Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype
Sawyer, Sarah L, Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A, Innes, A Micheil, Boycott, Kym M, Moreau, Lisa A, Moilanen, Jukka S, Greenberg, Roger A
Published in Cancer discovery (01.02.2015)
Published in Cancer discovery (01.02.2015)
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Journal Article
Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D
Ramagopalan, Sreeram V, Maugeri, Narelle J, Handunnetthi, Lahiru, Lincoln, Matthew R, Orton, Sarah-Michelle, Dyment, David A, Deluca, Gabriele C, Herrera, Blanca M, Chao, Michael J, Sadovnick, A Dessa, Ebers, George C, Knight, Julian C
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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Journal Article
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research
Innes, A. Micheil, McInnes, Brenda L., Dyment, David A.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
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Journal Article
Timing of birth and risk of multiple sclerosis: population based study
Willer, Cristen J, Dyment, David A, Sadovnick, A Dessa, Rothwell, Peter M, Murray, T Jock, Ebers, George C
Published in BMJ (15.01.2005)
Published in BMJ (15.01.2005)
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Journal Article
Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene
Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
Periodic breathing in patients with NALCN mutations
Bourque, Danielle K, Dyment, David A, MacLusky, Ian, Kernohan, Kristin D, McMillan, Hugh J
Published in Journal of human genetics (01.10.2018)
Published in Journal of human genetics (01.10.2018)
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Journal Article
Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility
Lincoln, Matthew R, Ramagopalan, Sreeram V, Chao, Michael J, Herrera, Blanca M, DeLuca, Gabriele C, Orton, Sarah-Michelle, Dyment, David A, Sadovnick, A. Dessa, Ebers, George C
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2009)
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Journal Article
Identification of genes for childhood heritable diseases
Boycott, Kym M, Dyment, David A, Sawyer, Sarah L, Vanstone, Megan R, Beaulieu, Chandree L
Published in Annual review of medicine (01.01.2014)
Published in Annual review of medicine (01.01.2014)
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Journal Article
Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance
Dyment, David A., Herrera, Blanca M., Cader, M. Zameel, Willer, Cristen J., Lincoln, Matthew R., Sadovnick, A. Dessa, Risch, Neil, Ebers, George C.
Published in Human molecular genetics (15.07.2005)
Published in Human molecular genetics (15.07.2005)
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Journal Article
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
Wagner, Justin D, Huang, Lijia, Tetreault, Martine, Majewski, Jacek, Boycott, Kym M, Bulman, Dennis E, Dyment, David A, McMillan, Hugh J
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
The inheritance of resistance alleles in multiple sclerosis
Ramagopalan, Sreeram V, Morris, Andrew P, Dyment, David A, Herrera, Blanca M, DeLuca, Gabriele C, Lincoln, Matthew R, Orton, Sarah M, Chao, Michael J, Sadovnick, A Dessa, Ebers, George C
Published in PLoS genetics (01.09.2007)
Published in PLoS genetics (01.09.2007)
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Journal Article
HLA class I alleles tag HLA-DRB11501 haplotypes for differential risk in multiple sclerosis susceptibility
Chao, Michael J, Barnardo, Martin C.N.M, Lincoln, Matthew R, Ramagopalan, Sreeram V, Herrera, Blanca M, Dyment, David A, Montpetit, Alexandre, Sadovnick, A. Dessa, Knight, Julian C, Ebers, George C
Published in Proceedings of the National Academy of Sciences - PNAS (02.09.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (02.09.2008)
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Journal Article
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Lee, Michelle M., McDowell, Graeme S. V., De Vivo, Darryl C., Friedman, Daniel, Berkovic, Samuel F., Spanou, Maria, Dinopoulos, Argirios, Grand, Katheryn, Sanchez‐Lara, Pedro A., Allen‐Sharpley, Michelle, Warman‐Chardon, Jodi, Solyom, Alexander, Levade, Thierry, Schuchman, Edward H., Bennett, Steffany A. L., Dyment, David A., Pearson, Toni S.
Published in Annals of clinical and translational neurology (01.12.2022)
Published in Annals of clinical and translational neurology (01.12.2022)
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Journal Article
Heterozygous Variants in the DNA‐binding Domain of c‐Myb May Affect Normal B/T Cell Development
Smits, Bas M., Hartley, Taila, Dünnebach, Ester, Bartels, Marije, Boycott, Kim M., Kernohan, Kirstin D., Dyment, David A., Giltay, Jacques C., Haddad, Elie, Jarinova, Olga, Montfrans, Joris, Royen‐Kerkhof, Annet, Veken, Lars T., Witte, Moniek, Nierkens, Stefan, Pham‐Huy, Anne, Leavis, Helen L.
Published in HemaSphere (01.10.2022)
Published in HemaSphere (01.10.2022)
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Journal Article
Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care
Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Published in Molecular genetics & genomic medicine (01.09.2016)
Published in Molecular genetics & genomic medicine (01.09.2016)
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Journal Article
A genome-wide scan of male sexual orientation
Ramagopalan, Sreeram V, Dyment, David A, Handunnetthi, Lahiru, Rice, George P, Ebers, George C
Published in Journal of human genetics (01.02.2010)
Published in Journal of human genetics (01.02.2010)
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Journal Article
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
Boycott, Kym M., Hartley, Taila, Kernohan, Kristin D., Dyment, David A., Howley, Heather, Innes, A. Micheil, Bernier, Francois P., Brudno, Michael
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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