Similar articles for PMID: 22981120

Year	Number of Results
1998	1
2000	1
2001	2
2002	1
2003	1
2004	2
2005	1
2006	5
2007	5
2008	1
2009	2
2010	6
2011	3
2012	6
2013	1
2014	3
2015	9
2016	10
2017	7
2018	2
2019	3
2020	4
2021	3
2022	4
2024	0

1

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. Chong JX, et al. Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. Am J Hum Genet. 2012. PMID: 22981120 Free PMC article.

2

Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC. Mathijssen IB, et al. Eur J Med Genet. 2015 Mar;58(3):123-8. doi: 10.1016/j.ejmg.2015.01.004. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641760

3

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Bell CJ, et al. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.

4

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

Song MJ, Lee ST, Lee MK, Ji Y, Kim JW, Ki CS. Song MJ, et al. J Hum Genet. 2012 Feb;57(2):139-44. doi: 10.1038/jhg.2011.144. Epub 2011 Dec 15. J Hum Genet. 2012. PMID: 22170460

5

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A. Zeevi DA, et al. J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31. J Clin Invest. 2015. PMID: 26426075 Free PMC article.

6

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR. Wawrocka A, et al. Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018. Mol Vis. 2018. PMID: 29769798 Free PMC article.

7

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL. Pater JA, et al. Hum Genet. 2017 Jan;136(1):107-118. doi: 10.1007/s00439-016-1746-7. Epub 2016 Nov 12. Hum Genet. 2017. PMID: 27838790 Free PMC article.

8

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I. Philips AK, et al. Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27311568

9

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.

Hanany M, Rivolta C, Sharon D. Hanany M, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2710-2716. doi: 10.1073/pnas.1913179117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964843 Free PMC article.

10

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

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