Clark D - Search Results

1

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.

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

Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. Liu J, et al. Among authors: clark d. PLoS Biol. 2009 May 5;7(5):e1000119. doi: 10.1371/journal.pbio.1000119. Epub 2009 May 26. PLoS Biol. 2009. PMID: 19468298 Free PMC article.

4

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. Liu J, et al. Among authors: clark d. Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095. Hum Mutat. 2009. PMID: 19701948 Free PMC article.

5

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.

6

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.

Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tatsuro K, Kline AD, Chang C, Vega H, Jackson LG, Spinner NB, Shirahige K, Krantz ID. Liu J, et al. Among authors: clark d. Nucleic Acids Res. 2010 Sep;38(17):5657-71. doi: 10.1093/nar/gkq346. Epub 2010 May 6. Nucleic Acids Res. 2010. PMID: 20448023 Free PMC article.

7

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.

8

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.

9

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.

10

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: clark d. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.

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