Marieke F. van Dooren

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

Paula J. P. de Vree, Elzo de Wit, Monique van de Heijning et al. · Nature Biotechnology · 2014 · 303 citations

Life Sciences, Genetics, Molecular Genetics +13

SDHA Immunohistochemistry Detects Germline SDHA Gene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

Esther Korpershoek, Judith Favier, José Gaal et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 279 citations · Full text

Medicine, Genetics, Pathology +17

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Non‐VACTERL‐type anomalies are frequent in patients with esophageal atresia/tracheo‐esophageal fistula and full or partial VACTERL association

Elisabeth M. de Jong, Janine F. Felix, Jacqueline A. Deurloo et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2008 · 89 citations

Medicine, Clinical Sciences, Gastroenterology +11

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17