Diane Masser‐Frye

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Pauline A. Filipek, Jenifer Juranek, Moyra Smith et al. · Annals of Neurology · 2003 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors

Blythe G. Crissman, Cori Feist, Susan L. Sell et al. · Journal of Genetic Counseling · 2011 · 127 citations · Full text

Life Sciences, Counseling, Genetics +16

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 121 citations

Life Sciences, Genetics, Molecular Genetics +17