J
Jay W. Ellison
Researcher at Mayo Clinic
Publications - 24
Citations - 1088
Jay W. Ellison is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Comparative genomic hybridization & Gene Symbol. The author has an hindex of 12, co-authored 24 publications receiving 997 citations. Previous affiliations of Jay W. Ellison include PerkinElmer.
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Journal ArticleDOI
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Barbara Pasini,Sarah R. McWhinney,Thalia Bei,Ludmila Matyakhina,Sotirios Stergiopoulos,Michael Muchow,Sosipatros Boikos,Barbara Ferrando,Karel Pacak,Guillaume Assié,Guillaume Assié,Eric Baudin,Agnès Chompret,Jay W. Ellison,Jean Jacques Briere,Jean Jacques Briere,Pierre Rustin,Pierre Rustin,Anne Paule Gimenez-Roqueplo,Anne Paule Gimenez-Roqueplo,Charis Eng,Charis Eng,J. Aidan Carney,Constantine A. Stratakis +23 more
TL;DR: It is concluded that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for Gists that may not respond to STI571 and its analogs.
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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
Lisa G. Shaffer,Mindy Preston Dabell,Allan J. Fisher,Justine Coppinger,Anne M. Bandholz,Jay W. Ellison,J. Britt Ravnan,Beth S. Torchia,Blake C. Ballif,Jill A. Rosenfeld +9 more
TL;DR: To demonstrate the usefulness of microarray testing in prenatal diagnosis based on the laboratory experience, a large number of women with high-risk pregnancies have had microarray tests performed in the womb.
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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
Lisa G. Shaffer,Aaron Theisen,Bassem A. Bejjani,Bassem A. Bejjani,Blake C. Ballif,Arthur S. Aylsworth,Cynthia Lim,Marie T. McDonald,Jay W. Ellison,Dana Kostiner,Sulagna C. Saitta,Tamim H. Shaikh +11 more
TL;DR: This new microdeletion syndrome with its variable clinical presentation may be responsible for a proportion of Fryns syndrome patients and adds to the increasing number of new syndromes identified with array-based comparative genomic hybridization.
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Genotype-phenotype correlation in interstitial 6q deletions: A report of 12 new cases
Jill A. Rosenfeld,Dina Amrom,Dina Amrom,Eva Andermann,Eva Andermann,Frederick Andermann,Frederick Andermann,Martin Veilleux,Martin Veilleux,Cynthia J. Curry,Jamie Fisher,Arthur S. Aylsworth,Cynthia M. Powell,Kandamurugu Manickam,Kandamurugu Manickam,Bryce A. Heese,Bryce A. Heese,Melissa K. Maisenbacher,Cathy A. Stevens,Jay W. Ellison,Jay W. Ellison,Sheila J. Upton,John B. Moeschler,Wilfredo Torres-Martinez,Abby K. Stevens,Robert W. Marion,Elaine Pereira,Melanie Babcock,Bernice E. Morrow,Trilochan Sahoo,Trilochan Sahoo,Allen N. Lamb,Allen N. Lamb,Blake C. Ballif,Alex R. Paciorkowski,Lisa G. Shaffer +35 more
TL;DR: Using overlapping deletions to delineate critical regions improves genotype–phenotype correlation for interstitial 6q deletions, as well as identifying genes involved in neural development and movement disorders.
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Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Salman Kirmani,Peter J. Tebben,Aida N. Lteif,David Gordon,Bart L. Clarke,Theresa E. Hefferan,Michael J. Yaszemski,Pamela S. McGrann,Noralane M. Lindor,Jay W. Ellison +9 more
TL;DR: Osteopenia or osteoporosis may become increasingly important issues as earlier detection and treatment of the vascular complications of LDS improves life expectancy in these patients.