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Page 1
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF. Maduro V, et al. Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6. Orphanet J Rare Dis. 2016. PMID: 27179618 Free PMC article.
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. Touchman JW, et al. Among authors: maduro vv. Genome Res. 2000 Feb;10(2):165-73. doi: 10.1101/gr.10.2.165. Genome Res. 2000. PMID: 10673275 Free PMC article.
MED23-associated intellectual disability in a non-consanguineous family.
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. Trehan A, et al. Among authors: maduro v. Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845469 Free PMC article.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: maduro v. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Valkanas E, et al. Among authors: maduro v. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27513830 Free PMC article.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Links AE, Draper D, Lee E, Guzman J, Valivullah Z, Maduro V, Lebedev V, Didenko M, Tomlin G, Brudno M, Girdea M, Dumitriu S, Haendel MA, Mungall CJ, Smedley D, Hochheiser H, Arnold AM, Coessens B, Verhoeven S, Bone W, Adams D, Boerkoel CF, Gahl WA, Sincan M. Links AE, et al. Among authors: maduro v. Front Med (Lausanne). 2016 Oct 12;3:39. doi: 10.3389/fmed.2016.00039. eCollection 2016. Front Med (Lausanne). 2016. PMID: 27785453 Free PMC article.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network; Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. Chao HT, et al. Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017372 Free PMC article.
124 results