Schaaf, Christian P.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder.

Hao, Y.-H., Fountain, M. D., Fon Tacer, K., Xia, F., Bi, W., Kang, S.-H. L., Patel, A., Rosenfeld, J. A., Le Caignec, C., Isidor, B., et al. (2015) · Molecular Cell

Ubiquitin and proteasome pathwaysCellular transport and secretion

Cited by 206

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 175

Solving the Autism Puzzle a Few Pieces at a Time

Schaaf, C. P., & Zoghbi, H. Y. (2011) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 166

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 163

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., et al. (2010) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 134

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

Schaaf, C. P., Blazo, M., Lewis, R. A., Tonini, R. E., Takei, H., Wang, J., Wong, L.-J., & Scaglia, F. (2011) · Molecular Genetics and Metabolism

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 88

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 80

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Gillentine, M. A., Lupo, P. J., Stankiewicz, P., & Schaaf, C. P. (2018) · Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 61

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

El-Hattab, A. W., Schaaf, C. P., Fang, P., Roeder, E., Kimonis, V. E., Church, J. A., Patel, A., & Cheung, S. W. (2015) · BMC Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 53

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

Titgemeyer, S. C., & Schaaf, C. P. (2020) · JMIR Pediatrics and Parenting

Health Literacy and Information AccessibilitySocial Media in Health Education

Cited by 49

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

Titgemeyer, S. C., & Schaaf, C. P. (2022) · JMIR Pediatrics and Parenting

Health Literacy and Information AccessibilitySocial Media in Health Education

Cited by 24

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Gillentine, M. A., White, J. J., Grochowski, C. M., Lupski, J. R., Schaaf, C. P., & Calarge, C. A. (2017) · Journal of Child and Adolescent Psychopharmacology

Genomic variations and chromosomal abnormalitiesNicotinic Acetylcholine Receptors Study

Cited by 11