Jay W Ellison

Summary

Affiliation: PerkinElmer Life and Analytical Sciences

Publications

  1. doi Genetic basis of intellectual disability
    Jay W Ellison
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
    Annu Rev Med 64:441-50. 2013
  2. doi Clinical utility of chromosomal microarray analysis
    Jay W Ellison
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
    Pediatrics 130:e1085-95. 2012
  3. pmc Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Prenat Diagn 32:976-85. 2012
  4. doi Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
    Andrey Shuvarikov
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington
    Hum Mutat 34:1415-23. 2013
  5. doi Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens
    Jill A Rosenfeld
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Wash, USA
    Fetal Diagn Ther 36:231-41. 2014
  6. doi Investigation of NRXN1 deletions: clinical and molecular characterization
    Mindy Preston Dabell
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Am J Med Genet A 161:717-31. 2013
  7. pmc Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
    Prenat Diagn 32:986-95. 2012
  8. doi Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases
    Jill A Rosenfeld
    Signature Genomic Laboratories, PerkinElmer, Inc, 2820 N Astor St, Spokane, WA 99207, USA
    Neurogenetics 13:31-47. 2012

Collaborators

  • Lisa G Shaffer
  • Marc S Williams
  • Anna Gambin
  • Patricia G Wheeler
  • Yves Lacassie
  • Lisa D McDaniel
  • Luis F Escobar
  • Frederick Andermann
  • Blake C Ballif
  • Cathy A Stevens
  • Trilochan Sahoo
  • Judith H Miles
  • Alex R Paciorkowski
  • Elizabeth Miller
  • Philip R Wyatt
  • Jill A Rosenfeld
  • J Britt Ravnan
  • Mark C Hannibal
  • Andrey Shuvarikov
  • Nicholas J Neill
  • Mindy Preston Dabell
  • Allen N Lamb
  • Cynthia Curry
  • Jamie Fisher
  • Beth S Torchia
  • Cathryn Hummel
  • S Anne Morton
  • Scott G Sulpizio
  • Roger A Schultz
  • Allan J Fisher
  • Michael F Murray
  • Stephanie E Wallace
  • Deborah Terespolsky
  • Kristin Herman
  • Sandra A Farrell
  • Ian M Campbell
  • Mary Beth Palko Dinulos
  • Linda M Randolph
  • Kiana Siefkas
  • Sandi Sodhi
  • David Viskochil
  • Pedro A Sanchez-Lara
  • Ankita Patel
  • Monica A Giovanni
  • Manikum Moodley
  • Lauren Hughes
  • Sara Ellingwood
  • Cheri Schoonveld
  • David Skidmore
  • Rosemarie Smith
  • Matteo Cassina
  • Christine Moore
  • Chester W Brown
  • Billur Moghaddam
  • Tracy Stroud
  • Dmitriy Niyazov
  • Sau Wai Cheung
  • Stephanie E Vallee
  • Christine R Beck
  • Sara Mackay
  • RAYMOND TERVO
  • Adam Huillet
  • Patricia Bader
  • PaweĊ‚ Stankiewicz
  • Martin G Bialer
  • Dima El-Khechen
  • Piotr Dittwald
  • Dina Amrom
  • Sheila Upton
  • Stephen Deputy
  • Abby Stevens
  • Cynthia M Powell
  • Melissa Maisenbacher
  • Melanie Babcock
  • Elaine Maria Pereira
  • Bernice Morrow
  • Eva Andermann
  • Wilfredo Torres-Martinez
  • Bryce Heese
  • John Moeschler
  • Martin Veilleux
  • Arthur S Aylsworth
  • Kandamurugu Manickam
  • Robert Marion

Detail Information

Publications8

  1. doi Genetic basis of intellectual disability
    Jay W Ellison
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
    Annu Rev Med 64:441-50. 2013
    ..Clinical diagnostic application of these new findings is already well under way, despite incomplete understanding of non-Mendelian transmission patterns that are sometimes observed...
  2. doi Clinical utility of chromosomal microarray analysis
    Jay W Ellison
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
    Pediatrics 130:e1085-95. 2012
    ..To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results...
  3. pmc Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Prenat Diagn 32:976-85. 2012
    ..To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience...
  4. doi Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
    Andrey Shuvarikov
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington
    Hum Mutat 34:1415-23. 2013
    ..Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease...
  5. doi Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens
    Jill A Rosenfeld
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Wash, USA
    Fetal Diagn Ther 36:231-41. 2014
    ..While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of variants of uncertain significance (VOUS)...
  6. doi Investigation of NRXN1 deletions: clinical and molecular characterization
    Mindy Preston Dabell
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Am J Med Genet A 161:717-31. 2013
    ..Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1...
  7. pmc Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
    Prenat Diagn 32:986-95. 2012
    ..The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings...
  8. doi Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases
    Jill A Rosenfeld
    Signature Genomic Laboratories, PerkinElmer, Inc, 2820 N Astor St, Spokane, WA 99207, USA
    Neurogenetics 13:31-47. 2012
    ..Although the phenotypes associated with 6q deletions can vary, using overlapping deletions to delineate critical regions improves genotype-phenotype correlation for interstitial 6q deletions...