Baylor Genetics

Recent papers from Baylor Genetics

1. Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel2026
2. Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel DiseaseAmerican Journal of Medical Genetics Part A · 2026
3. Considerations of Gene Expression Analysis Methods for Gapmer Antisense Oligonucleotide-Treated SamplesNucleic Acid Therapeutics · 2026
4. Expanding Clinical and Variant Spectrum of CBX1 ‐Related Syndrome: Report of Three Novel CasesClinical Genetics · 2026
5. Rare Coding Variants in FOXF1 are Associated with Pulmonary Arterial HypertensionAmerican Journal of Respiratory and Critical Care Medicine · 2026
6. Targeting Problems and Adhering to Standards: A Pathway to Uniform Clinical Laboratory Processes that Maximize the Benefits of PharmacogenomicsClinical Pharmacology & Therapeutics · 2026
7. Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixturesCell Genomics · 2026
8. Diagnostic yield of genome sequencing for children with intellectual disability and developmental delayFrontiers in Neurology · 2026
9. L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10American Journal of Medical Genetics Part A · 2026
10. Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology GroupInternational Journal of Cancer · 2026
11. COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )American Journal of Medical Genetics Part A · 2026
12. Genomic predisposition is associated with the direction of sex chromosome evolutionScience · 2026
13. Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico BorderClinical Genetics · 2026
14. SOX10 restricts the formation of ectopic sensory patches in the postnatal mouse cochleaHearing Research · 2026
15. Intra-abdominal Bowel Dilation in Experimental Gastroschisis Is Associated With a Modifiable Transcriptomic Program of Intestinal DysfunctionAnnals of Surgery · 2026
16. High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing ( HYDROPS ) StudyAmerican Journal of Medical Genetics Part A · 2026
17. Adaptive and degenerative mitochondrial remodeling define distinct redox states in age-related macular degenerationRedox Biology · 2026
18. Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2eLife · 2026
19. Gamma Delta T Cells in Shrimp Allergy Express a Unique Cytotoxic Cytokine ProfileClinical and Translational Allergy · 2026
20. High-level estrogen impairs memory via estrogen receptor signaling in a hypothalamic–hippocampal neural circuit中国科学通报：英文版 · 2026