M
Michael T. Geraghty
Researcher at Children's Hospital of Eastern Ontario
Publications - 57
Citations - 4524
Michael T. Geraghty is an academic researcher from Children's Hospital of Eastern Ontario. The author has contributed to research in topics: Gene & Peroxisome. The author has an hindex of 35, co-authored 53 publications receiving 4155 citations. Previous affiliations of Michael T. Geraghty include Boston Children's Hospital & Johns Hopkins University School of Medicine.
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Journal ArticleDOI
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Deborah J. Marsh,Deborah J. Marsh,Jennifer B. Kum,Jennifer B. Kum,Kathryn L. Lunetta,Michael J. Bennett,Robert J. Gorlin,S Faisal Ahmed,Joann Bodurtha,Carol A. Crowe,Mary Curtis,Majed Dasouki,Teresa M. Dunn,Howard Feit,Michael T. Geraghty,John M. Graham,Shirley Hodgson,Alasdair G. W. Hunter,Bruce R. Korf,David K. Manchester,Susan Miesfeldt,Victoria Murday,Katherine L. Nathanson,Melissa A. Parisi,Barbara R. Pober,Corrado Romano,John Tolmie,Richard C. Trembath,Robin M. Winter,Elaine H. Zackai,Roberto T. Zori,Liang Ping Weng,Liang Ping Weng,Patricia L. M. Dahia,Patricia L. M. Dahia,Charis Eng,Charis Eng +36 more
TL;DR: Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.
Journal ArticleDOI
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A. Tischfield,Hagit N. Baris,Chen Wu,G. Rudolph,Lionel Van Maldergem,Wei He,Wai-Man Chan,Caroline Andrews,Joseph L. Demer,Richard L. Robertson,David A. Mackey,David A. Mackey,Jonathan B Ruddle,Thomas D. Bird,Irene Gottlob,Christina Pieh,Elias I. Traboulsi,Scott L. Pomeroy,David G. Hunter,Janet S. Soul,Janet S. Soul,Anna Newlin,Louise J. Sabol,Edward J. Doherty,Clara E. de Uzcategui,Nicolas Uzcategui,Mary Louise Z. Collins,Emin Cumhur Sener,Bettina Wabbels,Heide Hellebrand,Thomas Meitinger,Teresa de Berardinis,Adriano Magli,Costantino Schiavi,Marco Pastore-Trossello,Feray Koc,Agnes M. F. Wong,Alex V. Levin,Michael T. Geraghty,Maria Descartes,Maree Flaherty,Robyn V. Jamieson,Robyn V. Jamieson,Hans Ulrik Møller,Ingo Meuthen,David F. Callen,Janet Kerwin,Susan Lindsay,Alfons Meindl,Mohan L. Gupta,David Pellman,Elizabeth C. Engle +51 more
TL;DR: It is demonstrated that normal TUBB3 is required for axon guidance and maintenance in mammals and it is shown that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules.
Journal ArticleDOI
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
Journal ArticleDOI
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.
Peter C. Rowe,Diana F. Barron,Hugh Calkins,Irene H. Maumenee,Patrick Tong,Michael T. Geraghty +5 more
TL;DR: It is proposed that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures, which leads to increased venous pooling and its hemodynamic and symptomatic consequences.
Journal ArticleDOI
Phenylketonuria in adulthood: a collaborative study.
Richard Koch,Barbara K. Burton,George E. Hoganson,R. Peterson,William J. Rhead,Bobbye Rouse,R. Scott,Jon A. Wolff,A. M. Stern,F. Guttler,Marvin D. Nelson,F. de la Cruz,J. Coldwell,Richard W. Erbe,Michael T. Geraghty,C. Shear,J. Thomas,C. Azen +17 more
TL;DR: The medical evaluations revealed that the subjects who maintained a phenylalanine-restricted diet reported fewer problems than the diet discontinuers, who had an increased rate of eczema, asthma, mental disorders, headache, hyperactivity and hypoactivity.