Marleen Simon

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 318 citations · Full text

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Marie-José van den Bogaard, Saskia M. Maas et al. · The American Journal of Human Genetics · 2006 · 210 citations · Full text

H19 Gene Causes, Genetic Disorder, Genetics +8

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 195 citations · Full text

Bone Disease, Sclerostin, Bone Health +13

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar et al. · Nature Genetics · 2011 · 151 citations

Mad Homology 2, Mendelian Disorder, Genetic Disorder +7

Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks et al. · American Journal of Medical Genetics Part A · 2013 · 145 citations · Full text