Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms

Por Hieter, Philip, Boycott, Kym M.
Publicado em 2014

The future is now for rare genetic diseases

Por MacKenzie, Alex, Boycott, Kym M.
Publicado em 2012

Genome-wide sequencing technologies: A primer for paediatricians

Por Hayeems, Robin Z, Boycott, Kym M
Publicado no Paediatr Child Health (2018)

“Devolution” of bipedality

Por Herz, Joachim, Boycott, Kym M., Parboosingh, Jillian S.
Publicado em 2008

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 no EMBO Mol Med (2019)

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

Por McDonell, Laura M., Kernohan, Kristin D., Boycott, Kym M., Sawyer, Sarah L.
Publicado no Hum Mol Genet (2015)

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

Por Carter, Melissa T, Pierre, Stephanie A St., Zackai, Elaine H, Emanuel, Beverly S, Boycott, Kym M
Publicado em 2009

RISK OF BREAST CANCER NOT INCREASED IN TRANSLOCATION 11;22 CARRIERS: ANALYSIS OF 80 PEDIGREES

Por Carter, Melissa T, Barrowman, Nicholas J, St. Pierre, Stephanie A, Emanuel, Beverly S, Boycott, Kym M
Publicado em 2010

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 no Neurol Genet (2015)

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

Por Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M
Publicado no Eur J Hum Genet (2015)

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

Por Boycott, Kym M, Bonnemann, Carsten, Herz, Joachim, Neuert, Stephanie, Beaulieu, Chandree, Scott, James N, Venkatasubramanian, Anuradha, Parboosingh, Jillian S
Publicado em 2009

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 no Mol Genet Genomic Med (2016)

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 no J Neuromuscul Dis (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 em 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 em 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 no Clin Epigenetics (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 no Sci Rep (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 no Neurol Genet (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 no Neurol Genet (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 no Mol Genet Genomic Med (2016)