Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine
Medical Genetics
Dr. Christian P. Schaaf, MD
Christian Schaaf works in the field of Medical Genetics. He graduated from Baylor College of Medicine. Christian Schaaf is also published. He has 26 publications published. The lastest publication: "High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...'
Publications
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
- Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
- Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
- Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
- NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability.
- Nicotinic acetylcholine receptors in human genetic disease.
- CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
- SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
- NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.
- Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
- Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
- Solving the autism puzzle a few pieces at a time.
- Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
- Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
- Detection of clinically relevant exonic copy-number changes by array CGH.
- Copy Number and SNP Arrays in Clinical Diagnostics.
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
- Novel interaction partners of the TPR/MET tyrosine kinase.
- Identification of incestuous parental relationships by SNP-based DNA microarrays.
- Hans Gunther and his disease.
- Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
- Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
- Amerigroup (Wellpoint)
- Blue Card PPO
- Blue Choice
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Open Access Plus
- Commercial Insurance Company
- Emblem Health
- GEHA
- Choice Care PPO
- Preferred PPO
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
Education
-
Baylor College of Medicine -
Ruprecht Karl University Faculty of Medicine
Hospital
-
Texas Children's Hospital
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