A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

por Besa Lehmann, Valentina, Rosenbaum, Marc, Bulman, Dennis E., Read, Tara, Verhagen Metman, Leo
Publicado 2020

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

por Blagojevic, Christina, Heung, Tracy, Theriault, Mylene, Tomita-Mitchell, Aoy, Chakraborty, Pranesh, Kernohan, Kristin, Bulman, Dennis E., Bassett, Anne S.
Publicado 2021

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

por Mandola, Amarilla B., Reid, Brenda, Sirror, Raga, Brager, Rae, Dent, Peter, Chakroborty, Pranesh, Bulman, Dennis E., Roifman, Chaim M.
Publicado 2019

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

por Chen, Andrew T., Brady, Lauren, Bulman, Dennis E., Sundaram, Arun N. E., Rodriguez, Amadeo R., Margolin, Edward, Waye, John S., Tarnopolsky, Mark A.
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

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

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

por Racacho, Lemuel, Byrnes, Ashley M, MacDonald, Heather, Dranse, Helen J, Nikkel, Sarah M, Allanson, Judith, Rosser, Elisabeth, Underhill, T Michael, Bulman, Dennis E
Publicado 2015

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

por Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A
Publicado 2013

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

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

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Warman-Chardon, Jodi, 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 2022

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

por Niri, Farshad, Nicholls, Jessie, Baptista Wyatt, Kelly, Walker, Christine, Price, Tiffany, Kelln, Rhonda, Hume, Stacey, Parboosingh, Jillian, Lilley, Margaret, Kolski, Hanna, Ridsdale, Ross, Muranyi, Andrew, Mah, Jean K., Bulman, Dennis E.
Publicado 2023

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

por Marcadier, Julien L, Smith, Amanda M, Pohl, Daniela, Schwartzentruber, Jeremy, Al-Dirbashi, Osama Y, Majewski, Jacek, Ferdinandusse, Sacha, Wanders, Ronald JA, Bulman, Dennis E, Boycott, Kym M, Chakraborty, Pranesh, Geraghty, Michael T
Publicado 2013

T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis

por Wilson, Kumanan, Duque, Daniel Rodriguez, Murphy, Malia S.Q, Hawken, Steven, Pham-Huy, Anne, Kwong, Jeffrey, Deeks, Shelley L., Potter, Beth K., Crowcroft, Natasha S., Bulman, Dennis E., Chakraborty, Pranesh, Little, Julian
Publicado 2018

Intellectual disability associated with a homozygous missense mutation in THOC6

por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M
Publicado 2013

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

por McMillan, Hugh J, Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C, Lawrence, Sarah E, MacKenzie, Alex, Beaulieu, Chandree L, Mooyer, Petra A W, Wanders, Ronald J A, Majewski, Jacek, Bulman, Dennis E, Geraghty, Michael T, Ferdinandusse, Sacha, Boycott, Kym M
Publicado 2012

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

por Sawyer, Sarah L, Schwartzentruber, Jeremy, Beaulieu, Chandree L, Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A, Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A, Marshall, Christian R, Bulman, Dennis E, Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M
Publicado 2014

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

por Farhan, Sali M K, Dilliott, Allison A, Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D, Cao, Henian, Racacho, Lemuel, Robinson, John F, Strong, Michael J, Masellis, Mario, St George-Hyslop, Peter, Bulman, Dennis E, Rogaeva, Ekaterina, Hegele, Robert A
Publicado 2016

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

por Dilliott, Allison A., Farhan, Sali M.K., Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D., Cao, Henian, Racacho, Lemuel, Robinson, John F., Strong, Michael J., Masellis, Mario, Bulman, Dennis E., Rogaeva, Ekaterina, Lang, Anthony, Tartaglia, Carmela, Finger, Elizabeth, Zinman, Lorne, Turnbull, John, Freedman, Morris, Swartz, Rick, Black, Sandra E., Hegele, Robert A.
Publicado 2018

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

por McDonell, Laura M., Mirzaa, Ghayda M., Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T., Lee, Leo J., Clericuzio, Carol L., Graham, John M., Morris-Rosendahl, Deborah J., Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, Smyser, Christopher D., Paciorkowski, Alex R., Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L., Marcadier, Janet, Geraghty, Michael T., Frey, Brendan J., Majewski, Jacek, Bulman, Dennis E., Dobyns, William B., O’Driscoll, Mark, Boycott, Kym M.
Publicado 2013