Publications by authors named "Beth Torchia"

35Publications

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

Authors:
Bradley P Coe Kali Witherspoon Jill A Rosenfeld Bregje W M van Bon Anneke T Vulto-van Silfhout Paolo Bosco Kathryn L Friend Carl Baker Serafino Buono Lisenka E L M Vissers Janneke H Schuurs-Hoeijmakers Alex Hoischen Rolph Pfundt Nik Krumm Gemma L Carvill Deana Li David Amaral Natasha Brown Paul J Lockhart Ingrid E Scheffer Antonino Alberti Marie Shaw Rosa Pettinato Raymond Tervo Nicole de Leeuw Margot R F Reijnders Beth S Torchia Hilde Peeters Brian J O'Roak Marco Fichera Jayne Y Hehir-Kwa Jay Shendure Heather C Mefford Eric Haan Jozef Gécz Bert B A de Vries Corrado Romano Evan E Eichler

Nat Genet 2014 10 14;46(10):1063-71. Epub 2014 Sep 14.

1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, Seattle, Washington, USA.

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October 2014

Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.

Authors:
Jill A Rosenfeld S Anne Morton Cathryn Hummel Scott G Sulpizio Lisa D McDaniel Roger A Schultz Beth S Torchia J Britt Ravnan Jay W Ellison Allan J Fisher

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

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Wash., USA.

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June 2015

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

Authors:
Shimul Chowdhury Anne M Bandholz Sandhya Parkash Sarah Dyack Andrea L Rideout Kathleen A Leppig Heidi Thiese Patricia G Wheeler Marilyn Tsang Blake C Ballif Lisa G Shaffer Beth S Torchia Jay W Ellison Jill A Rosenfeld

Am J Med Genet A 2014 Jan 15;164A(1):62-9. Epub 2013 Nov 15.

Providence Sacred Heart Medical Center, Molecular Diagnostics, Spokane, Washington.

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January 2014

Clinical utility of chromosomal microarray analysis.

Authors:
Jay W Ellison J Britt Ravnan Jill A Rosenfeld S Annie Morton Nicholas J Neill Marc S Williams Jodi Lewis Beth S Torchia Cathryn Walker Ryan N Traylor Kimberly Moles Elizabeth Miller Jennifer Lantz Caitlin Valentin Sara L Minier Kimberly Leiser Berkley R Powell Timothy M Wilks Lisa G Shaffer

Pediatrics 2012 Nov 15;130(5):e1085-95. Epub 2012 Oct 15.

Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA.

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November 2012

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

Authors:
Lisa G Shaffer Mindy P Dabell Allan J Fisher Justine Coppinger Anne M Bandholz Jay W Ellison J Britt Ravnan Beth S Torchia Blake C Ballif Jill A Rosenfeld

Prenat Diagn 2012 Oct 2;32(10):976-85. Epub 2012 Aug 2.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.

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October 2012

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

Authors:
Lisa G Shaffer Jill A Rosenfeld Mindy P Dabell Justine Coppinger Anne M Bandholz Jay W Ellison J Britt Ravnan Beth S Torchia Blake C Ballif Allan J Fisher

Prenat Diagn 2012 Oct 30;32(10):986-95. Epub 2012 Jul 30.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

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October 2012

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

Authors:
Allen N Lamb Jill A Rosenfeld Justine Coppinger Erin T Dodge Mindy Preston Dabell Beth S Torchia J Britt Ravnan Lisa G Shaffer Blake C Ballif

Genet Med 2012 Nov 5;14(11):914-21. Epub 2012 Jul 5.

1] Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

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November 2012

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

Authors:
David Dufresne Fadi F Hamdan Jill A Rosenfeld Beth Torchia Bernard Rosenblatt Jacques L Michaud Myriam Srour

J Med Genet 2012 Jul 22;49(7):451-4. Epub 2012 Jun 22.

Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.

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July 2012

Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.

Authors:
Heidi L Thorson Urvashi Surti Malini Sathanoori Sally J Kochmar Beth Torchia Aleksandar Rajkovic

Fetal Diagn Ther 2012 13;31(3):196-200. Epub 2012 Mar 13.

Abbott Northwestern Hospital, Minneapolis, Minn., USA.

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August 2012

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

Authors:
Kimberly J Moles Gordon C Gowans Satyanarayana Gedela David Beversdorf Arthur Yu Laurie H Seaver Roger A Schultz Jill A Rosenfeld Beth S Torchia Lisa G Shaffer

Genet Med 2012 May 12;14(5):508-14. Epub 2012 Jan 12.

Signature Genomic Laboratories, PerkinElmer Inc., Spokane, Washington, USA.

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May 2012

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

Authors:
Trilochan Sahoo Aaron Theisen Michael Marble Raymond Tervo Jill A Rosenfeld Beth S Torchia Lisa G Shaffer

Am J Med Genet A 2011 Dec 7;155A(12):3110-5. Epub 2011 Nov 7.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

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December 2011

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.

Authors:
Blake C Ballif Jill A Rosenfeld Ryan Traylor Aaron Theisen Patricia I Bader Roger L Ladda Susan L Sell Michelle Steinraths Urvashi Surti Marianne McGuire Shelley Williams Sandra A Farrell James Filiano Rhonda E Schnur Lauren B Coffey Raymond C Tervo Tracy Stroud Michael Marble Michael Netzloff Kristen Hanson Arthur S Aylsworth J S Bamforth Deepti Babu Dmitriy M Niyazov J Britt Ravnan Roger A Schultz Allen N Lamb Beth S Torchia Bassem A Bejjani Lisa G Shaffer

Hum Genet 2012 Jan 29;131(1):145-56. Epub 2011 Jul 29.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

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January 2012

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

Authors:
Trilochan Sahoo Aaron Theisen Jill A Rosenfeld Allen N Lamb J Britt Ravnan Roger A Schultz Beth S Torchia Nicholas Neill Ian Casci Bassem A Bejjani Lisa G Shaffer

Genet Med 2011 Oct;13(10):868-80

Signature Genomic Laboratories, 2820 N. Astor St., Spokane, WA 99207, USA.

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October 2011

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

Authors:
Lisa G Shaffer Justine Coppinger S Annie Morton Sarah Alliman Jessica Burleson Ryan Traylor Cathryn Walker Steve Byerly Allen N Lamb Roger Schultz J Britt Ravnan Catherine D Kashork Beth S Torchia Scott Sulpizio Kyle Sundin Mack Schermer Karl Adler Stephanie Dallaire Blake C Ballif

Prenat Diagn 2011 Aug 21;31(8):778-87. Epub 2011 Jun 21.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

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August 2011

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

Authors:
Trilochan Sahoo Aaron Theisen Pedro A Sanchez-Lara Michael Marble Daniela N Schweitzer Beth S Torchia Allen N Lamb Bassem A Bejjani Lisa G Shaffer Yves Lacassie

Am J Med Genet A 2011 Jul 10;155A(7):1646-53. Epub 2011 Jun 10.

Signature Genomics, Spokane, Washington, USA.

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July 2011

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

Authors:
Nicholas J Neill Blake C Ballif Allen N Lamb Sumit Parikh J Britt Ravnan Roger A Schultz Beth S Torchia Jill A Rosenfeld Lisa G Shaffer

Genome Res 2011 Apr 7;21(4):535-44. Epub 2011 Mar 7.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

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April 2011

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.

Authors:
Jill A Rosenfeld Lindsey E Stephens Justine Coppinger Blake C Ballif Joe J Hoo Beatrice N French Valerie C Banks Wendy E Smith David Manchester Anne Chun-Hui Tsai Katrina Merrion Roberto Mendoza-Londono Lucie Dupuis Roger Schultz Beth Torchia Trilochan Sahoo Bassem Bejjani David D Weaver Lisa G Shaffer

Eur J Hum Genet 2011 May 19;19(5):547-54. Epub 2011 Jan 19.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

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May 2011

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

Authors:
Jill A Rosenfeld Yves Lacassie Dima El-Khechen Luis F Escobar James Reggin Carolyn Heuer Emily Chen Lauren S Jenkins A Thomas Collins Samuel Zinner Melanie Babcock Bernice Morrow Roger A Schultz Beth S Torchia Blake C Ballif Karen D Tsuchiya Lisa G Shaffer

Eur J Med Genet 2011 Jan-Feb;54(1):42-9. Epub 2010 Oct 15.

Signature Genomic Laboratories, 2820 N. Astor St., Spokane, WA 99207, USA.

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June 2011

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

Authors:
Jill A Rosenfeld Blake C Ballif Beth S Torchia Trilochan Sahoo J Britt Ravnan Roger Schultz Allen Lamb Bassem A Bejjani Lisa G Shaffer

Genet Med 2010 Nov;12(11):694-702

Signature Genomic Laboratories, Spokane, Washington 99207, USA.

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November 2010

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

Authors:
Ryan N Traylor Damien L Bruno Trent Burgess Robert Wildin Anne Spencer Devika Ganesamoorthy David J Amor Matthew Hunter Michael Caplan Jill A Rosenfeld Aaron Theisen Beth S Torchia Lisa G Shaffer Blake C Ballif Howard R Slater

PLoS One 2010 Aug 27;5(8):e12462. Epub 2010 Aug 27.

Signature Genomic Laboratories, Spokane, Washington, United States of America.

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August 2010