Keyword

founder mutation

Description: A genetic variant occurring at elevated frequency in a population because it originated in an ancestor whose descendants inherited it.

Primary topic: BRCA gene mutations in cancer (24%)

Wikidata ID: wiki/Q120926535

OpenAlex ID: keywords/founder-mutation

The clonal and mutational evolution spectrum of primary triple-negative breast cancers

2012 · Sohrab P. Shah, Andrew Roth, et al. · Nature · 1,966

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

2004 · Giles D J Watts, Jill Wymer, et al. · Nature Genetics · 1,392

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An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

2009 · Ivona Aksentijevich, Seth L. Masters, et al. · New England Journal of Medicine · 988

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A Familial Alzheimer's Disease Locus on Chromosome 1

1995 · Ephrat Levy-Lahad, Ellen M. Wijsman, et al. · Science · 813

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1998 · Kazuhiro Kobayashi, Yutaka Nakahori, et al. · Nature · 802

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1996 · Benjamin B. Roa, Alfred A. Boyd, et al. · Nature Genetics · 770

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

2010 · Fumiaki Kamada, Yoko Aoki, et al. · Journal of Human Genetics · 752

Genetic diversity and chloroquine selective sweeps in Plasmodium falciparum

2002 · John C. Wootton, Xiaorong Feng, et al. · Nature · 722

Clonal Evolution of Preleukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia

2012 · Max Jan, Thomas M. Snyder, et al. · Science Translational Medicine · 721

RAD51B in Familial Breast Cancer

2016 · Liisa M. Pelttari, Sofia Khan, et al. · PLoS ONE · 669

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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

2002 · Annachiara De Sandre-Giovannoli, Malika Chaouch, et al. · The American Journal of Human Genetics · 565

The spectrum of Familial Mediterranean Fever (FMF) mutations

2001 · Isabelle Touitou · European Journal of Human Genetics · 554

Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations

2005 · Jennifer Kachergus, Ignacio F. Mata, et al. · The American Journal of Human Genetics · 541

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A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

1996 · Steinunn Thorlacius, Gudridur Olafsdottir, et al. · Nature Genetics · 525

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

2001 · Iris Eisenberg, Nili Avidan, et al. · Nature Genetics · 523

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

2017 · Diana Mandelker, Liying Zhang, et al. · JAMA · 513

Population genetics of BRCA1 and BRCA2.

1997 · C I Szabo, M C King · PubMed · 499

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

1995 · Simon A. Gayther, William Warren, et al. · Nature Genetics · 496

Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations

2007 · James D. Fackenthal, Olufunmilayo I. Olopade · Nature reviews. Cancer · 488

Phospholamban R14del Mutation in Patients Diagnosed with Dilated Cardiomyopathy or Arrhythmogenic Right Ventricular Cardiomyopathy: Evidence Supporting the Concept of Arrhythmogenic Cardiomyopathy

2012 · Paul A. van der Zwaag, Ingrid A.W. van Rijsingen, et al. · European Journal of Heart Failure · 465

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The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

2004 · Alessandro Achilli, Chiara Rengo, et al. · The American Journal of Human Genetics · 464

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A susceptibility locus for Parkinson's disease maps to chromosome 2p13

1998 · Thomas Gasser, Bertram Müller-Myhsok, et al. · Nature Genetics · 458

The TNF Receptor-Associated Periodic Syndrome (TRAPS)

2002 · KEITH M. HULL, ELIZABETH DREWE, et al. · Medicine · 455

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

2007 · Gillian Rice, Teresa Patrick, et al. · The American Journal of Human Genetics · 445

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Malignant Hyperthermia

1992 · D. MacLennan, M. Phillips · Science · 434

Works count: 4,581

Citation count: 144,500