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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21.
Eur J Hum Genet. 2016.
PMID: 26486474
Free PMC article.
Review.
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Prattichizzo C, et al.
Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Hum Mutat. 2008.
PMID: 18546297
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.
Del Giudice E, et al.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Orphanet J Rare Dis. 2014.
PMID: 24884629
Free PMC article.
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Comprehensive human amniotic fluid metagenomics supports the sterile womb hypothesis.
Wang H, Yang GX, Hu Y, Lam P, Sangha K, Siciliano D, Swenerton A, Miller R, Tilley P, Von Dadelszen P, Kalyan S, Tang P, Patel MS.
Wang H, et al. Among authors: swenerton a.
Sci Rep. 2022 Apr 27;12(1):6875. doi: 10.1038/s41598-022-10869-7.
Sci Rep. 2022.
PMID: 35477737
Free PMC article.
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Are CUL3 variants an underreported cause of congenital heart disease?
Di Francesco D, Swenerton A, Li WL, Dunham C, Hendson G, Boerkoel CF.
Di Francesco D, et al. Among authors: swenerton a.
Am J Med Genet A. 2023 Dec;191(12):2903-2907. doi: 10.1002/ajmg.a.63387. Epub 2023 Sep 4.
Am J Med Genet A. 2023.
PMID: 37665043
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The practice of genomic medicine: A delineation of the process and its governing principles.
Handra J, Elbert A, Gazzaz N, Moller-Hansen A, Hyunh S, Lee HK, Boerkoel P, Alderman E, Anderson E, Clarke L, Hamilton S, Hamman R, Hughes S, Ip S, Langlois S, Lee M, Li L, Mackenzie F, Patel MS, Prentice LM, Sangha K, Sato L, Seath K, Seppelt M, Swenerton A, Warnock L, Zambonin JL, Boerkoel CF, Chin HL, Armstrong L.
Handra J, et al. Among authors: swenerton a.
Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022.
Front Med (Lausanne). 2023.
PMID: 36714130
Free PMC article.
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