Eden Haverfield

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1K citations · Full text

Bioinformatics, Long-read Sequencing, Whole-exome Sequencing +9

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

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 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

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 · 142 citations · Full text

Genetic evidence in support of a shared Eurasian-North African dairying origin

Sean Myles, Nourdine Bouzekri, Eden Haverfield et al. · Human Genetics · 2005 · 110 citations

Animal Agriculture, Animal Science, Genetics +9