ChristianPatrickSchaafMD

Clinical Genetics, Pediatric Medical Genetics

Professor and Chairman, Institute of Human Genetics, Heidelberg University Hospital

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PubMed

307 citations
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar L. Magoulas, Andrew R. Ghazi
JAMA Pediatrics. 2017-12-04
103 citations
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar
American Journal of Human Genetics. 2017-06-01
94 citations
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato
Genome Research. 2013-09-01

Journal Articles

Magel2 Modulates Bone Remodeling and Mass in Prader‐Willi Syndrome by Affecting Oleoyl Serine Levels and Activity
Christian Schaaf, MD, Journal of Bone and Mineral Research
Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies
Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
An Estimation of the Prevalence of Genomic Disorders Using Chromosomal Microarray Data
Christian P Schaaf, Philip J Lupo, Nature

Solving a Genetic Mystery: Bridging Diagnostic Discovery Through Social MediaSeptember 10th, 2015