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Gulsuner S, AbuRayyan A, Mandell JB, et al. (2024) Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes. Genome Research |
McClellan JM, Zoghbi AW, Buxbaum JD, et al. (2023) An evolutionary perspective on complex neuropsychiatric disease. Neuron |
Aburayyan A, Carlson RJ, Rabie GN, et al. (2023) Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. Human Molecular Genetics |
Carlson RJ, Walsh T, Mandell JB, et al. (2023) Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. Jama Otolaryngology-- Head & Neck Surgery |
Yechieli M, Gulsuner S, Ben-Pazi H, et al. (2021) Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Journal of Medical Genetics |
Carlson RJ, Quesnel A, Wells D, et al. (2021) Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology |
Baxter SK, Walsh T, Casadei S, et al. (2021) Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy and enteropathy, and implications for clinical management. The Journal of Allergy and Clinical Immunology |
Feurstein S, Churpek JE, Walsh T, et al. (2021) Germline variants drive myelodysplastic syndrome in young adults. Leukemia |
Walsh T, Gulsuner S, Lee MK, et al. (2021) Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. Npj Breast Cancer. 7: 6 |
Brownstein Z, Gulsuner S, Walsh T, et al. (2020) Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clinical Genetics. 98: 353-364 |