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Articles by Ryan German
Recurrent Carotid Paragangliomas in a Syndromic Patient With a Heterozygous Missense Variant in DNA Methyltransferase 3 Alpha
American Journal of Medical Genetics Part A Author MSS Humans, Female, DNA Methyltransferase 3A, Adult, Mutation, Missense, DNA (Cytosine-5-)-Methyltransferases, Paraganglioma, Heterozygote, Syndrome, Phenotype, Intellectual Disability, DNMT3A, hypermethylation, paraganglioma, exome sequencing yes German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; et al., "Recurrent Carotid Paragangliomas in a Syndromic Patient With a Heterozygous Missense Variant in DNA Methyltransferase 3 Alpha" (2025).
Genetics Services in Latin America: A Descriptive Study of Availability and Utilization of Genetics in Healthcare
Journal of Community Genetics 10.1007/s12687-025-00832-0 Post-print Genetic services, Latin America, Genetic testing, Capacity building yes German, Ryan J; Atkinson, Erin; Storch, Eric A; et al., "Genetics Services in Latin America: A Descriptive Study of Availability and Utilization of Genetics in Healthcare" (2025). Faculty and Staff Publications. 5198. https://digitalcommons.library.tmc.edu/baylor_docs/5198
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
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By Kristy L Jay, Nikhita Gogate, Paige Hall, Kimberly Ezell, Jonathan Andrews, Sharayu Jangam, Hongling Pan, Ryan German, Vanessa Gomez, Emily R. Jellinek-Russo, Eric Alan Storch, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Herman A. Dierick, Joy D. Cogan, John Phillips, Rizwan Hamid, Thomas A. Cassini, Sumit Pruthi, Hua-Chang Chen, Jennifer E. Posey, Michael F. Wangler, Kelvin Pham, Lynette Rives
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Cell Press
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Novel Hemizygous Single-Nucleotide Duplication in RPGR in a Patient With Retinal Dystrophy and Sensorineural Hearing Loss
Background: The RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel-based testing and thus genome-wide tests such as ES may be required for accurate diagnosis. Methods: The Texome Project is studying the impact of ES in medically underserved patients who are in need of genomic testing to guide diagnosis and medical management.
The journey of the texome project: Bridging the gap in genomic medicine
genetic testing, Genetics, genomic medicine, genomic technology, Rare Diseases, Texas Children's Hospital, the Texome Project Imagine this: Kamila, a vibrant 8-year-old, experiences years of debilitating muscle weakness and unexplained fevers. Doctor after doctor runs test after test. Yet, Kamila’s condition remains a mystery, leaving her parents scrambling for answers.
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha
CONFLICT OF INTEREST STATEMENT B.S. is a funder and shareholder of EpiSign Inc., involved in commercial uses of EpiSign™ technologies. Supporting Information Filename Description ajmga63849-sup-0001-TableS1.docxWord 2007 document , 24.3 KB Table S1. DNMT3A variants in the PWWP domain. ajmga63849-sup-0002-TableS2.docxWord 2007 document , 23.7 KB Table S2. Texome project collaborators. REFERENCES (2015). The Mendelian disorders of the epigenetic machinery. Genome Research, 25(10), 1473–1481.
Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
1 INTRODUCTION Recent studies have shown that an increasing proportion of blindness among younger and working-age adults is caused by genetic disorders of the eye including inherited retinal dystrophy, which has an estimated prevalence between 0.06% and 0.2% (Hanany et al., 2020; Heath Jeffery et al., 2021). Inherited retinal dystrophy comprises a group of genetically heterogeneous disorders and to date, pathogenic variants in over 700 genes have been discovered as causal for these disorders.
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
1 BACKGROUND The ATP1A3 gene (OMIM:*182350) on chromosome 19q13 encodes for the α3 subunit of a transmembrane Na+/K+ ATPase. This electrogenic transmembrane ATPase is ubiquitously expressed in the central nervous system and was first described in 1957 (Capuano et al., 2020).
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