Kym M Boycott

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Kym M Boycott

Publications by authors named "Kym M Boycott"

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98Publications

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

Am J Hum Genet 2018 May 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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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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May 2018

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

J Child Neurol 2018 Apr 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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April 2018

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

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

International Rare Diseases Research Consortium.

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March 2018

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

Hum Mutat 2018 Feb 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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February 2018

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

Cell 2018 Feb;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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February 2018

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

Clin Transl Sci 2018 Jan 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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January 2018

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

Am J Hum Genet 2018 Jan;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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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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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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December 2017

"Matching" consent to purpose: The example of the Matchmaker Exchange.

Hum Mutat 2017 Oct 12;38(10):1281-1285. Epub 2017 Jul 12.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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October 2017

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 Oct 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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October 2017

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Genetics 2017 09;207(1):9-27

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030

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September 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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June 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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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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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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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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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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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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September 2016

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

CMAJ 2016 Aug 30;188(11):E254-60. 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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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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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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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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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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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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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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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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February 2016

Consent Codes: Upholding Standard Data Use Conditions.

PLoS Genet 2016 Jan 21;12(1):e1005772. Epub 2016 Jan 21.

National Centre for Biotechnology Information, US National Library of Medicine, Bethesda, Maryland, United States of America.

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January 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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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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November 2015

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Hum Mol Genet 2015 Oct 7;24(R1):R60-6. Epub 2015 Jul 7.

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

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October 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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October 2015

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Hum Mol Genet 2015 Sep 17;24(18):5109-14. Epub 2015 Jun 17.

ANZAC Research Institute, University of Sydney, Concord Hospital, New South Wales, Australia.

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September 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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September 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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August 2015

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Eur J Hum Genet 2015 Jul 5;23(7):990-2. Epub 2014 Nov 5.

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

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July 2015

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Am J Med Genet A 2015 Jun 21;167(6):1337-41. Epub 2015 Apr 21.

Division of Otolaryngology, Head and Neck Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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June 2015

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Neurobiol Aging 2015 Feb 6;36(2):1222.e1-5. Epub 2014 Sep 6.

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

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February 2015

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.

Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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February 2015

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.

Am J Med Genet A 2014 Dec 23;164A(12):3209-12. Epub 2014 Sep 23.

Division of Neurology, Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.

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December 2014

Neuropathologic features of pontocerebellar hypoplasia type 6.

J Neuropathol Exp Neurol 2014 Nov;73(11):1009-25

From the Calgary Laboratory Services (JTJ) and Alberta Children's Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics (AMI), University of Calgary, Calgary, Alberta; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario (ACS, MRV, FCC, DEB, JMichaud, KMB); and McGill University and Genome Quebec Innovation Center, Montreal, Quebec (JAS, JMajewski), Canada; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington (RFH, RAD); and Department of Neurological Surgery, University of Washington, Seattle, Washington (RFH).

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November 2014

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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November 2014

Understanding rare disease pathogenesis: a grand challenge for model organisms.

Genetics 2014 Oct;198(2):443-5

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada K1H 8L1.

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October 2014

Identification of genes for childhood heritable diseases.

Annu Rev Med 2014 ;65:19-31

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada; email: , , , , .

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September 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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June 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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March 2014

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

BMC Med Genet 2014 Mar 26;15:36. Epub 2014 Mar 26.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON K1H 8 L1, Canada.

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March 2014

Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.

Hum Mutat 2014 Feb 27;35(2):265-9. Epub 2013 Nov 27.

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

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February 2014

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

J Med Genet 2014 Jan 27;51(1):68-70. Epub 2013 Sep 27.

Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.

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January 2014

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

BMC Neurol 2014 Jan 31;14:22. Epub 2014 Jan 31.

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

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January 2014