| 426. Functional Characterization of De Novo Damaging Mutations in Patients With Sporadic Schizophrenia Using CRISPRi in iPSCs A Sunshine, S Gulsuner, T Walsh, MC King, J McClellan Biological Psychiatry 95 (10), S274, 2024 | | 2024 |
| A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss A Aburayyan, RJ Carlson, GN Rabie, MK Lee, S Gulsuner, T Walsh, ... Human Molecular Genetics 32 (14), 2265-2268, 2023 | | 2023 |
| 439. Functional Characterization of Damaging Mutations in Patients With Sporadic Schizophrenia Using CRISPRi in iPSCS A Sunshine, S Gulsuner, T Walsh, MC King, J McClellan Biological Psychiatry 93 (9), S272, 2023 | | 2023 |
| Association of genetic diagnoses for childhood-onset hearing loss with cochlear implant outcomes RJ Carlson, T Walsh, JB Mandell, A Aburayyan, MK Lee, S Gulsuner, ... JAMA Otolaryngology–Head & Neck Surgery 149 (3), 212-222, 2023 | 14 | 2023 |
| Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population T Freund, SK Baxter, T Walsh, H Golan, J Kapelushnik, ... Journal of Clinical Immunology 43 (1), 151-164, 2023 | 1 | 2023 |
| 906 De novo mutations in childhood-onset systemic lupus erythematosus SK Baxter, S Gulsuner, MM Eckert, MK Lee, T Walsh, A Stevens, MC King Lupus Science & Medicine 9 (Suppl 3), 2022 | | 2022 |
| Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy M Yechieli, S Gulsuner, H Ben-Pazi, A Fattal, A Aran, A Kuzminsky, L Sagi, ... Journal of Medical Genetics 59 (8), 759-767, 2022 | 12 | 2022 |
| Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3 SK Baxter, S Gulsuner, D Hagin, TR Torgerson, T Walsh Journal of Clinical Immunology 42 (6), 1164-1167, 2022 | | 2022 |
| Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil GES Felix, RSC Guindalini, Y Zheng, T Walsh, E Sveen, TMM Lopes, ... Breast Cancer Research and Treatment 193 (2), 485-494, 2022 | 8 | 2022 |
| P478. Functional Characterization of Rare and Protein-Damaging Mutations in Patients With Sporadic Schizophrenia Using CRISPRi in iPSCs A Sunshine, S Gulsuner, T Walsh, MC King, J McClellan Biological Psychiatry 91 (9), S282, 2022 | | 2022 |
| A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer I Kedar, L Walsh, GR Levi, S Lieberman, AA Shtaya, SN Nathan, ... Familial Cancer, 1-8, 2022 | 3 | 2022 |
| Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management SK Baxter, T Walsh, S Casadei, MM Eckert, EJ Allenspach, D Hagin, ... Journal of Allergy and Clinical Immunology 149 (1), 327-339, 2022 | 24 | 2022 |
| CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes T Walsh, S Casadei, KM Munson, M Eng, JB Mandell, S Gulsuner, ... Journal of medical genetics 58 (12), 850-852, 2021 | 22 | 2021 |
| Mutational Spectrum of Breast Cancer Susceptibility Genes among Women in Northeast Brazil GES Felix, RSC Guindalini, Y Zheng, T Walsh, E Sveen, TMM Lopes, ... | | 2021 |
| Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder RJ Carlson, A Quesnel, D Wells, Z Brownstein, D Gilony, S Gulsuner, ... Otology & Neurotology 42 (8), e1143-e1151, 2021 | 1 | 2021 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 131 | 2021 |
| Germline variants drive myelodysplastic syndrome in young adults S Feurstein, JE Churpek, T Walsh, S Keel, M Hakkarainen, T Schroeder, ... Leukemia 35 (8), 2439-2444, 2021 | 52 | 2021 |
| Inherited predisposition to breast cancer in the Carolina Breast Cancer Study T Walsh, S Gulsuner, MK Lee, MA Troester, AF Olshan, HS Earp, ... NPJ breast cancer 7 (1), 6, 2021 | 13 | 2021 |
| Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations S Feurstein, A Adegunsoye, D Mojsilovic, R Vij, AH West DePersia, ... Blood Advances 4 (19), 4873-4886, 2020 | 32 | 2020 |
| A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures R Segel, A Aran, S Gulsuner, H Nakamura, T Rosen, T Walsh, H Denda, ... neurogenetics 21, 259-267, 2020 | 9 | 2020 |
