Eden Haverfield

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Kyle Retterer, Julie Scuffins, Daniel Schmidt et al. · Genetics in Medicine · 2014 · 146 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder, Aimee Allworth, Harris T. Bland et al. · Genetics in Medicine · 2023 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16