Jillian S Parboosingh

Jillian S Parboosingh

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Jillian S Parboosingh

Jillian S Parboosingh

Publications by authors named "Jillian S Parboosingh"

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The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.

EBioMedicine 2019 Jul 21;45:379-392. Epub 2019 Jun 21.

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Hotchkiss Brain Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642256PMC
July 2019

is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Life Sci Alliance 2019 04 11;2(2). Epub 2019 Mar 11.

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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http://dx.doi.org/10.26508/lsa.201900353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412922PMC
April 2019

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

J Alzheimers Dis Rep 2018 Dec 24;2(1):229-238. Epub 2018 Dec 24.

Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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https://www.medra.org/servlet/aliasResolver?alias=iospress&a
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http://dx.doi.org/10.3233/ADR-180079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311349PMC
December 2018

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Am J Med Genet A 2018 11 23;176(11):2487-2493. Epub 2018 Sep 23.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.

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http://dx.doi.org/10.1002/ajmg.a.40516DOI Listing
November 2018

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.

J Obstet Gynaecol Can 2018 11;40(11):1417-1423

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB. Electronic address:

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http://dx.doi.org/10.1016/j.jogc.2018.02.002DOI Listing
November 2018

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

J Cell Mol Med 2017 10 13;21(10):2329-2343. Epub 2017 Apr 13.

Department of Biology, McGill University, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/jcmm.13154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618687PMC
October 2017

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Am J Med Genet A 2017 Oct 11;173(10):2596-2604. Epub 2017 Jul 11.

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38355
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http://dx.doi.org/10.1002/ajmg.a.38355DOI Listing
October 2017

Cover Image, Volume 173A, Number 10, October 2017.

Am J Med Genet A 2017 Oct;173(10)

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38481DOI Listing
October 2017

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.

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http://dx.doi.org/10.1002/ajmg.a.38227DOI Listing
May 2017

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37983DOI Listing
March 2017

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.

Can J Cardiol 2017 02 26;33(2):292.e5-292.e7. Epub 2016 Sep 26.

Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2016.08.019DOI Listing
February 2017

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

Neurology 2016 Oct;87(17):1836-1842

From the Department of Physiology & Pharmacology (L.L.D., A.V.T., A.N., K.D.G., G.E., M.J.P.), Hotchkiss Brain Institute (L.L.D., S.J.G., A.V.T., A.N., K.D.G., P.J.H., M.J.P.), Department of Medical Sciences (S.J.G.), Department of Medicine (J.K.R., P.J.H.), Department of Medical Genetics (J.S.P.), Department of Clinical Neurosciences (M.J.P.), and Libin Cardiovascular Institute of Alberta (M.J.P.), Cumming School of Medicine, and Alberta Children's Hospital Research Institute for Child and Maternal Health (J.S.P.), Faculty of Kinesiology (M.J.P.), and Sleep Centre, Foothills Medical Centre (J.K.R., P.J.H.), University of Calgary; and Department of Psychiatry, Faculty of Medicine (G.E.), and Department of Psychology and Neuroscience, Faculty of Science (G.E.), Dalhousie University, Halifax, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000003255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089524PMC
October 2016

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

Front Cardiovasc Med 2016 22;3:33. Epub 2016 Sep 22.

Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Paediatrics, University of Calgary, Calgary, AB, Canada; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada; Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, AB, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031701PMC
http://dx.doi.org/10.3389/fcvm.2016.00033DOI Listing
September 2016

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

Mol Genet Genomic Med 2016 May 19;4(3):312-21. Epub 2016 Jan 19.

Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; Clinical Biochemistry and GeneticsDiagnostic Services Manitoba at Health Sciences CentreWinnipegMB R3A 1R9Canada.

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http://dx.doi.org/10.1002/mgg3.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867565PMC
May 2016

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

Physiol Rep 2016 Apr;4(8)

Department of Physiology & Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, T2N 4N1, Canada Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, T2N 4N1, Canada Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, T2N 4N1, Canada Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, T2N 4N1, Canada Department of Medicine, Cumming School of Medicine University of Calgary, Calgary, Alberta, T2N 4N1, Canada Faculty of Kinesiology, University of Calgary, Calgary, Alberta, T2N 1N4, Canada

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http://dx.doi.org/10.14814/phy2.12733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848715PMC
April 2016

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Am J Med Genet A 2016 Mar 22;170(3):760-5. Epub 2015 Dec 22.

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37514DOI Listing
March 2016

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Am J Hum Genet 2015 Dec 19;97(6):862-8. Epub 2015 Nov 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678428PMC
December 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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http://www.nature.com/articles/ncomms5483
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http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Am J Med Genet A 2014 Mar 19;164A(3):676-84. Epub 2013 Dec 19.

Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36340DOI Listing
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Am J Med Genet A 2014 Feb 19;164A(2):441-8. Epub 2013 Dec 19.

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36320DOI Listing
February 2014

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Am J Med Genet A 2013 Nov 24;161A(11):2855-9. Epub 2013 Sep 24.

Department of Medical Genetics, University of Calgary, Calgary, AB, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36172DOI Listing
November 2013

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Am J Med Genet A 2013 Sep 2;161A(9):2311-5. Epub 2013 Aug 2.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36051DOI Listing
September 2013

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Am J Med Genet A 2013 May 26;161A(5):1148-53. Epub 2013 Mar 26.

Department of Medical Genetics, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35827DOI Listing
May 2013

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Am J Med Genet A 2012 May 11;158A(5):1229-32. Epub 2012 Apr 11.

Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247856PMC
May 2012

Congenital stationary night blindness: mutation update and clinical variability.

Adv Exp Med Biol 2012 ;723:371-9

Department of Medical Genetics, University of Calgary, and Alberta Children's Hospital Research Institute, Heritage Medical Research Building, Room No 258, Calgary, AB, Canada.

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http://link.springer.com/content/pdf/10.1007/978-1-4614-0631
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http://link.springer.com/10.1007/978-1-4614-0631-0_48
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http://dx.doi.org/10.1007/978-1-4614-0631-0_48DOI Listing
April 2012

"Devolution" of bipedality.

Proc Natl Acad Sci U S A 2008 May 16;105(21):E25. Epub 2008 May 16.

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http://dx.doi.org/10.1073/pnas.0802584105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396673PMC
May 2008

An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier.

Am J Med Genet A 2008 Apr;146A(8):1067-71

Molecular Diagnostic Laboratory, Alberta Children's Hospital, Calgary, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32231DOI Listing
April 2008

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Am J Med Genet A 2007 Aug;143A(15):1715-25

Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31832DOI Listing
August 2007

The effect of iron status on vascular health.

Vasc Med 2006 May;11(2):85-91

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1191/1358863x06vm656oaDOI Listing
May 2006