What can go wrong in the non-coding genome and how to interpret whole genome sequencing data

Heiko Krude(Humboldt-Universität zu Berlin), Markus Schuelke(Humboldt-Universität zu Berlin), Nancy Christine Øien(Humboldt-Universität zu Berlin), Stefan Mundlos(Humboldt-Universität zu Berlin), Robert Opitz(Humboldt-Universität zu Berlin)
Medizinische Genetik
June 1, 2021
10.1515/medgen-2021-2071
Cited by 10

Related Papers

The single-cell transcriptional landscape of mammalian organogenesis
|Nature|2019|4.7k
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
|Nature Genetics|1998|1.7k
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
|Cell|1997|1.5k
Formation of new chromatin domains determines pathogenicity of genomic duplications
|Nature|2016|719
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717