ChristianPatrickSchaafMD

Clinical Genetics, Pediatric Medical Genetics

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

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PubMed

2 citations
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M Pfister, Christian P Schaaf
Hereditary Cancer in Clinical Practice. 2023-07-03
11 citations
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske
Genetics in Medicine. 2022-09-01
2 citations
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz
Genetics in Medicine. 2022-09-01

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