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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009.
Am J Hum Genet. 2023.
PMID: 37541186
Free PMC article.
Review.
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun P, Fabro M, Galain M, Fernández CS, Taboas M, Bruque CD, Kolomenski JE, Izquierdo A, Berenstein A, Cosentino V, Martinoli C, Vilas M, Rittler M, Mendez R, Furforo L, Liascovich R, Groisman B, Rozental S, Dain L, On Behalf Of The Pid Acm-Cc Group.
Delea M, et al. Among authors: mendez r.
Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172.
Genes (Basel). 2022.
PMID: 35885957
Free PMC article.
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Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, Zaiat J, Biagioli G, Fernandez C, Turjanski A, Campbell AJ, Mercado G, Marti MA.
Mendez R, et al.
Ophthalmic Genet. 2021 Jun;42(3):291-295. doi: 10.1080/13816810.2021.1888129. Epub 2021 Feb 18.
Ophthalmic Genet. 2021.
PMID: 33599182
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A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Mendez R, Delea M, Dain L, Rittler M.
Mendez R, et al.
Clin Dysmorphol. 2020 Jan;29(1):42-45. doi: 10.1097/MCD.0000000000000270.
Clin Dysmorphol. 2020.
PMID: 30921092
No abstract available.
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