Torchia BS - Search Results

1

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.

Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, Torchia BS, Ballif BC. Traylor RN, et al. Among authors: torchia bs. Mol Cytogenet. 2009 Aug 7;2:17. doi: 10.1186/1755-8166-2-17. Mol Cytogenet. 2009. PMID: 19664229 Free PMC article.

2

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

Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. Neill NJ, et al. Among authors: torchia bs. Mol Cytogenet. 2010 Jun 29;3:11. doi: 10.1186/1755-8166-3-11. Mol Cytogenet. 2010. PMID: 20587050 Free PMC article.

3

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG. Rosenfeld JA, et al. Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5. Mol Syndromol. 2013. PMID: 23599694 Free PMC article.

4

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: torchia bs. Genet Med. 2009 Nov;11(11):797-805. doi: 10.1097/GIM.0b013e3181bd38a9. Genet Med. 2009. PMID: 19938247 Free article.

5

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: torchia bs. Hum Genet. 2010 Apr;127(4):421-40. doi: 10.1007/s00439-009-0778-7. Hum Genet. 2010. PMID: 20066439

6

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. Traylor RN, et al. Among authors: torchia bs. PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462. PLoS One. 2010. PMID: 20805988 Free PMC article.

7

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. Among authors: torchia bs. Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3. Genet Med. 2010. PMID: 20808228 Free article.

8

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. Rosenfeld JA, et al. Among authors: torchia bs. Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20951845

9

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: torchia bs. 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.

10

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: torchia bs. Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21. Prenat Diagn. 2011. PMID: 21692086

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