Clark D - Search Results

1

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID. DeScipio C, et al. Among authors: clark d. Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847950 Free PMC article.

2

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. Kamath BM, et al. Among authors: clark d. Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Hum Mutat. 2009. PMID: 19058200 Free PMC article.

3

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Among authors: clark d. Am J Med Genet A. 2010 Feb;152A(2):373-82. doi: 10.1002/ajmg.a.33219. Am J Med Genet A. 2010. PMID: 20101690 Free PMC article.

4

Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Among authors: clark d. Am J Med Genet A. 2010 Jun;152A(6):1599. doi: 10.1002/ajmg.a.33390. Am J Med Genet A. 2010. PMID: 20503345 No abstract available.

5

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. Rohatgi S, et al. Among authors: clark d. Am J Med Genet A. 2010 Jul;152A(7):1641-53. doi: 10.1002/ajmg.a.33441. Am J Med Genet A. 2010. PMID: 20583156 Free PMC article.

6

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Lambert MP, Jackson LG, Clark D, Kaur M, Krantz ID, Deardorff MA. Lambert MP, et al. Among authors: clark d. Am J Med Genet A. 2011 Jan;155A(1):33-7. doi: 10.1002/ajmg.a.33631. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204208 Free PMC article.

7

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. Schrier SA, et al. Among authors: clark d. Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8. Am J Med Genet A. 2011. PMID: 22069164 Free PMC article. Review.

8

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Francey LJ, et al. Among authors: clark d. Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6. Am J Med Genet A. 2012. PMID: 22147502 Free PMC article.

9

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. Slavin TP, et al. Among authors: clark dm. Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.

10

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. Nakanishi M, et al. Among authors: clark d. Am J Med Genet A. 2012 Aug;158A(8):1841-7. doi: 10.1002/ajmg.a.34014. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740374 Free PMC article.

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