Patti Krautscheid

Multiple endocrine neoplasia type 2 <i>RET</i> protooncogene database: Repository of MEN2-associated <i>RET</i> sequence variation and reference for genotype/phenotype correlations

Rebecca L. Margraf, David K. Crockett, Patti Krautscheid et al. · Human Mutation · 2009 · 158 citations · Full text

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

Christine E. Miller, Patti Krautscheid, Erin E. Baldwin et al. · American Journal of Medical Genetics Part A · 2014 · 144 citations

Genetic Testing, Genetics, Genetic Epidemiology +20

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Rong Mao, Patti Krautscheid, Rondell P. Graham et al. · Genetics in Medicine · 2021 · 73 citations · Full text

Cancer Research, Technical Standard, Genetic Testing +12

De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder

Wei Shen, Patti Krautscheid, Audrey Rutz et al. · European Journal of Medical Genetics · 2018 · 43 citations

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +8

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Karen E. Wain, Danielle R. Azzariti, Jennifer Goldstein et al. · Genetics in Medicine · 2019 · 29 citations · Full text

Reproductive Genetic Counseling, Counseling, Genetic Testing +8