Below are the most recent publications written about "Founder Effect" by people in Profiles.
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Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 03; 107(3):366-368.
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Rehman AU, Peter VG, Quinodoz M, Rashid A, Khan SA, Superti-Furga A, Rivolta C. Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. Genes (Basel). 2019 12 21; 11(1).
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Korecki AJ, Hickmott JW, Lam SL, Dreolini L, Mathelier A, Baker O, Kuehne C, Bonaguro RJ, Smith J, Tan CV, Zhou M, Goldowitz D, Deussing JM, Stewart AF, Wasserman WW, Holt RA, Simpson EM. Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele. Genetics. 2019 04; 211(4):1155-1177.
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Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun. 2017 05 03; 8:14755.
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Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. Br J Dermatol. 2015 Feb; 172(2):527-31.
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Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Wozniak K, Kowalewski C, Has C, Moss C. Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. Br J Dermatol. 2014 Nov; 171(5):1206-10.
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Sandilands A, Smith FJ, Lunny DP, Campbell LE, Davidson KM, MacCallum SF, Corden LD, Christie L, Fleming S, Lane EB, McLean WH. Generation and characterisation of keratin 7 (K7) knockout mice. PLoS One. 2013; 8(5):e64404.
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Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH. Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study. Breast Cancer Res Treat. 2012 Jun; 133(3):1143-52.
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Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol. 2007 Oct; 6(10):857-68.
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Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat. 2007 Jul; 28(7):742.