Renata Posmyk

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti et al. · The American Journal of Human Genetics · 2013 · 132 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +8

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 106 citations · Full text

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, B. Redeker, Emilia Stellacci et al. · Nature Genetics · 2014 · 96 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +2

Contribution of <i>RIT1</i> mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Monika Goś, Somayyeh Fahiminiya, Jarosław Poznański et al. · American Journal of Medical Genetics Part A · 2014 · 45 citations

Short Stature, Genetics, Genetic Epidemiology +24