G
Gail E. Graham
Researcher at Children's Hospital of Eastern Ontario
Publications - 56
Citations - 2287
Gail E. Graham is an academic researcher from Children's Hospital of Eastern Ontario. The author has contributed to research in topics: Genetic testing & Exome sequencing. The author has an hindex of 23, co-authored 49 publications receiving 1960 citations. Previous affiliations of Gail E. Graham include Alberta Children's Hospital & University of Ottawa.
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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.
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High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome
Stefan Aretz,Dietlinde Stienen,Siegfried Uhlhaas,Steffan Loff,Walter Back,Constanze Pagenstecher,D. Ross McLeod,Gail E. Graham,Elisabeth Mangold,René Santer,Peter Propping,Waltraut Friedl +11 more
TL;DR: Screening for point mutations and large deletions by direct sequencing or MLPA increased the mutation detection rate in the STK11 gene up to 94% and it is questionable whether a second PJS locus exists at all.
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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Mark I. Rees,Mark I. Rees,Kirsten Harvey,Brian Pearce,Seo-Kyung Chung,Seo-Kyung Chung,Ian Duguid,Philip Thomas,Sarah Beatty,Gail E. Graham,Linlea Armstrong,Rita Shiang,Kim J. Abbott,Sameer M. Zuberi,John B.P. Stephenson,Michael John Owen,Marina A. J. Tijssen,Arn M. J. M. van den Maagdenberg,Trevor G. Smart,Stéphane Supplisson,Robert J. Harvey +20 more
TL;DR: It is shown that missense, nonsense and frameshift mutations in SLC6A5 (ref. 8), encoding the presynaptic glycine transporter 2 (GlyT2), also cause hyperekplexia.
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Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience
Cecilia Götherström,Magnus Westgren,S. W. Steven Shaw,Eva Åström,Arijit Biswas,Peter H. Byers,Citra Nurfarah Zaini Mattar,Gail E. Graham,Jahan Taslimi,Uwe Ewald,Nicholas M. Fisk,Allen Eng Juh Yeoh,Ju Li Lin,Po-Jen Cheng,Mahesh Choolani,Katarina Le Blanc,Jerry Kok Yen Chan,Jerry Kok Yen Chan +17 more
TL;DR: P prenatal transplantation of allogeneic hfMSCs in OI appears safe and is of likely clinical benefit and that retransplantation with same‐donor cells is feasible, however, the limited experience to date means that it is not possible to be conclusive and that further studies are required.
Journal ArticleDOI
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Sek Mardy,Yuichi Miura,Fumio Endo,Ichiro Matsuda,László Sztriha,Philippe M. Frossard,Allie Moosa,Essam A.R. Ismail,Alfons Macaya,Generoso Andria,Ennio Toscano,William T. Gibson,Gail E. Graham,Yasuhiro Indo +13 more
TL;DR: 11 novel mutations are reported, distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain, that suggest that TRKA defects cause CIPA in various ethnic groups.