Conlin LK - Search Results

1

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.

Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M. Chen R, et al. Among authors: conlin lk. Hum Mutat. 2022 Dec;43(12):1837-1843. doi: 10.1002/humu.24443. Epub 2022 Aug 2. Hum Mutat. 2022. PMID: 35870179

2

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. DeScipio C, et al. Among authors: conlin lk. Am J Med Genet A. 2008 Mar 15;146A(6):730-9. doi: 10.1002/ajmg.a.32216. Am J Med Genet A. 2008. PMID: 18257100

3

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: conlin lk. Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Hum Mutat. 2009. PMID: 19058200 Free PMC article.

4

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Shaikh TH, et al. Among authors: conlin lk. Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 2009. PMID: 19592680 Free PMC article.

5

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. Conlin LK, et al. Hum Mol Genet. 2010 Apr 1;19(7):1263-75. doi: 10.1093/hmg/ddq003. Epub 2010 Jan 6. Hum Mol Genet. 2010. PMID: 20053666 Free PMC article.

6

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: conlin lk. 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.

7

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.

Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. Crowley MA, et al. Among authors: conlin lk. Am J Med Genet A. 2010 May;152A(5):1326-7. doi: 10.1002/ajmg.a.33375. Am J Med Genet A. 2010. PMID: 20425846 No abstract available.

8

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: conlin lk. 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.

9

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

Sampson MG, Coughlin CR 2nd, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Sampson MG, et al. Among authors: conlin lk. Am J Med Genet A. 2010 Oct;152A(10):2618-22. doi: 10.1002/ajmg.a.33628. Am J Med Genet A. 2010. PMID: 20799338

10

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB. Conlin LK, et al. J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972251

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