Lamb AN - Search Results

1

Chromosomal microarray versus karyotyping for prenatal diagnosis.

Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Wapner RJ, et al. Among authors: lamb an. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. N Engl J Med. 2012. PMID: 23215555 Free PMC article. Clinical Trial.

2

Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.

Lamb AN, Rosenfeld JA, Coppinger J, Dodge ET, Dabell MP, Torchia BS, Ravnan JB, Shaffer LG, Ballif BC. Lamb AN, et al. Genet Med. 2012 Nov;14(11):914-21. doi: 10.1038/gim.2012.77. Epub 2012 Jul 5. Genet Med. 2012. PMID: 22766610 Free article.

3

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.

Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: lamb an. Prenat Diagn. 2009 Dec;29(12):1156-66. doi: 10.1002/pd.2371. Prenat Diagn. 2009. PMID: 19795450

4

The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.

Shaffer LG, Coppinger J, Morton SA, Alliman S, Burleson J, Traylor R, Walker C, Byerly S, Lamb AN, Schultz R, Ravnan JB, Kashork CD, Torchia BS, Sulpizio S, Sundin K, Schermer M, Adler K, Dallaire S, Ballif BC. Shaffer LG, et al. Among authors: lamb an. Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21. Prenat Diagn. 2011. PMID: 21692086

5

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Waggoner D, et al. Among authors: lamb an. Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Genet Med. 2018. PMID: 29915380 Free PMC article. Review.

6

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. Ravnan JB, et al. Among authors: lamb an. J Med Genet. 2006 Jun;43(6):478-89. doi: 10.1136/jmg.2005.036350. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199540 Free PMC article.

7

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, Torchia BS, Rosenfeld JA, Shaffer LG. Neill NJ, et al. Among authors: lamb an. Genome Res. 2011 Apr;21(4):535-44. doi: 10.1101/gr.114579.110. Epub 2011 Mar 7. Genome Res. 2011. PMID: 21383316 Free PMC article.

8

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3. Genet Med. 2010. PMID: 20808228 Free article.

9

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Rosenfeld JA, et al. Among authors: lamb an. Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744490

10

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG. Rosenfeld JA, et al. Am J Med Genet A. 2010 Aug;152A(8):1951-9. doi: 10.1002/ajmg.a.33516. Am J Med Genet A. 2010. PMID: 20635359

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