Publications by authors named "Matthew A Lines"

29Publications

A splice variant in expands the clinical and genetic spectrum of Harel-Yoon syndrome.

Neurol Genet 2020 Aug 3;6(4):e452. Epub 2020 Jun 3.

Division of Neurology (I.H., H.J.M.), Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute (H.J.M., Y.I., D.A.D.), University of Ottawa; Newborn Screen Ontario (K.D.K.), Ottawa; Department of Clinical Genetics (J.L., D.A.D.), and Division of Metabolics (M.A.L.), Children's Hospital of Eastern Ontario, University of Ottawa.

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August 2020

Autosomal dominant transmission of transient neonatal lactic acidosis: a case report.

BMC Pediatr 2020 04 20;20(1):177. Epub 2020 Apr 20.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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April 2020

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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March 2018

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):101-109. Epub 2017 Nov 20.

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

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January 2018

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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August 2016

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

CMAJ 2015 Feb 1;187(2):102-107. Epub 2014 Dec 1.

Department of Genetics (Marcadier), Children's Hospital of Eastern Ontario; Division of Gastroenterology, Hepatology and Nutrition (Boland), Children's Hospital of Eastern Ontario; Department of Pediatrics (Boland, Issa, Geraghty, Lines), University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ont.; Department of Pediatrics (Scott, Wu), University of Washington, Seattle, Wash.; Robarts Research Institute (McIntyre, Hegele), Schulich School of Medicine and Dentistry, Western University, London, Ont.; Metabolics (Geraghty, Lines), Children's Hospital of Eastern Ontario, Ottawa, Ont.

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February 2015

Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.

Am J Respir Crit Care Med 2014 Mar;189(6):750-2

1 Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada and.

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March 2014

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

From Metabolics and Newborn Screening (M.A.L.), University of Ottawa, Children's Hospital of Eastern Ontario; Clinical and Metabolic Genetics (R.J.), and The Centre for Applied Genomics and Program in Genetics and Genome Biology (C.R.M., S.W.S.), The Hospital for Sick Children, Toronto; Neuromuscular and Neuorometabolic Disorders (L.B., M.A.T.), and Department of Ophthalmology (A.R.R.), McMaster University, Hamilton; Department of Molecular Genetics, McLaughlin Centre (C.R.M., S.W.S.), and Division of Neurology, Sunnybrook Health Sciences Centre (L.L.), University of Toronto; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease (A.E.L., T.A.M.), Toronto Western Hospital, Canada; and Laboratory Genetic Metabolic Diseases (R.J.A.W., S.F.), Academic Medical Center, University of Amsterdam, the Netherlands.

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March 2014

Danon Disease Due to a Novel LAMP2 Microduplication.

JIMD Rep 2014 13;14:11-6. Epub 2013 Nov 13.

Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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October 2014

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

JIMD Rep 2014 31;12:79-84. Epub 2013 Jul 31.

Division of Metabolics and Newborn Screening, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada.

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January 2014

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Ophthalmology 2002 Oct;109(10):1862-70

Department of Ophthalmology, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.

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October 2002

Molecular genetics of Axenfeld-Rieger malformations.

Hum Mol Genet 2002 May;11(10):1177-84

Ocular Genetics Laboratory, Department of Ophthalmology, 8-32 Medical Sciences Building, University of Alberta, Edmonton, Canada T6G 2E1.

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May 2002