Christian Schaaf

Affiliations: 
Baylor College of Medicine, Houston, TX 
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"Christian Schaaf"
Mean distance: 16.34 (cluster 11)
 
SNBCP
Cross-listing: BCM Tree

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Publications

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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
Sakai Y, Okuzono S, Schaaf CP, et al. (2021) Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. Pediatric Research
Semino F, Schröter J, Willemsen MH, et al. (2021) Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. Human Mutation
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