Jillian S. Parboosingh

Author

Also Known As

A. Micheil Innes, Catrina Loucks, Darren O'Rielly, J Parboosingh, J. Parboosingh, J. S. Parboosingh, J.S. Parboosingh, Jillian Parboosingh, Jillian S Parboosingh, Jillian S. Parboosingh

143

Publications

5.5K

Citations

H-Index

120

Concepts

All Affiliations

University of Calgary Alberta Children's Hospital Children's Hospital of Eastern Ontario McGill University University of Ottawa

About

Jillian S. Parboosingh is an author at University of Calgary specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	34	2.6K
2	Public Health	10	10	346
3	Social Sciences	3	3	114
4	Health Sciences	1	1	46
5	Natural Sciences	1	1	223

Jillian S. Parboosingh

Publications

4.7K

Citations

H-Index

Page 1

	Year	Citations
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Genome biology	2014	432
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Nature Cell Biology Ciliopathy GenesFunctional GenomicsGliomaGeneticsGene Regulation	2015	245
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, The American Journal of Human Genetics Neurodegenerative DiseasesMendelian DisorderAutosomal-recessive Intellectual DisabilityGenetic DisorderGenetics	2015	224
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome François P. Bernier, Oana Caluseriu, Sarah Ng, The American Journal of Human Genetics Genetic DisorderNatural SciencesGeneticsGenomic MechanismMolecular Biology	2012	223
Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification Kym M. Boycott, Shauna Flavelle, Alexandre Bureau, The American Journal of Human Genetics Homozygous DeletionNeurodegenerative DiseasesMendelian DisorderGenetic DisorderGenetics	2005	216
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Journal of Clinical Investigation GeneticsRenal PathologySteroid-resistant Nephrotic SyndromePathologyMolecular Genetics	2017	205
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone Lijia Huang, Katarzyna Szymańska, Victor L. Jensen, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsClinical GeneticsTmem Family	2011	199
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency Rebecca Buchert, Hasan Tawamie, Christopher Smith, The American Journal of Human Genetics Metabolic SyndromeCataracts DueMetabolic DisorderOphthalmologyGenetic Disorder	2014	127
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Jason O'Rawe, Yiyang Wu, Max J. Dörfel, The American Journal of Human Genetics	2015	125
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, The American Journal of Human Genetics Genetic DisorderMedicineGeneticsPathologyDisease Spectrum	2013	118

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