DuPont BR - Search Results

1

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: dupont br. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.

2

AGTR2 mutations in X-linked mental retardation.

Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. Vervoort VS, et al. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445

3

Prevalence of aneuploidies in South Carolina in the 1990s.

Collins JS, Olson RL, DuPont BR, Wolff DJ, Best RG, Stevenson RE. Collins JS, et al. Among authors: dupont br. Genet Med. 2002 May-Jun;4(3):131-5. doi: 10.1097/00125817-200205000-00006. Genet Med. 2002. PMID: 12180147 Free article.

4

The Hunter-McAlpine syndrome results from duplication 5q35-qter.

Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE. Hunter AG, et al. Clin Genet. 2005 Jan;67(1):53-60. doi: 10.1111/j.1399-0004.2005.00378.x. Clin Genet. 2005. PMID: 15617549

5

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Bedoyan JK, Friez MJ, DuPont B, Ahmad A. Bedoyan JK, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):262-4. doi: 10.1016/j.ejmg.2008.12.001. Epub 2008 Dec 16. Eur J Med Genet. 2009. PMID: 19110080

6

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK. Rodriguez JD, et al. Among authors: dupont br. Am J Med Genet A. 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. Am J Med Genet A. 2010. PMID: 20186809

7

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992

8

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. Armour CM, et al. Among authors: dupont br. Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629300 Free PMC article.

9

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: dupont br. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

10

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: dupont br. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842

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