Below are the most recent publications written about "Genetic Carrier Screening" by people in Profiles.
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Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Mol Genet Genomic Med. 2021 04; 9(4):e1621.
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Leung ML, McAdoo S, Watson D, Stumm K, Harr M, Wang X, Chung CH, Mafra F, Nesbitt AI, Hakonarson H, Santani A. A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening. J Mol Diagn. 2021 01; 23(1):91-102.
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Crowgey EL, Washburn MC, Kolb EA, Puffenberger EG. Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. J Mol Diagn. 2019 07; 21(4):687-694.
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Mastantuoni E, Saccone G, Al-Kouatly HB, Paternoster M, D'Alessandro P, Arduino B, Carbone L, Esposito G, Raffone A, De Vivo V, Maruotti GM, Berghella V, Zullo F. Expanded carrier screening: A current perspective. Eur J Obstet Gynecol Reprod Biol. 2018 Nov; 230:41-54.
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Shiroff JJ, Gregoski MJ. The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review. Transl Behav Med. 2017 06; 7(2):364-370.
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Franasiak JM, Olcha M, Bergh PA, Hong KH, Werner MD, Forman EJ, Zimmerman RS, Scott RT. Expanded carrier screening in an infertile population: how often is clinical decision making affected? Genet Med. 2016 11; 18(11):1097-1101.
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Shiroff JJ, Nemeth LS. Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods. J Obstet Gynecol Neonatal Nurs. 2015 Nov-Dec; 44(6):717-25.
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Cizmeli C, Lobel M, Franasiak J, Pastore LM. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve. Fertil Steril. 2013 Jun; 99(7):2037-44.e3.
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Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 2011 Feb 01; 76(5):467-74.
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Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA. High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S169-73.