Christian Schaaf
Affiliations: | Baylor College of Medicine, Houston, TX |
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"Christian Schaaf"Mean distance: 16.34 (cluster 11) | S | N | B | C | P |
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Publications
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| Schubert T, Schaaf CP. (2024) MAGEL2 (patho-)physiology and Schaaf-Yang syndrome. Developmental Medicine and Child Neurology |
| Heimdörfer D, Vorleuter A, Eschlböck A, et al. (2024) Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes. American Journal of Human Genetics. 111: 1383-1404 |
| Wimmer MC, Brennenstuhl H, Hirsch S, et al. (2024) Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical Genetics |
| van der Laan L, Karimi K, Rooney K, et al. (2023) DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101050 |
| Dötsch L, Matesevac L, Strong TV, et al. (2023) Caregiver-based perception of disease burden in Schaaf-Yang syndrome. Molecular Genetics & Genomic Medicine. e2262 |
| Kampmeier A, Leitão E, Parenti I, et al. (2023) -associated Chung-Jansen syndrome: Report of 23 new individuals. Frontiers in Cell and Developmental Biology. 10: 1020609 |
| Reznik DL, Yang MV, de la Haza PA, et al. (2023) Truncated rat Magel2 modelled for the study of Schaaf-Yang syndrome alters select behavioral and physiological outcomes. Disease Models & Mechanisms |
| Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, et al. (2022) Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome. American Journal of Medical Genetics. Part A |
| Riggs ER, Bingaman TI, Barry CA, et al. (2022) Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Bertacchi M, Tocco C, Schaaf CP, et al. (2022) Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 11 |