Janneke Weiss

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink et al. · European Journal of Human Genetics · 2015 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic analysis of 53 lymph node-negative breast carcinomas by CGH and relation to clinical, pathological, morphometric, and DNA cytometric prognostic factors

Mario Hermsen, Jan P. A. Baak, Gerrit A. Meijer et al. · The Journal of Pathology · 1998 · 72 citations

Life Sciences, Genetics, Oncology +16

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Ratna Tripathy, Ines Leca, Tessa van Dijk et al. · Neuron · 2018 · 67 citations · Full text

Life Sciences, Neurology, Neuroscience +9

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

Tamara Paff, Irsan Kooi, Youssef Moutaouakil et al. · Human Mutation · 2018 · 45 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +13

Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study

Ellis C. Becking, Soetinah A.M. Wirjosoekarto, P Scheffer et al. · Prenatal Diagnosis · 2021 · 35 citations · Full text

Medicine, Genetics, Obstetrics +17