International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

por Boycott, Kym M, Lau, Lilian PL, Cutillo, Christine M, Austin, Christopher P
Publicado 2019

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

por Ferreira, Patrick, Luco, Stephanie M., Sawyer, Sarah L., Davila, Jorge, Boycott, Kym M., Dyment, David A.
Publicado 2015

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

por Hayeems, Robin Z, Bernier, Francois, Boycott, Kym M, Hartley, Taila, Michaels-Igbokwe, Christine, Marshall, Deborah A
Publicado 2022

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

por Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Publicado 2016

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report

por Marshall, Aren E., MacDonald, Stella K., Liang, Yijing, Couse, Madeline, Boycott, Kym M., Richer, Julie, Kernohan, Kristin D.
Publicado 2023

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

por Gillespie, Meredith K., McMillan, Hugh J., Kernohan, Kristin D., Pena, Izabella A., Meyer-Schuman, Rebecca, Antonellis, Anthony, Boycott, Kym M.
Publicado 2019

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

por McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M
Publicado 2014

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

por Kleiderman, Erika, Knoppers, Bartha Maria, Fernandez, Conrad V, Boycott, Kym M, Ouellette, Gail, Wong-Rieger, Durhane, Adam, Shelin, Richer, Julie, Avard, Denise
Publicado 2014

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

por Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim
Publicado 2016

The defining DNA methylation signature of Floating-Harbor Syndrome

por Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim
Publicado 2016

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

por Bourque, Pierre R., Warman-Chardon, Jodi, Lelli, Daniel A., LaBerge, Lauren, Kirshen, Carly, Bradshaw, Scott H., Hartley, Taila, Boycott, Kym M.
Publicado 2018

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

por Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Publicado 2018

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

por Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Publicado 2016

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

por Weiman, Daniel I., Gillespie, Meredith K., Hartley, Taila, Osmond, Matthew, Ito, Yoko, Boycott, Kym M., Kernohan, Kristin D., Lines, Matthew, McMillan, Hugh J.
Publicado 2021

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

por McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T
Publicado 2014

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabi...

por Kernohan, Kristin D., Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T., Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M.
Publicado 2015

‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

por Lochmüller, Hanns, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian PL, Baynam, Gareth, Kaufmann, Petra, Lasko, Paul, Dawkins, Hugh JS, Austin, Christopher P, Boycott, Kym M
Publicado 2017

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

por Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E., Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M., Campeau, Philippe M., Bellen, Hugo J.
Publicado 2017

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Publicado 2012

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

por Baskin, Berivan, Stavropoulos, Dimitri J, Rebeiro, Paige A, Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R, Lemire, Edmond G, Boycott, Kym M, Gibson, William, Ray, Peter N
Publicado 2014