Conlin LK - Search Results

1

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Among authors: conlin lk. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.

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

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.

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: 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.

6

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.

7

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

8

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

9

Significant liver disease in a patient with Y116H mutation in the MVK gene.

Leyva-Vega M, Weiss PF, Ganesh J, Conlin L, Spinner NB, Matthews RP. Leyva-Vega M, et al. Am J Med Genet A. 2011 Jun;155A(6):1461-4. doi: 10.1002/ajmg.a.33915. Epub 2011 May 5. Am J Med Genet A. 2011. PMID: 21548022 No abstract available.

10

Mosaic trisomy 17: variable clinical and cytogenetic presentation.

Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Daber R, et al. Among authors: conlin lk. Am J Med Genet A. 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. Am J Med Genet A. 2011. PMID: 21998853 Free PMC article.

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