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Authors whose works are in public domain in at least one jurisdiction

List of works by Mary-Claire King

"The race" to clone BRCA1.

scientific article published in March 2014

2012 Presidential Address: The Scientist as a Citizen of the World1 ⬇️

scientific article published on March 7, 2013

A Time to Sequence

scientific article

A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency

scientific article published on 01 November 2001

A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1

scientific article

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

scientific article published on 7 August 2014

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

scientific journal article

A novel BRCA2-binding protein and breast and ovarian tumorigenesis

scientific article published in March 2004

A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cryopreserved lymphocytes ⬇️

scientific article published on March 1, 1991

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

scientific article published on 20 July 2018

A phase I trial of retroviral BRCA1sv gene therapy in ovarian cancer.

scientific article published in November 1997

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss

scientific article

Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22

scientific article

Accurate and exact CNV identification from targeted high-throughput sequence data

scientific article

African-American HLA class II allele and haplotype diversity

scientific article published on 01 December 1996

African-American HLA class II allele and haplotype diversity.

scientific article

Allele increasing susceptibility to human breast cancer may be linked to the glutamate-pyruvate transaminase locus.

scientific article published on April 1980

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

scientific article published on 30 May 2014

An Application of DNA Sequencing to a Human Rights Problem

scientific article published on January 1, 1991

Association of duffy blood groups with the suckle cell trait ⬇️

scientific article published on April 15, 1976

Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk.

scientific article published in August 1990

BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.

scientific article

BRCA1 is secreted and exhibits properties of a granin

scientific article

BRCA1 transcriptionally regulates genes involved in breast tumorigenesis

scientific article

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma

scientific article published on 18 July 2012

BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

scientific article

BRCA2 in Ovarian Development and Function. Reply

scientific article published on 01 March 2019

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO.

scientific article

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

scientific article (publication date: 24 October 2003)

Breast cancer genes: how many, where and who are they?

scientific article published on 01 October 1992

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CCR5del32 in perinatal HIV-1 infection.

scientific article published on December 1997

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

scientific article published on 15 October 2020

Call for a worldwide survey of human genetic diversity: A vanishing opportunity for the Human Genome Project ⬇️

scientific article published on October 1, 1991

Characteristics of smoking- discordant monozygotic twins

scientific article published on 01 January 1981

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region ⬇️

scientific article published on November 1, 1991

Clinical usefulness of genetic information for predicting radiographic damage in rheumatoid arthritis

scientific article published on 01 October 2002

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population

scientific article published on 5 September 2022

Closing in on a breast cancer gene on chromosome 17q ⬇️

scientific article published on June 1, 1992

Collaborative genomics for human health and cooperation in the Mediterranean region

article

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

scientific article

Comparative analysis of cancer genes in the human and chimpanzee genomes

scientific article

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1

scientific article

Complex segregation analysis of primary hepatocellular carcinoma in Chinese families: interaction of inherited susceptibility and hepatitis B viral infection ⬇️

scientific article published on July 1, 1991

Concordance for type 2 (non-insulin-dependent) diabetes mellitus in male twins

scientific article published on 01 October 1987

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer

scientific article

DBC2, a candidate for a tumor suppressor gene involved in breast cancer

scientific article

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

scientific article published on 31 January 2018

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

scientific article published on 27 March 2014

Defining women at high risk of ovarian cancer

scientific article published on 01 March 2007

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

scientific article

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

scientific article published on June 2016

Duffy Blood Group and Malaria ⬇️

scientific article published on March 26, 1976

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

scientific article

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

scientific article published in Nature

Erratum: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

article

Essential Role of BRCA2 in Ovarian Development and Function

Evidence is evidence: an interview with Mary-Claire King. Interviewed by Jane Gitschier

scientific article

Evidence of genetic influence on central body fat in middle-aged twins.

scientific article

Evolution at two levels in humans and chimpanzees

scientific article (publication date: 11 April 1975)

Eye color and hypertension.

scientific article published on November 1990

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

scientific article published on 22 October 2015

Familial breast cancer in a population-based series

scientific article published on 01 January 1986

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

scholarly article

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

scientific article published on 24 February 2017

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

scientific article

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

scientific article published on October 2013

Forum: The interplay of genes and environment in psychiatric disorders

scientific article published in July 2008

Frequency of breast cancer attributable to BRCA1 in a population-based series of American women

scientific article published on 01 March 1998

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

scientific article

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

scientific article published on 13 January 2005

Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation

scientific article published on January 2007

Further characterization of the DFNA1 audiovestibular phenotype.

scientific article published in June 1998

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

scientific article published on 31 October 2011

Gene Discovery for Complex Traits: Lessons from Africa

scientific article published in October 2017

Genetic Epidemiology of Breast and Ovarian Cancers ⬇️

scientific article published on January 1, 1997

Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women

scientific article published on 20 July 2017

Genetic analysis of human breast cancer: A synthesis of contributions to Gaw IV

Genetic analysis of human breast cancer: a synthesis of contributions to GAW IV

scientific article published on 01 January 1986

Genetic epidemiology

scholarly article by Mary-Claire King et al published 1 January 1984 in Annual Review of Public Health

Genetic epidemiology of breast cancer and associated cancers in high-risk families. I. Segregation analysis.

scientific article published on September 1983

Genetic epidemiology of breast cancer and associated cancers in high-risk families. II. Linkage analysis.

scientific article

Genetic epidemiology of breast cancer: a comment on heterogeneity

scholarly article by Mary-Claire King & Elston RC published 1 January 1985 in Genetic Epidemiology

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

scientific article

Genetic heterogeneity in human disease

scientific article

Genetic influences on changes in body mass index: a longitudinal analysis of women twins.

scientific article published in July 1997

Genetic linkage group (ARG1-D6S33-MYB) on chromosome 6q containing the arginase-1 and MYB genes

scientific article published on 01 January 1990

Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes.

scientific article published in January 1993

Genetics and genomics: a call for papers

scientific article published on September 2007

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

scientific article published on 8 February 2002

Genetics of hearing loss in the Arab population of Northern Israel

article

Genetics of schizophrenia in the South African Xhosa

scientific article published on 31 January 2020

Genome-sequencing anniversary. A healthy son

scientific article published on 01 February 2011

Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4

scientific article published on 15 July 2002

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

scientific article published on January 2006

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

scientific article

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

scientific article

Genomic analysis of inherited hearing loss in the Palestinian population

scientific article published on 03 August 2020

Genomic analysis of mental illness: a changing landscape

scientific article

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

scientific article

Genomic sequencing in the service of human rights

scientific article published on 01 February 2002

Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers.

scientific article published on May 2008

Genomic views of human history.

scientific article

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

scientific article

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

scientific article

Germline mutations of inhibins in early-onset ovarian epithelial tumors

scientific article

Green Pigs, Red Herrings, and a Golden Hoe: A Retrospective on the Identification of BRCA1 and the Beginning of Its Characterization ⬇️

scientific article published on January 1, 1994

Growth retardation and tumour inhibition by BRCA1.

scientific article published in March 1996

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2

scientific article published on 13 September 2016

Hardy-Weinberg testing for HLA class II (DRB1, DQA1, DQB1, AND DPB1) loci in 26 human ethnic groups

scientific article published on 01 December 1999

Heritability of longitudinal changes in coronary-heart-disease risk factors in women twins.

scientific article

Heterogeneity analysis of breast cancer families by using age at onset as a covariate ⬇️

scientific article published on March 1, 1992

Hodgkin's disease susceptibility: linkage to the HLA locus demonstrated by a new concordance method

scientific article published on 01 April 1983

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

scientific article published on 16 March 2015

Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections

scientific article published on February 2012

Human genetics and human rights. Identifying the families of kidnapped children

scientific article published on 01 December 1984

Human genetics. Mapping human history

scientific article published in December 2002

Human genetics. Sexual orientation and the X

scientific article

Human, canine and murine BRCA1 genes: sequence comparison among species.

scientific article published in September 1996

Identification of Id4 as a regulator of BRCA1 expression by using a ribozyme-library-based inverse genomics approach

scientific article

Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer

scientific article

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

scientific article published on 4 August 2016

Identifying individuals by sequencing mitochondrial DNA from teeth

scientific article published on October 1, 1992

Improving performance of multigene panels for genomic analysis of cancer predisposition.

scientific article

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

scientific article

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

scientific article published on July 2016

Influence of host genotype on progression to acquired immunodeficiency syndrome among children infected with human immunodeficiency virus type 1.

scientific article

Inheritance of the shared epitope and long-term outcomes of rheumatoid arthritis among community-based Caucasian females ⬇️

scientific article published on January 1, 1998

Inherited Breast Cancer in Nigerian Women

Inherited Mutations in Women With Ovarian Carcinoma

scientific article

Inherited breast and ovarian cancer.

scientific article published on January 1995

Inherited breast cancer: an emerging picture

scientific article published on 01 December 1998

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

scientific article

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia

scientific article

Inherited predisposition to breast cancer among African American women

scientific article

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

scientific article published on 11 April 2019

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)

scientific article published on 01 January 2019

Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers

scientific article published on 28 August 2018

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Lasker Award winner Mary-Claire King

scientific article published in October 2014

Leaving Kansas ... finding genes in 1997

scientific article published on 01 January 1997

Linkage analysis of Dutch families at high risk for breast cancer

scientific article published on 01 January 1986

Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.

scientific article

Linkage of early-onset familial breast cancer to chromosome 17q21

scientific article

Linkage of familial breast cancer to chromosome 17q21 may not be restricted to early-onset disease ⬇️

scientific article published on June 1, 1992

Long terminal repeat and nef gene variants of human immunodeficiency virus type 1 in perinatally infected long-term survivors and rapid progressors.

scientific article published in December 1997

Loss of function germline mutations in RAD51D in women with ovarian carcinoma

scientific article published on 14 September 2012

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

scientific article

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

scientific article

MHC class II alleles associated with clinical and immunological manifestations of HIV-1 infection among children in Catalonia, Spain.

scientific article

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform

scientific article published on 3 February 2016

Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1

scientific article

Maternal famine, de novo mutations, and schizophrenia

scientific article published on 01 August 2006

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene

article

Medicine. The future of psychiatric research: genomes and neural circuits

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

scientific article

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutation analysis of the BRCA1 gene in ovarian cancers.

scientific article published on July 1995

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

scientific article

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

scientific article published on 6 April 2016

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.

scientific article

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

scientific article

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

scientific article

Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: an NRG Oncology/Gynecologic Oncology Group Study

scientific article

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

scientific article published on 28 March 2013

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

scientific article

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

scientific article

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

scientific article

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

scientific article

New data on glucose-6-phosphate dehydrogenase deficiency in Saudi Arabia. G6PD variants, and the association between enzyme deficiency and hemoglobins S

scientific article published on January 1, 1977

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 ⬇️

scientific article (publication date: 15 October 2001)

Nongenetic influences of obesity on other cardiovascular disease risk factors: an analysis of identical twins

scientific article published on 01 June 1990

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

scientific article published on 14 May 2010

Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous ⬇️

scientific article published on November 14, 1997

Not just Salk

scientific article published in September 2017

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

scientific journal article

Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families

scientific article (publication date: December 1995)

Novel transcriptional units and unconventional gene pairs in the human genome: toward a sequence-level basis for primate-specific phenotypes?

scientific article published on 01 January 2003

Outcomes in Peritoneal Dissemination from Signet Ring Cell Carcinoma of the Appendix Treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy

scientific article published on 06 December 2018

PCR detection of an MboI polymorphism in the ERBB2 (HER2; NEU) gene on chromosome 17q11.2-q12.

scientific article published on May 1991

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Polymorphisms of mitochondrially encoded proteins

scientific article

Population genetics of BRCA1 and BRCA2.

scientific article published in May 1997

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award

scientific article published in September 2014

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

scientific article

Practical guide for estimating risk for familial breast cancer

scientific article published on 01 September 1983

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

article

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

scientific article

Proposed Shift in Screening for Breast Cancer—Reply

scientific article published in The Journal of the American Medical Association

Race: a genetic melting-pot

scientific article

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

scientific article

Relative predispositional effects and mode of inheritance of HLA-DRB1 alleles among community-based Caucasian females with rheumatoid arthritis ⬇️

scientific article published on January 1, 1998

Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor

scientific article published on 30 March 2015

Research capacity. Enabling the genomic revolution in Africa

scientific article published in June 2014

Response scales and sequential effects in judgment ⬇️

scientific article published on December 1, 1981

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

scientific article

Risk factors for benign breast disease: a case-control study of discordant twins.

scientific article published in October 1984

Risk factors for coronary heart disease in adult female twins. Genetic heritability and shared environmental influences

scientific article published on 01 February 1987

Risk factors in breast cancer

scientific article published on 01 December 1981

Risk of breast cancer to relatives of young breast cancer patients.

scientific article

Schizophrenia: a common disease caused by multiple rare alleles

scientific article published on March 2007

Screening for abnormal hemoglobins in the middle east: new data on hemoglobin S and the presence of hemoglobin C in Saudi Arabia.

scientific article published on January 1976

SeqHelp: A Program to Analyze Molecular Sequences Utilizing Common Computational Resources ⬇️

scientific article published on March 1, 1998

Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility.

scientific article published in November 1999

Social structuring of mammalian populations and rate of chromosomal evolution ⬇️

scientific article (publication date: December 1975)

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

scientific article published on August 2013

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

scientific article published on 24 August 2020

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

scientific article published in March 2006

Strong association of de novo copy number mutations with autism

scientific article

Structure of a BRCA1-BARD1 heterodimeric RING-RING complex

scientific article

Synergy between T cell receptor beta gene polymorphism and HLA-DR4 in susceptibility to rheumatoid arthritis.

scientific article published in June 1996

Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.

scientific article published in November 2001

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

scientific article

Ten genes for inherited breast cancer

scientific article published in February 2007

Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply

scientific article published on 01 July 2018

The Applications of Molecular Evolution to Systematics: Rates, Regulation, and the Role of Natural Selection

scientific article published in 1977

The Cancer-predisposing Mutation C61G Disrupts Homodimer Formation in the NH2-terminal BRCA1 RING Finger Domain ⬇️

scientific article published on April 3, 1998

The Great Adventure of an American Human Geneticist

scientific article published on 21 April 2016

The gene for an inherited form of deafness maps to chromosome 5q31 ⬇️

scientific article published on June 1, 1992

The influence of social and political violence on the risk of pregnancy complications

scientific article published on 01 May 1992

The inheritance of immunoglobulin E: genetic linkage analysis.

scientific article published in December 1983

The scientist as world citizen

scientific article

The search for BRCA1

scientific article (publication date: 15 December 1994)

Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer

scientific article published on 01 September 2005

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

article

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens

scientific article published on 2 November 2013

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

scientific article published on 10 February 2017

Who Can You Trust?

story

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

scientific article

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