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Mary-Claire King American geneticist ISNI Wikidata

King, Mary-Claire, 1946- Library of Congress/NACO

VIAF ID: 36136530 (Personal)

Permalink: //viaf.org/viaf/36136530

ISNI: 0000  0000  3099  828X 

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Abstracts of papers presented at the Cold Spring Harbor meeting on cancer cells, 1992: Library of Congress/NACO
Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22. Wikidata
Accurate and exact CNV identification from targeted high-throughput sequence data. Wikidata
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO. Wikidata
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Wikidata
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Wikidata
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. Wikidata
Comparative analysis of cancer genes in the human and chimpanzee genomes. Wikidata
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Wikidata
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Wikidata
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis. Wikidata
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Wikidata
Evidence is evidence: an interview with Mary-Claire King. Interviewed by Jane Gitschier. Wikidata
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Wikidata
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Wikidata
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. Wikidata
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Wikidata
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Wikidata
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Wikidata
Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Wikidata
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Wikidata
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Wikidata
Genetic heterogeneity in human disease Wikidata
A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1. Wikidata
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Wikidata
Genomic analysis of mental illness: a changing landscape. Wikidata
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Wikidata
Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers. Wikidata
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy Wikidata
Germline mutations of inhibins in early-onset ovarian epithelial tumors. Wikidata
The Great Adventure of an American Human Geneticist. Wikidata
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. Wikidata
Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer. Wikidata
Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. Wikidata
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. Wikidata
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Wikidata
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Wikidata
Inherited predisposition to breast cancer among African American women. Wikidata
Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Wikidata
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Wikidata
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes Wikidata
Medicine. The future of psychiatric research: genomes and neural circuits Wikidata
Microduplications of 16p11.2 are associated with schizophrenia Wikidata
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Wikidata
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA Wikidata
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. Wikidata
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Wikidata
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Wikidata
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss Wikidata
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Wikidata
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Wikidata
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Wikidata
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform. Wikidata
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies Wikidata
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Wikidata
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Wikidata
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Wikidata
Race: a genetic melting-pot. Wikidata
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia Wikidata
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Wikidata
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Wikidata
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Wikidata
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Wikidata
Research capacity. Enabling the genomic revolution in Africa. Wikidata
Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Wikidata
Schizophrenia: a common disease caused by multiple rare alleles. Wikidata
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Wikidata
Strong association of de novo copy number mutations with autism Wikidata
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Wikidata
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss Wikidata
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Wikidata
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Wikidata

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