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Author Details

Mary-Claire King
University of Washington
1975
313
96
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
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
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
34242045Adaptation and validation of a computerized neurocognitive battery in the Xhosa of South Africa.Neuropsychology2021
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
33957066A tipping point in neuropsychiatric genetics.Neuron2021
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
336673912020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.Am J Hum Genet2021
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
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
336673912020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.Am J Hum Genet2021
34216551Targeted long-read sequencing identifies missing disease-causing variation.Am J Hum Genet2021
34242045Adaptation and validation of a computerized neurocognitive battery in the Xhosa of South Africa.Neuropsychology2021
33957066A tipping point in neuropsychiatric genetics.Neuron2021
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
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
32818257NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.J Clin Endocrinol Metab2020
32747562Genomic analysis of inherited hearing loss in the Palestinian population.Proc Natl Acad Sci U S A2020
33028645Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.Cold Spring Harb Mol Case Stud2020
33111345Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.Clin Genet2020
33108100Hiding in Plain Sight - Somatic Mutation in Human Disease.N Engl J Med2020
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
33028645Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.Cold Spring Harb Mol Case Stud2020
33108100Hiding in Plain Sight - Somatic Mutation in Human Disease.N Engl J Med2020
32747562Genomic analysis of inherited hearing loss in the Palestinian population.Proc Natl Acad Sci U S A2020
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Collaborators

Tom Walsh
University of Washington
Co-authored papers 108
Ming K Lee
University of Washington
Co-authored papers 85
Jon McClellan
University of Washington
Co-authored papers 17
Colin C Pritchard
University of Washington, USA Brotman Baty Institute for Precision Medicine
Co-authored papers 16
Sarah B Pierce
University of Washington
Co-authored papers 15
Alex S Nord
UC Davis Center for Neuroscience.
Co-authored papers 11
Jonathan Sebat
University of California San Diego
Co-authored papers 9
Sunday M Stray
Co-authored papers 8
J J Just
School of Public Health, University of California berkeley
Co-authored papers 8
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 8
Siob??n B Keel
University of Washington School of Medicine
Co-authored papers 8
Barbara L Weber
Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
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Shane McCarthy
Wellcome Sanger Institute
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Glenys Thomson
University of California berkeley
Co-authored papers 6
Lucy A Godley
The University of Chicago
Co-authored papers 5
Lindsey A Criswell
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Dheeraj Malhotra
MS Research Unit
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Carl Baker
University of Washington School of Medicine
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Leonard Lipovich
College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences
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William D Foulkes
Segal Cancer Centre, Jewish General Hospital
Co-authored papers 4
Rodney C P Go
University of Alabama at Birmingham.
Co-authored papers 4
Evan E Eichler
University of Washington
Co-authored papers 4
Diane E Dickel
Co-authored papers 4
Seungtai Yoon
Co-authored papers 3
Arno G Motulsky
University of Washington
Co-authored papers 3
Fergus J Couch
Mayo Clinic
Co-authored papers 3
Mary Kusenda
Clinic for Cattle, University of Veterinary Medicine Hannover
Co-authored papers 3
Michael Gill
Co-authored papers 3
Francis S Collins
University of Michigan ann arbor
Co-authored papers 3
Caitlin Rippey
University of Washington
Co-authored papers 3
Release 1.2