full text

Genetics, Genetic Epidemiology, Pathology +21

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

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 · 86 citations · Full text

Microduplications Containing Tbx4, Mendelian Disorder, Genetic Disorder +8