John Pappas

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

UPD detection using homozygosity profiling with a SNP genotyping microarray

Peter Papenhausen, Stuart Schwartz, Hiba Risheg et al. · American Journal of Medical Genetics Part A · 2011 · 200 citations

Single Chromosome, Genetic Testing, Single Nucleotide Polymorphism +20

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

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

A molecular and clinical study of Larsen syndrome caused by mutations in <i>FLNB</i>

Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati et al. · Journal of Medical Genetics · 2006 · 125 citations · Full text