Jackson Health System Medical Biochemical Genetics

Topics

• Hearing, Cochlea, Tinnitus, Genetics 88
• Genomics and Rare Diseases 16
• Genetics and Neurodevelopmental Disorders 14
• Inflammasome and immune disorders 13
• Genomic variations and chromosomal abnormalities 11
• Connective tissue disorders research 10
• Genetic Syndromes and Imprinting 8
• Congenital heart defects research 7
• Metabolism and Genetic Disorders 6
• Mitochondrial Function and Pathology 6
• RNA Research and Splicing 5
• Cellular transport and secretion 4

Most cited

1. Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

   American journal of human genetics · 2025 · 16 citations · Guney Bademci, Mustafa Tekin

2. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

   Brain : a journal of neurology · 2023 · 25 citations · Mustafa Tekin

3. Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.

   Molecular therapy. Methods & clinical development · 2023 · 29 citations · Deborah Barbouth

4. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

   Prenatal diagnosis · 2024 · 11 citations · Willa Thorson

5. De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

   American journal of human genetics · 2025 · 8 citations · Guney Bademci, Nicholas Borja, Mustafa Tekin