D
David Chitayat
Researcher at University of Toronto
Publications - 508
Citations - 25972
David Chitayat is an academic researcher from University of Toronto. The author has contributed to research in topics: Prenatal diagnosis & Pregnancy. The author has an hindex of 76, co-authored 485 publications receiving 22927 citations. Previous affiliations of David Chitayat include University of British Columbia & Hydro One.
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Journal ArticleDOI
Structural variation of chromosomes in autism spectrum disorder.
Christian R. Marshall,Abdul Noor,John B. Vincent,Anath C. Lionel,Lars Feuk,Jennifer Skaug,Mary Shago,Rainald Moessner,Dalila Pinto,Yan Ren,Bhooma Thiruvahindrapduram,Andreas Fiebig,Stefan Schreiber,Jan M. Friedman,Cees E.J. Ketelaars,Yvonne J. Vos,Can Ficicioglu,Susan J. Kirkpatrick,Rob Nicolson,Leon Sloman,Anne Summers,Clare A. Gibbons,Ahmad S. Teebi,David Chitayat,Rosanna Weksberg,Ann Thompson,Cathy Vardy,Vicki Crosbie,Sandra Luscombe,Rebecca Baatjes,Lonnie Zwaigenbaum,Wendy Roberts,Bridget A. Fernandez,Peter Szatmari,Stephen W. Scherer +34 more
TL;DR: The results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J. Crow,Yanick J. Crow,Andrea Leitch,Bruce E. Hayward,Anna Garner,Rekha Parmar,Elen Griffith,Manir Ali,Colin A. Semple,Jean Aicardi,Riyana Babul-Hirji,Clarisse Baumann,Peter Baxter,Enrico Bertini,Kate Chandler,David Chitayat,Daniel Cau,Catherine Dery,Elisa Fazzi,Cyril Goizet,Mary D. King,Joerg Klepper,Didier Lacombe,Giovanni Lanzi,Hermione Lyall,María Luisa Martínez-Frías,Michèle Mathieu,Carole McKeown,Anne Monier,Yvette Oade,Oliver Quarrell,Christopher D. Rittey,R. Curtis Rogers,Amparo Sanchis,John B.P. Stephenson,Uta Tacke,Marianne Till,John Tolmie,Pam Tomlin,Thomas Voit,Bernhard Weschke,C. Geoffrey Woods,Pierre Lebon,David T. Bonthron,Chris P. Ponting,Andrew P. Jackson +45 more
TL;DR: It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.
Journal ArticleDOI
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.
TL;DR: This case shows that polymorphism of CYP2D6 can be life threatening for some breastfed babies and avoidance of codeine use during breastfeeding, with its use being retained as second or third line for uncontrolled pain, could also avert this situation.
Journal ArticleDOI
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.
Diane J. Allingham-Hawkins,Riyana Babul-Hirji,David Chitayat,Jeanette J. A. Holden,Kathy T Yang,Chingmuh Lee,R Hudson,H Gorwill,Sarah L. Nolin,Anne Glicksman,Edmund C. Jenkins,W. Ted Brown,Patricia N. Howard-Peebles,Cindy Becchi,Emilie Cummings,Lee Fallon,Suzanne Seitz,Susan H. Black,Angela Maria Vianna-Morgante,Silvia S. Costa,Paulo Alberto Otto,Regina Célia Mingroni-Netto,Anna Murray,J Webb,F MacSwinney,N Dennis,Patricia A. Jacobs,Maria Syrrou,Ioannis Georgiou,Phillipos C Patsalis,Maria L Giovannucci Uzielli,Silvia Guarducci,Elisabetta Lapi,A. Cecconi,Ugo Ricci,G. Ricotti,C. Biondi,B. Scarselli,F. Vieri +38 more
TL;DR: There is a significant association between fragile X premutation carrier status and premature menopause in fragile X carriers, according to preliminary data.