Nancy J. Mendelsohn

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

G. Bradley Schaefer, Nancy J. Mendelsohn · Genetics in Medicine · 2013 · 529 citations

Life Sciences, Genetics, Psychiatry +16

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 277 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead et al. · Genetics in Medicine · 2012 · 211 citations · Full text

Life Sciences, Immunology, Pediatrics +12