“Devolution” of bipedality

ανά Herz, Joachim, Boycott, Kym M., Parboosingh, Jillian S.
Έκδοση 2008

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

ανά Wang, Ying, Smith, Christopher, Parboosingh, Jillian S., Khan, Aneal, Innes, Micheil, Hekimi, Siegfried
Τόπος έκδοσης J Cell Mol Med (2017)

Optimizing genotype quality metrics for individual exomes and cohort analysis

ανά Gordon, Paul MK, Dimnik, Leo, Lamont, Ryan, Innes, Micheil, Bernier, Francois, Parboosingh, Jillian
Έκδοση 2012

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

ανά Simon, Jessica E., Parboosingh, Jillian, Clark, Arthur, George, David, Lafontaine, Anne-Louise, Hill, Michael D.
Έκδοση 2004

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

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

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

ανά Guadagni, Veronica, Clark, Cameron M., Tyndall, Amanda, Raneri, Jill K., Parboosingh, Jillian S., Hogan, David B., Hanly, Patrick J., Poulin, Marc J.
Τόπος έκδοσης J Alzheimers Dis Rep (2018)

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

ανά Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Τόπος έκδοσης Mol Genet Genomic Med (2016)

CCMG practice guideline: laboratory guidelines for next-generation sequencing

ανά Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Τόπος έκδοσης J Med Genet (2019)

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

ανά 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.
Τόπος έκδοσης Neurology (2016)

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

ανά 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.
Έκδοση 2005

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

ανά 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.
Τόπος έκδοσης 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...

ανά 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.
Τόπος έκδοσης Hum Mutat (2015)

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

ανά 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.
Έκδοση 1992

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

ανά 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
Τόπος έκδοσης Am J Med Genet A (2012)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2015)

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης 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

ανά 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.
Τόπος έκδοσης Front Cardiovasc Med (2016)

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

ανά 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.
Τόπος έκδοσης Physiol Rep (2016)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2018)