Christian Patrick Schaaf

Professor and Chairman

UniversitätsKlinikum Heidelberg

Germany

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About

Christian Patrick Schaaf is a Professor and Chairman at UniversitätsKlinikum Heidelberg in Germany. His research areas primarily focus on genetic disorders, including Prader-Willi Syndrome, Dup15q Syndrome, and KDM1A-related neurodevelopmental disorders. He has published numerous articles exploring the complexities of genetics and phenotypic variability, as well as innovative approaches in genetic counseling and care for individuals with disabilities.

Articles (20)

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2021

Collaborators (9)

Theresa V Strong

The University of Alabama at Birmingham School of Medicine

UNITED STATES

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Anna Malovannaya

Baylor College of Medicine

UNITED STATES

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Angela Scheuerle

Professor

University of Texas Southwestern Medical Center

UNITED STATES

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Sascha Settegast

Wissenschaftlicher Mitarbeiter/Postdoctoral Research Fellow (100%) with the professorship in practical philosophy (Prof. Mario Brandhorst)

Martin Luther University Halle-Wittenberg

GERMANY

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Valery Grinevich

Central Institute of Mental Health

GERMANY

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Ulrike Mütze

Heidelberg University

GERMANY

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Rodney C. Samaco

UNITED STATES

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Thierry A. G. M. Huisman

Baylor College of Medicine

UNITED STATES

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Markus Ries

Professor

UniversitätsKlinikum Heidelberg

GERMANY

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Christian Patrick Schaaf

Research Interests

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About

Articles (20)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

Atypical Prader–Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability

Hidden Patterns and Limitations in Carotid Paraganglioma Genetics: Insights from the VASCUNET Multicentre Study

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

Professionals and individuals with lived experience of childhood‐onset disabilities: Developing networks to improve care

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Educational videos in genetic counseling: Meeting patients where they are?

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

Enhancing the analysis of murine neonatal ultrasonic vocalizations: Development, evaluation, and application of different mathematical models

Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome

Patterns of co‐occurring birth defects in children with anotia and microtia

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome

Genomic newborn screening: Proposal of a two‐stage approach

Collaborators (9)

Theresa V Strong

Anna Malovannaya

Angela Scheuerle

Sascha Settegast

Valery Grinevich

Ulrike Mütze

Rodney C. Samaco

Thierry A. G. M. Huisman

Markus Ries

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