Ruth Sheffer

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Christopher F. Hoth, Aubrey Milunsky, Nina R. Lipsky et al. · PubMed · 1993 · 258 citations

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe, Alexander Lossos, Hamid Azzedine et al. · European Journal of Human Genetics · 2012 · 153 citations · Full text

Biology, Mendelian Disorder, Kif1a Missense Mutations +8

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

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous <i>DNM1L</i> mutation causing impaired mitochondrial fission and function

Ruth Sheffer, Liza Douiev, Simon Edvardson et al. · American Journal of Medical Genetics Part A · 2016 · 96 citations

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Juanliang Cai, Barbara K. Goodman, Ankita Patel et al. · Human Genetics · 2003 · 74 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10