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Author Details

Tom Walsh
University of Washington
1996
138
66
PMIDPaper TitleJournal TitlePublished Year
36063261Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.J Clin Immunol2023
36063261Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.J Clin Immunol2023
37074134A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.Hum Mol Genet2023
36633841Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.JAMA Otolaryngol Head Neck Surg2023
37074134A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.Hum Mol Genet2023
36633841Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.JAMA Otolaryngol Head Neck Surg2023
34321325Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.J Med Genet2022
35624357Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3.J Clin Immunol2022
35353237Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.Breast Cancer Res Treat2022
33837488A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.Fam Cancer2022
34321325Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.J Med Genet2022
33864888Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.J Allergy Clin Immunol2022
35353237Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.Breast Cancer Res Treat2022
35624357Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3.J Clin Immunol2022
33864888Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.J Allergy Clin Immunol2022
33837488A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.Fam Cancer2022
33479248Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.NPJ Breast Cancer2021
33753748Cisplatin +/- rucaparib after preoperative chemotherapy in patients with triple-negative or BRCA mutated breast cancer.NPJ Breast Cancer2021
33479248Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.NPJ Breast Cancer2021
34216551Targeted long-read sequencing identifies missing disease-causing variation.Am J Hum Genet2021
34049328Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.Otol Neurotol2021
33510405Germline variants drive myelodysplastic syndrome in young adults.Leukemia2021
33060287CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in <i>BRCA1</i> and other tumour suppressor genes.J Med Genet2021
33423175Multidisciplinary Surgical Approach to Increase Complete Cytoreduction Rates for Advanced Ovarian Cancer in a Tertiary Gynecologic Oncology Center.Ann Surg Oncol2021
33510405Germline variants drive myelodysplastic syndrome in young adults.Leukemia2021
33753748Cisplatin +/- rucaparib after preoperative chemotherapy in patients with triple-negative or BRCA mutated breast cancer.NPJ Breast Cancer2021
34216551Targeted long-read sequencing identifies missing disease-causing variation.Am J Hum Genet2021
34049328Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.Otol Neurotol2021
33060287CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in <i>BRCA1</i> and other tumour suppressor genes.J Med Genet2021
33423175Multidisciplinary Surgical Approach to Increase Complete Cytoreduction Rates for Advanced Ovarian Cancer in a Tertiary Gynecologic Oncology Center.Ann Surg Oncol2021
32462292A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.Neurogenetics2020
32081490Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology2020
31911673Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".Genet Med2020
32001654Genetics of schizophrenia in the South African Xhosa.Science2020
32462292A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.Neurogenetics2020
32747562Genomic analysis of inherited hearing loss in the Palestinian population.Proc Natl Acad Sci U S A2020
33111345Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.Clin Genet2020
32997669Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.PLoS One2020
32001654Genetics of schizophrenia in the South African Xhosa.Science2020
32081490Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology2020
31911673Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".Genet Med2020
33111345Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.Clin Genet2020
32747562Genomic analysis of inherited hearing loss in the Palestinian population.Proc Natl Acad Sci U S A2020
32997669Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.PLoS One2020
30975761Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.Proc Natl Acad Sci U S A2019
31843900Characterization of splice-altering mutations in inherited predisposition to cancer.Proc Natl Acad Sci U S A2019
29889230Sarcopenia and Inflammatory Bowel Disease: A Systematic Review.Inflamm Bowel Dis2019
30154229Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in <i>BRCA1</i> Mutation Carriers.Clin Cancer Res2019
30247636Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Hum Mol Genet2019
30975761Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.Proc Natl Acad Sci U S A2019
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Collaborators

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Balasubramanian Lakshmi
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Wendy H Raskind
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Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 3
Michael J Bamshad
University of Washington
Co-authored papers 3
Fuki M Hisama
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Co-authored papers 3
Mary Kusenda
Clinic for Cattle, University of Veterinary Medicine Hannover
Co-authored papers 3
Deborah A Nickerson
University of Washington
Co-authored papers 3
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 3
Caitlin Rippey
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Co-authored papers 3
Release 1.2