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Results: 1 to 20 of 33

1.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, G├ęcz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PMID:
25217958
[PubMed - in process]
2.

Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens.

Rosenfeld JA, Morton SA, Hummel C, Sulpizio SG, McDaniel LD, Schultz RA, Torchia BS, Ravnan JB, Ellison JW, Fisher AJ.

Fetal Diagn Ther. 2014;36(3):231-41. doi: 10.1159/000360081. Epub 2014 Aug 8.

PMID:
25115231
[PubMed - in process]
3.

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.

Am J Med Genet A. 2014 Jan;164A(1):62-9. doi: 10.1002/ajmg.a.36201. Epub 2013 Nov 15.

PMID:
24243649
[PubMed - in process]
4.

Clinical utility of chromosomal microarray analysis.

Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, Lewis J, Torchia BS, Walker C, Traylor RN, Moles K, Miller E, Lantz J, Valentin C, Minier SL, Leiser K, Powell BR, Wilks TM, Shaffer LG.

Pediatrics. 2012 Nov;130(5):e1085-95. doi: 10.1542/peds.2012-0568. Epub 2012 Oct 15.

PMID:
23071206
[PubMed - indexed for MEDLINE]
Free Article
5.

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Shaffer LG, Dabell MP, Fisher AJ, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Rosenfeld JA.

Prenat Diagn. 2012 Oct;32(10):976-85. doi: 10.1002/pd.3945. Epub 2012 Aug 2.

PMID:
22865506
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ.

Prenat Diagn. 2012 Oct;32(10):986-95. doi: 10.1002/pd.3943. Epub 2012 Jul 30.

PMID:
22847778
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

Genet Med. 2012 Nov;14(11):914-21. doi: 10.1038/gim.2012.77. Epub 2012 Jul 5.

PMID:
22766610
[PubMed - indexed for MEDLINE]
8.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

PMID:
22317977
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.

Moles KJ, Gowans GC, Gedela S, Beversdorf D, Yu A, Seaver LH, Schultz RA, Rosenfeld JA, Torchia BS, Shaffer LG.

Genet Med. 2012 May;14(5):508-14. doi: 10.1038/gim.2011.46. Epub 2012 Jan 12.

PMID:
22241097
[PubMed - indexed for MEDLINE]
10.

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG.

Am J Med Genet A. 2011 Dec;155A(12):3110-5. doi: 10.1002/ajmg.a.34345. Epub 2011 Nov 7.

PMID:
22065534
[PubMed - indexed for MEDLINE]
11.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
[PubMed - indexed for MEDLINE]
12.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059
[PubMed - indexed for MEDLINE]
13.

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.

Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21.

PMID:
21692086
[PubMed - indexed for MEDLINE]
14.

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y.

Am J Med Genet A. 2011 Jul;155A(7):1646-53. doi: 10.1002/ajmg.a.34063. Epub 2011 Jun 10.

PMID:
21671386
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

Genome Res. 2011 Apr;21(4):535-44. doi: 10.1101/gr.114579.110. Epub 2011 Mar 7.

PMID:
21383316
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

PMID:
20951845
[PubMed - indexed for MEDLINE]
17.

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.

Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3.

PMID:
20808228
[PubMed - indexed for MEDLINE]
18.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR.

PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462.

PMID:
20805988
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.

Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.

Mol Cytogenet. 2010 Jun 29;3:11. doi: 10.1186/1755-8166-3-11.

PMID:
20587050
[PubMed]
Free PMC Article
20.

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.

Alliman S, Coppinger J, Marcadier J, Thiese H, Brock P, Shafer S, Weaver C, Asamoah A, Leppig K, Dyack S, Morash B, Schultz R, Torchia BS, Lamb AN, Bejjani BA.

Clin Genet. 2010 Aug;78(2):162-8. doi: 10.1111/j.1399-0004.2010.01373.x. Epub 2010 Feb 9.

PMID:
20345475
[PubMed - indexed for MEDLINE]

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