Publications by authors named "Mary-Claire King"

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Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.
Sarah B Pierce, Hannah Kortbawi, Suleyman Gulsuner, Jessica B Mandell, Ming K Lee, Mary-Claire King

Proc Natl Acad Sci U S A· October 2025

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Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.
Angela L Jacobson, Amal AbuRayyan, Suleyman Gulsuner, Haley Slater, Yagiz Anasiz, Mary-Claire King

J Med Genet· September 2025

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TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, Tom Walsh, Ming K Lee, Mary-Claire King

J Natl Cancer Inst· May 2025

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Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes.
Suleyman Gulsuner, Amal AbuRayyan, Jessica B Mandell, Ming K Lee, Greta V Bernier, Mary-Claire King

Genome Res· November 2024

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BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.
Heather H Cheng, Jeffrey W Shevach, Elena Castro, Fergus J Couch, Susan M Domchek, Mary-Claire King

JAMA Oncol· September 2024

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An evolutionary perspective on complex neuropsychiatric disease.
Jon M McClellan, Anthony W Zoghbi, Joseph D Buxbaum, Carolina Cappi, James J Crowley, Mary-Claire King

Neuron· January 2024

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Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.
Charlotte Benoit, Ryan J Carlson, Mary-Claire King, David L Horn, Jay T Rubinstein

Hear Res· November 2023

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A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Amal Aburayyan, Ryan J Carlson, Grace N Rabie, Ming K Lee, Suleyman Gulsuner, Mary-Claire King

Hum Mol Genet· July 2023

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Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Ryan J Carlson, Tom Walsh, Jessica B Mandell, Amal Aburayyan, Ming K Lee, Mary-Claire King

JAMA Otolaryngol Head Neck Surg· March 2023

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Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
Tal Freund, Sarah K Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, Mary-Claire King

J Clin Immunol· January 2023

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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, Aviva Fattal, Adi Aran, Mary-Claire King

J Med Genet· August 2022

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Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Gabriela E S Felix, Rodrigo Santa Cruz Guindalini, Yonglan Zheng, Tom Walsh, Elisabeth Sveen, Mary-Claire King

Breast Cancer Res Treat· June 2022

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Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Sarah K Baxter, Tom Walsh, Silvia Casadei, Mary M Eckert, Eric J Allenspach, Mary-Claire King

J Allergy Clin Immunol· January 2022

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CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in and other tumour suppressor genes.
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Mary-Claire King

J Med Genet· December 2021

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Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
Ryan J Carlson, Alicia Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Mary-Claire King

Otol Neurotol· September 2021

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Adaptation and validation of a computerized neurocognitive battery in the Xhosa of South Africa.
J Cobb Scott, Tyler M Moore, Dan J Stein, Adele Pretorius, Zukiswa Zingela, Mary Claire King

Neuropsychology· September 2021

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Germline variants drive myelodysplastic syndrome in young adults.
Simone Feurstein, Jane E Churpek, Tom Walsh, Sioban Keel, Marja Hakkarainen, Mary-Claire King

Leukemia· August 2021

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Targeted long-read sequencing identifies missing disease-causing variation.
Danny E Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Mary-Claire King

Am J Hum Genet· August 2021

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A tipping point in neuropsychiatric genetics.
Jon M McClellan, Mary-Claire King

Neuron· May 2021

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2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.
Mary-Claire King

Am J Hum Genet· March 2021

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Cisplatin +/- rucaparib after preoperative chemotherapy in patients with triple-negative or BRCA mutated breast cancer.
Maitri Kalra, Yan Tong, David R Jones, Tom Walsh, Michael A Danso, Mary-Claire King

NPJ Breast Cancer· March 2021

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Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Tom Walsh, Suleyman Gulsuner, Ming K Lee, Melissa A Troester, Andrew F Olshan, Mary-Claire King

NPJ Breast Cancer· January 2021

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Hiding in Plain Sight - Somatic Mutation in Human Disease.
Ephrat Levy-Lahad, Mary-Claire King

N Engl J Med· December 2020

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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Simone Feurstein, Ayodeji Adegunsoye, Danijela Mojsilovic, Rekha Vij, Allison H West DePersia, Mary-Claire King

Blood Adv· October 2020

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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, Fábio T A Martins, Shahar Taiber, Mary-Claire King

Clin Genet· October 2020

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