Kym Boycott

Kym Boycott

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Kym Boycott

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p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Clin Genet 2019 Nov 13;96(5):449-455. Epub 2019 Aug 13.

Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1111/cge.13618DOI Listing
November 2019

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.

Pediatr Dev Pathol 2019 May-Jun;22(3):258-264. Epub 2018 Aug 13.

1 Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://journals.sagepub.com/doi/10.1177/1093526618787736
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http://dx.doi.org/10.1177/1093526618787736DOI Listing
September 2019

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Eur J Med Genet 2019 Jul 6;62(7):103662. Epub 2019 May 6.

Department of Medical Genetics, University of Pécs, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1016/j.ejmg.2019.05.001DOI Listing
July 2019

Correction: The value of diagnostic testing for parents of children with rare genetic diseases.

Genet Med 2019 Jul 18. Epub 2019 Jul 18.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s41436-019-0615-xDOI Listing
July 2019

The value of diagnostic testing for parents of children with rare genetic diseases.

Genet Med 2019 Jun 26. Epub 2019 Jun 26.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s41436-019-0583-1DOI Listing
June 2019

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Clin Genet 2019 May 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13523DOI Listing
May 2019

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.

Am J Med Genet A 2019 May 5;179(5):813-816. Epub 2019 Mar 5.

Regional Genetics Program, CHEO, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61076DOI Listing
May 2019

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Eur J Med Genet 2019 Apr 27. Epub 2019 Apr 27.

Department of Medical Genetics, University of Pécs, Clinical Center, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183073
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http://dx.doi.org/10.1016/j.ejmg.2019.04.012DOI Listing
April 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 Mar;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193022
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http://dx.doi.org/10.1016/j.cell.2019.02.040DOI Listing
March 2019

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.

Am J Med Genet A 2019 Feb 6:674-746. Epub 2019 Feb 6.

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

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http://dx.doi.org/10.1002/ajmg.a.61063DOI Listing
February 2019

Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.

Can J Neurol Sci 2019 01 13;46(1):7-13. Epub 2018 Nov 13.

1Epilepsy Program,Division of Neurology,Department of Pediatrics,The Hospital for Sick Children,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2018.341DOI Listing
January 2019

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

J Neuromuscul Dis 2019 ;6(3):333-339

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.3233/JND-190404DOI Listing
January 2019

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Am J Med Genet C Semin Med Genet 2018 12;178(4):458-463

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.c.31662
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http://dx.doi.org/10.1002/ajmg.c.31662DOI Listing
December 2018

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Am J Med Genet C Semin Med Genet 2018 12;178(4):382-386

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

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http://dx.doi.org/10.1002/ajmg.c.31665DOI Listing
December 2018

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet 2018 12;178(4):447-457

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31660DOI Listing
December 2018

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317987PMC
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

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Am J Med Genet A 2018 11 5;176(11):2523-2527. Epub 2018 Oct 5.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.

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http://doi.wiley.com/10.1002/ajmg.a.40349
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http://dx.doi.org/10.1002/ajmg.a.40349DOI Listing
November 2018

Novel mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Neurol Genet 2018 Aug 26;4(4):e263. Epub 2018 Jul 26.

Department of Medicine (Neurology) (P.R.B., J.W-C., D.A.L.), University of Ottawa; Ottawa Hospital Research Institute (P.R.B., J.W-C.); Department of Medicine (Dermatology) (L.L., C.K.), University of Ottawa; Department of Anatomical Pathology (S.H.B.), University of Ottawa; and Department of Genetics (J.W-C., T.H., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066365PMC
August 2018

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Genome-wide sequencing technologies: A primer for paediatricians.

Paediatr Child Health 2018 May 2;23(3):191-197. Epub 2017 Dec 2.

Department of Genetics, Children's Hospital Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1093/pch/pxx152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951083PMC
May 2018

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

J Child Neurol 2018 04 8;33(5):329-332. Epub 2018 Feb 8.

1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://journals.sagepub.com/doi/10.1177/0883073818756680
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http://dx.doi.org/10.1177/0883073818756680DOI Listing
April 2018

Addressing challenges in the diagnosis and treatment of rare genetic diseases.

Nat Rev Drug Discov 2018 03 15;17(3):151-152. Epub 2017 Dec 15.

International Rare Diseases Research Consortium.

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http://dx.doi.org/10.1038/nrd.2017.246DOI Listing
March 2018

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Hum Mutat 2018 02 14;39(2):197-201. Epub 2017 Dec 14.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.23374DOI Listing
February 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cts.12501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759730PMC
January 2018

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Am J Hum Genet 2018 01;102(1):156-174

Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777983PMC
January 2018

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

Pediatr Blood Cancer 2017 Dec 16;64(12). Epub 2017 May 16.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/pbc.26633DOI Listing
December 2017

Fragile X testing as a second-tier test.

Genet Med 2017 12 14;19(12). Epub 2017 Sep 14.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.147DOI Listing
December 2017

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
October 2017

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Am J Med Genet A 2017 Jul 9;173(7):1839-1847. Epub 2017 May 9.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38250DOI Listing
July 2017

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

J Hum Genet 2017 Jun 23;62(6):661-663. Epub 2017 Feb 23.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/jhg.2017.18DOI Listing
June 2017

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Am J Med Genet A 2017 Jun 21;173(6):1611-1619. Epub 2017 Apr 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.38231DOI Listing
June 2017

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Invest Ophthalmol Vis Sci 2017 03;58(3):1736-1742

Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1167/iovs.16-20864DOI Listing
March 2017

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet 2017 02 26;25(2):162-165. Epub 2016 Oct 26.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2016.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255942PMC
February 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Am J Med Genet A 2017 Jan 15;173(1):126-134. Epub 2016 Sep 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37973DOI Listing
January 2017

When One Diagnosis Is Not Enough.

N Engl J Med 2017 01 7;376(1):83-85. Epub 2016 Dec 7.

From the Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.), and the Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB (A.M.I.) - both in Canada.

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http://www.nejm.org/doi/10.1056/NEJMe1614384
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http://dx.doi.org/10.1056/NEJMe1614384DOI Listing
January 2017

The defining DNA methylation signature of Floating-Harbor Syndrome.

Sci Rep 2016 12 9;6:38803. Epub 2016 Dec 9.

Department of Pathology and Laboratory Medicine, Western University, 1151 Richmond Street, London, N6A 3K7, Canada.

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http://dx.doi.org/10.1038/srep38803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5146968PMC
December 2016

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Mol Genet Genomic Med 2016 Sep 10;4(5):504-12. Epub 2016 May 10.

Children's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaOntarioCanada; Department of GeneticsChildren's Hospital of Eastern Ontario ResearchOttawaOntarioCanada.

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http://dx.doi.org/10.1002/mgg3.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023935PMC
September 2016

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

CMAJ 2016 Aug 30;188(11):E254-E260. Epub 2016 May 30.

Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

Eur J Hum Genet 2016 07 2;24(7):1016-21. Epub 2015 Dec 2.

Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.

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http://www.nature.com/doifinder/10.1038/ejhg.2015.240
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http://dx.doi.org/10.1038/ejhg.2015.240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070891PMC
July 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

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

Am J Med Genet A 2016 Apr 11;170A(4):1070-5. Epub 2016 Jan 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37541DOI Listing
April 2016

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Neurogenetics 2016 Apr 26;17(2):137-41. Epub 2016 Feb 26.

Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

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http://dx.doi.org/10.1007/s10048-016-0476-2DOI Listing
April 2016

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Brain 2016 Mar 10;139(Pt 3):e19. Epub 2015 Dec 10.

2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada

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http://dx.doi.org/10.1093/brain/awv362DOI Listing
March 2016

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Am J Med Genet A 2016 Feb 27;170A(2):531-535. Epub 2015 Nov 27.

Care4Rare Canada Consortium, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37402DOI Listing
February 2016

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Neurol Genet 2016 Feb 22;2(1):e38. Epub 2015 Dec 22.

Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817904PMC
February 2016

Very late-onset Sandhoff disease presenting as Kennedy disease.

Muscle Nerve 2015 Dec;52(6):1135-6

Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/mus.24775DOI Listing
December 2015

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.

Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1

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http://dx.doi.org/10.1093/hmg/ddv337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614701PMC
November 2015

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Am J Med Genet A 2015 Nov 26;167A(11):2867. Epub 2015 Aug 26.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37270DOI Listing
November 2015

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Neuromuscul Disord 2015 Oct 5;25(10):794-9. Epub 2015 Aug 5.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.017DOI Listing
October 2015

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Curr Neurol Neurosci Rep 2015 Sep;15(9):64

Division of Neurology, The Ottawa Hospital, 1053 Carling Avenue, Ottawa, ON, K1Y 4E9, Canada.

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http://link.springer.com/content/pdf/10.1007/s11910-015-0584
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September 2015