Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

J. Parboosingh · SciRah

Researcher profile · Semantic Scholar

J. Parboosingh

Share profile

J. Parboosingh — researcher profile on SciRah

h-index: 36
Works: 116
Citations: 4,326

Most-cited papers

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
K. Davey, J. Parboosingh, D. R. Mcleod, A. Chan +5 more
2005Journal of Medical Genetics250 citations Open access
Semantic Scholar
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G. Wheway, M. Schmidts, D. A. Mans, K. Szymanska +72 more
2015Nature Cell Biology240 citations Open access
Semantic Scholar
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
K. Boycott, C. Beaulieu, K. Kernohan, O. Gebril +22 more
2015American Journal of Human Genetics208 citations Open access
Semantic Scholar
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
F. Bernier, O. Caluseriu, Sarah B. H. Ng, J. Schwartzentruber +19 more
2012American Journal of Human Genetics203 citations Open access
Semantic Scholar
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
S. Lovric, S. Gonçalves, H. Gee, B. Oskouian +61 more
2017Journal of Clinical Investigation159 citations Open access
Semantic Scholar
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
T. Balci, T. Hartley, Y. Xi, D. Dyment +22 more
2017Clinical Genetics126 citations
Semantic Scholar
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
R. Buchert, Hasan Tawamie, Christopher Smith, S. Uebe +9 more
2014American Journal of Human Genetics126 citations Open access
Semantic Scholar
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Jason A. O'Rawe, Yi-Yang Wu, M. Dörfel, A. Rope +44 more
2015American Journal of Human Genetics116 citations Open access
Semantic Scholar
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
K. Aldinger, S. Mosca, M. Tétreault, J. Dempsey +15 more
2014American Journal of Human Genetics103 citations Open access
Semantic Scholar
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
R. Shaheen, H. Shamseldin, C. Loucks, M. Seidahmed +18 more
2014American Journal of Human Genetics91 citations Open access
Semantic Scholar
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
J. Simard, M. Dumont, A. Moisan, V. Gaborieau +31 more
2006Journal of Medical Genetics84 citations Open access
Semantic Scholar
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
Danielle C Lynch, T. Revil, J. Schwartzentruber, E. Bhoj +15 more
2014Nature Communications73 citations Open access
Semantic Scholar
Association between Lifetime Physical Activity and Cognitive Functioning in Middle-Aged and Older Community Dwelling Adults: Results from the Brain in Motion Study
S. Gill, C. Friedenreich, T. Sajobi, R. S. Longman +9 more
2015Journal of the International Neuropsychological Society69 citations
Semantic Scholar
Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment
Ying Wang, Christopher Smith, J. Parboosingh, Aneal Khan +2 more
2017Journal of Cellular and Molecular Medicine67 citations Open access
Semantic Scholar
Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)
K. Boycott, C. Bonnemann, J. Herz, Stephanie Neuert +4 more
2009Journal of Child Neurology67 citations Open access
Semantic Scholar
Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?
K. Gripp, A. Innes, M. Axelrad, T. Gillan +9 more
2008American Journal of Medical Genetics. Part A66 citations
Semantic Scholar
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, R. Sabouny +10 more
2018Life Science Alliance60 citations Open access
Semantic Scholar
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis
Danielle C Lynch, D. Dyment, Li-Jia Huang, S. Nikkel +9 more
2013Human Mutation58 citations Open access
Semantic Scholar
Evidence of association between sleep quality and APOE ε4 in healthy older adults
L. Drogos, S. Gill, A. Tyndall, J. Raneri +6 more
2016Neurology51 citations Open access
Semantic Scholar
Clinical genetics and the Hutterite population: A review of Mendelian disorders
K. Boycott, J. Parboosingh, B. Chodirker, R. B. Lowry +8 more
2008American Journal of Medical Genetics. Part A51 citations
Semantic Scholar
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
C. Lee, He Fu, N. Baratang, J. Rousseau +29 more
2017American Journal of Human Genetics50 citations Open access
Semantic Scholar
Planning the Human Variome Project: The Spain Report
J. Kaput, R. G. Cotton, Lauren Hardman, A. al Aqeel +98 more
2009Human Mutation48 citations Open access
Semantic Scholar
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin +44 more
2019Acta Neuropathologica45 citations Open access
Semantic Scholar
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
T. van Dijk, S. Ferdinandusse, Jos P. N. Ruiter, M. Alders +9 more
2018European Journal of Human Genetics45 citations Open access
Semantic Scholar
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
H. Shamseldin, A. Alazami, M. Manning, A. Hashem +10 more
2015American Journal of Human Genetics45 citations Open access
Semantic Scholar
Expansion of phenotype and genotypic data in CRB2-related syndrome
R. Lamont, W. Tan, A. Innes, J. Parboosingh +16 more
2016European Journal of Human Genetics43 citations Open access
Semantic Scholar
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy
W. Almutawa, Christopher Smith, R. Sabouny, Ryan B. Smit +12 more
2019EBioMedicine42 citations Open access
Semantic Scholar
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
J. Lazier, T. Hartley, Jo-Ann K. Brock, O. Caluseriu +9 more
2021Journal of Medical Genetics40 citations Open access
Semantic Scholar
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, J. Breckpot +13 more
2018European Journal of Human Genetics39 citations Open access
Semantic Scholar
Costs and benefits of non‐invasive fetal RhD determination
L. Teitelbaum, A. Metcalfe, G. Clarke, J. Parboosingh +2 more
2015Ultrasound in Obstetrics and Gynecology39 citations Open access
Semantic Scholar
A dynamic view of depressive symptoms and neurocognitive change among patients with coronary artery disease.
E. Freiheit, D. Hogan, M. Eliasziw, S. Patten +8 more
2012Archives of General Psychiatry37 citations Open access
Semantic Scholar
CCMG practice guideline: laboratory guidelines for next-generation sequencing
Stacey Hume, Tanya N. Nelson, M. Speevak, E. McCready +6 more
2019Journal of Medical Genetics34 citations Open access
Semantic Scholar
Adult Onset Spinocerebellar Ataxia in a Canadian Movement Disorders Clinic
S. Kraft, S. Furtado, R. Ranawaya, J. Parboosingh +6 more
2005Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques33 citations Open access
Semantic Scholar
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, M. Speevak +21 more
2017Genetics in Medicine31 citations Open access
Semantic Scholar
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Chloe E. Mighton, Amanda C. Smith, Justin G. Mayers, R. Tomaszewski +29 more
2021Journal of Medical Genetics30 citations Open access
Semantic Scholar
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping
Paul Gordon, Aneal Khan, U. Sajid, N. Chang +10 more
2016Frontiers in Cardiovascular Medicine30 citations Open access
Semantic Scholar
Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings
Madeleine J. Tooley, Danielle C Lynch, F. Bernier, J. Parboosingh +23 more
2016American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures
P. Y. Billie Au, B. Argiropoulos, J. Parboosingh, A. Innes
2014American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
The role of serotonin receptor alleles and environmental stressors in the development of post‐concussive symptoms after pediatric mild traumatic brain injury
Kimberly Smyth, S. Sandhu, S. Crawford, D. Dewey +2 more
2014Developmental Medicine & Child Neurology29 citations
Semantic Scholar
Meckel syndrome in the Hutterite population is actually a Joubert‐related cerebello‐oculo‐renal syndrome
K. Boycott, J. Parboosingh, James N. Scott, D. R. Mcleod +9 more
2007American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
Mainstreaming of clinical genetic testing: a conceptual framework.
Michael P. Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu +32 more
2025Genetics in Medicine22 citations Open access
Semantic Scholar
Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders
Lauren A. Borch, J. Parboosingh, M. A. Thomas, P. Veale
2020Genetics in Medicine22 citations Open access
Semantic Scholar
Association of sleep spindle characteristics with executive functioning in healthy sedentary middle‐aged and older adults
V. Guadagni, H. Byles, A. Tyndall, J. Parboosingh +5 more
2020Journal of Sleep Research22 citations
Semantic Scholar
De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review
P. Y. Billie Au, H. Racher, J. M. Graham, Nancy Kramer +3 more
2014American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
Congenital stationary night blindness: mutation update and clinical variability.
N. Lodha, C. Loucks, C. Beaulieu, J. Parboosingh +1 more
2012Advances in Experimental Medicine and Biology22 citations
Semantic Scholar
Genetic Association Study in Multigenerational Kindreds With Vasovagal Syncope: Evidence for Involvement of Sex-Specific Serotonin Signaling
R. Sheldon, M. Rose, D. Ritchie, Kristina Martens +4 more
2019Circulation: Arrhythmia and Electrophysiology21 citations Open access
Semantic Scholar
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders
Alison J. Eaton, F. Bernier, Caitlin Goedhart, O. Caluseriu +4 more
2018American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
G. Abdel-Salam, L. Flores‐Sarnat, M. El Ruby, J. Parboosingh +6 more
2011American Journal of Medical Genetics. Part A20 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Innes×23
Invite
A. Innes — researcher profile on SciRah
F. Bernier×16
Invite
F. Bernier — researcher profile on SciRah
K. Boycott×13
Invite
K. Boycott — researcher profile on SciRah
R. Lamont×12
Invite
R. Lamont — researcher profile on SciRah

×8

Invite

J. Majewski — researcher profile on SciRah

J. Schwartzentruber×5

Invite

J. Schwartzentruber — researcher profile on SciRah

D. R. Mcleod×5

Invite

D. R. Mcleod — researcher profile on SciRah

Invite

C. Beaulieu — researcher profile on SciRah

Invite

P. Bridge — researcher profile on SciRah

Invite

H. Racher — researcher profile on SciRah

B. Chodirker×4

Invite

B. Chodirker — researcher profile on SciRah

Invite

A. Chudley — researcher profile on SciRah