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Office
333 N Santa Rosa
San Antonio, TX 78207Phone+1 210-704-3391Fax+1 210-704-4520
Education & Training
- University of California (San Francisco)Residency, Medical Genetics and Genomics, 1992 - 1995
- University of Arizona College of Medicine-TucsonResidency, Pediatrics, 1989 - 1992
- Texas A&M; Health Science Center College of MedicineClass of 1989
Certifications & Licensure
- TX State Medical License 2003 - 2026
- CA State Medical License 1992 - 2003
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 137 citationsMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie Claire Daugeron
Nature Genetics. 2017-10-01 - 24 citationsVariants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang
Brain. 2020-12-01 - 78 citationsPathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani
Human Genetics. 2016-04-12
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