Vickie Zurcher

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 · 203 citations · Full text

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation

Karen M. Gustashaw, Vickie Zurcher, Lois H. Dickerman et al. · American Journal of Medical Genetics · 1994 · 85 citations

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Diana Wolff, Karen M. Gustashaw, Vickie Zurcher et al. · Human Genetics · 1997 · 66 citations

Genetic Disorder, Fmr1 Result, Genetics +8

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà et al. · Brain · 2019 · 61 citations · Full text

Corticobasal Degeneration, Genetics, Disease Gene Identification +18