|
| 36633841 | Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. | JAMA Otolaryngol Head Neck Surg | 2023 |
| 37074134 | A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. | Hum Mol Genet | 2023 |
| 36633841 | Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. | JAMA Otolaryngol Head Neck Surg | 2023 |
| 37074134 | A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. | Hum Mol Genet | 2023 |
| 33864888 | Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. | J Allergy Clin Immunol | 2022 |
| 33864888 | Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. | J Allergy Clin Immunol | 2022 |
| 33479248 | Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. | NPJ Breast Cancer | 2021 |
| 33479248 | Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. | NPJ Breast Cancer | 2021 |
| 33510405 | Germline variants drive myelodysplastic syndrome in young adults. | Leukemia | 2021 |
| 33375991 | Characterizing TP53 mutations in ovarian carcinomas with and without concurrent BRCA1 or BRCA2 mutations. | Gynecol Oncol | 2021 |
| 33510405 | Germline variants drive myelodysplastic syndrome in young adults. | Leukemia | 2021 |
| 33375991 | Characterizing TP53 mutations in ovarian carcinomas with and without concurrent BRCA1 or BRCA2 mutations. | Gynecol Oncol | 2021 |
| 32709535 | Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20Â years. | Gynecol Oncol | 2020 |
| 32709535 | Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20Â years. | Gynecol Oncol | 2020 |
| 32747562 | Genomic analysis of inherited hearing loss in the Palestinian population. | Proc Natl Acad Sci U S A | 2020 |
| 33111345 | Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. | Clin Genet | 2020 |
| 33111345 | Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. | Clin Genet | 2020 |
| 32747562 | Genomic analysis of inherited hearing loss in the Palestinian population. | Proc Natl Acad Sci U S A | 2020 |
| 30975761 | Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. | Proc Natl Acad Sci U S A | 2019 |
| 31843900 | Characterization of splice-altering mutations in inherited predisposition to cancer. | Proc Natl Acad Sci U S A | 2019 |
| 30975761 | Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. | Proc Natl Acad Sci U S A | 2019 |
| 31843900 | Characterization of splice-altering mutations in inherited predisposition to cancer. | Proc Natl Acad Sci U S A | 2019 |
| 29191972 | Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study. | Clin Cancer Res | 2018 |
| 30130155 | Inherited Breast Cancer in Nigerian Women. | J Clin Oncol | 2018 |
| 29191972 | Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study. | Clin Cancer Res | 2018 |
| 30130155 | Inherited Breast Cancer in Nigerian Women. | J Clin Oncol | 2018 |
| 28559357 | Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in <i>thrombopoietin</i>. | Blood | 2017 |
| 28559357 | Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in <i>thrombopoietin</i>. | Blood | 2017 |
| 28727877 | Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. | JAMA Oncol | 2017 |
| 28486781 | Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. | Int J Cancer | 2017 |
| 28188302 | Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. | Neurology | 2017 |
| 28486781 | Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. | Int J Cancer | 2017 |
| 28188302 | Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. | Neurology | 2017 |
| 28727877 | Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. | JAMA Oncol | 2017 |
| 26720728 | Inherited Mutations in Women With Ovarian Carcinoma. | JAMA Oncol | 2016 |
| 26847329 | Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. | JAMA Oncol | 2016 |
| 26845104 | Improving performance of multigene panels for genomic analysis of cancer predisposition. | Genet Med | 2016 |
| 27049303 | Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. | Eur J Hum Genet | 2016 |
| 26720728 | Inherited Mutations in Women With Ovarian Carcinoma. | JAMA Oncol | 2016 |
| 27164683 | Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. | Neurology | 2016 |
| 26718727 | Genetic characterization of early onset ovarian carcinoma. | Gynecol Oncol | 2016 |
| 26712909 | Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. | Blood | 2016 |
| 26641009 | Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. | Cancer | 2016 |
| 26495788 | FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. | Pancreas | 2016 |
| 27551684 | Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. | Cold Spring Harb Mol Case Stud | 2016 |
| 27497531 | Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. | Biol Blood Marrow Transplant | 2016 |
| 26641009 | Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. | Cancer | 2016 |
| 26495788 | FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. | Pancreas | 2016 |
| 27497531 | Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. | Biol Blood Marrow Transplant | 2016 |
| 27164683 | Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. | Neurology | 2016 |