“Devolution” of bipedality

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

Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

por Wang, Ying, Smith, Christopher, Parboosingh, Jillian S., Khan, Aneal, Innes, Micheil, Hekimi, Siegfried
Publicado no J Cell Mol Med (2017)

Optimizing genotype quality metrics for individual exomes and cohort analysis

por Gordon, Paul MK, Dimnik, Leo, Lamont, Ryan, Innes, Micheil, Bernier, Francois, Parboosingh, Jillian
Publicado em 2012

A 52-year-old man with cognitive decline, seizure and stroke

por Simon, Jessica E., Parboosingh, Jillian, Clark, Arthur, George, David, Lafontaine, Anne-Louise, Hill, Michael D.
Publicado em 2004

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

Effects of Six-Month Aerobic Exercise Intervention on Sleep in Healthy Older Adults in the Brain in Motion Study: A Pilot Study

por Guadagni, Veronica, Clark, Cameron M., Tyndall, Amanda, Raneri, Jill K., Parboosingh, Jillian S., Hogan, David B., Hanly, Patrick J., Poulin, Marc J.
Publicado no J Alzheimers Dis Rep (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)

CCMG practice guideline: laboratory guidelines for next-generation sequencing

por Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Publicado no J Med Genet (2019)

Evidence of association between sleep quality and APOE ε4 in healthy older adults: A pilot study

por Drogos, Lauren L., Gill, Stephanie J., Tyndall, Amanda V., Raneri, Jill K., Parboosingh, Jillian S., Naef, Aileen, Guild, Kyle D., Eskes, Gail, Hanly, Patrick J., Poulin, Marc J.
Publicado no Neurology (2016)

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

por Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.
Publicado em 2005

Genetic Risk, Vascular Function, and Subjective Cognitive Complaints Predict Objective Cognitive Function in Healthy Older Adults: Results From the Brain in Motion Study

por Tyndall, Amanda V., Longman, R. Stewart, Sajobi, Tolulope T., Parboosingh, Jillian S., Drogos, Lauren L., Davenport, Margie H., Eskes, Gail A., Hogan, David B., Hill, Michael D., Poulin, Marc J.
Publicado no Front Integr Neurosci (2020)

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau...

por Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.
Publicado no Hum Mutat (2015)

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

por Narod, Steven A., Parry, Dilys M., Parboosingh, Jillian, Lenoir, Gilbert M., Ruttledge, Martin, Fischer, Georges, Eldridge, Roswell, Martuza, Robert L., Frontali, Marina, Haines, Jonathan, Gusella, James F., Rouleau, Guy A.
Publicado em 1992

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

por Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
Publicado no Am J Med Genet A (2012)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

por Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2015)

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

por Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami
Publicado no Am J Hum Genet (2014)

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

por Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Publicado no Hum Mutat (2015)

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping

por Gordon, Paul M. K., Khan, Aneal, Sajid, Umair, Chang, Nicholas, Suresh, Varun, Dimnik, Leo, Lamont, Ryan E., Parboosingh, Jillian S., Martin, Steven R., Pon, Richard T., Weatherhead, Jene, Wegener, Shelly, Isaac, Debra, Greenway, Steven C.
Publicado no Front Cardiovasc Med (2016)

Cardiometabolic risk factors predict cerebrovascular health in older adults: results from the Brain in Motion study

por Tyndall, Amanda V., Argourd, Laurie, Sajobi, Tolulope T., Davenport, Margie H., Forbes, Scott C., Gill, Stephanie J., Parboosingh, Jillian S., Anderson, Todd J., Wilson, Ben J., Smith, Eric E., Hogan, David B., Hill, Michael D., Poulin, Marc J.
Publicado no Physiol Rep (2016)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

por van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Publicado no Eur J Hum Genet (2018)