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Page 1
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Wynn J, Tavakoli NP, Armstrong N, Gomez J, Koval C, Lai C, Tang S, Quevedo Prince A, Quevedo Y, Rufino K, Palacio Morales L, Pena A, Grossman S, Monfiletto M, Ruda E, Jimenez V, Verdade L, Jones A, Barriga MG, Karan N, Puma A, Sarker S, Chin S, Duarte K, Tegay DH, Bacchus I, Julooru R, Maloney B, Park S, Saami AM, Cohen L, Shapiro N, Caggana M, Chung WK, Gruber D. Wynn J, et al. Among authors: tegay dh. Int J Neonatal Screen. 2022 Mar 22;8(2):23. doi: 10.3390/ijns8020023. Int J Neonatal Screen. 2022. PMID: 35466194 Free PMC article.
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: tegay dh. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A. Levy B, et al. Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31. Genet Med. 2012. PMID: 22653535 Free article.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. Kuechler A, et al. Among authors: tegay dh. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19. Hum Genet. 2015. PMID: 25326669
Trisomy 2 mosaicism in hypomelanosis of Ito.
Gupta S, Shah S, Mcgaw A, Mercado T, Zaslav AL, Tegay D. Gupta S, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2466-8. doi: 10.1002/ajmg.a.31940. Am J Med Genet A. 2007. PMID: 17853474 No abstract available.
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