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Page 1
Genetics, Meiosis.
Gottlieb SF, Gulani A, Tegay DH. Gottlieb SF, et al. Among authors: tegay dh. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29494069 Free Books & Documents.
Genetics, Nondisjunction.
Gottlieb SF, Tupper C, Kerndt CC, Tegay DH. Gottlieb SF, et al. Among authors: tegay dh. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29489267 Free Books & Documents.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, Weinberger B, Ellington M Jr, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, Caggana M; Duchenne Muscular Dystrophy Pilot Study Group. Tavakoli NP, et al. Among authors: tegay dh. Ann Clin Transl Neurol. 2023 Aug;10(8):1383-1396. doi: 10.1002/acn3.51829. Epub 2023 Jun 23. Ann Clin Transl Neurol. 2023. PMID: 37350320 Free PMC article.
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.
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Ott CE, et al. Among authors: tegay dh. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. Hum Mutat. 2010. PMID: 20648631
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