Matthew Lines

Matthew Lines

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Matthew Lines

Matthew Lines

Publications by authors named "Matthew Lines"

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

Eur J Hum Genet 2019 Oct 5;27(10):1611-1618. Epub 2019 Jul 5.

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

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http://dx.doi.org/10.1038/s41431-019-0462-xDOI Listing
October 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 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

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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http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
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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http://doi.wiley.com/10.1002/ajmg.b.32610
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32610DOI Listing
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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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

Orphanet J Rare Dis 2016 06 18;11(1):79. Epub 2016 Jun 18.

Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s13023-016-0466-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912790PMC
June 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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http://dx.doi.org/10.1503/cmaj.140657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312148PMC
February 2015

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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http://dx.doi.org/10.1007/8904_2013_277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213339PMC
October 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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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

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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http://dx.doi.org/10.1164/rccm.201312-2225LEDOI Listing
March 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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http://dx.doi.org/10.1007/8904_2013_247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797PMC
January 2014

COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.

Can J Neurol Sci 2012 Sep;39(5):654-7

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

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http://dx.doi.org/10.1017/s0317167100015420DOI Listing
September 2012

Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment.

Invest Ophthalmol Vis Sci 2004 Nov;45(11):3904-13

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

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http://dx.doi.org/10.1167/iovs.04-0628DOI Listing
November 2004

Genetics and ARMD.

CMAJ 2004 May;170(10):1518-9

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC400700PMC
May 2004

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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http://dx.doi.org/10.1016/s0161-6420(02)01187-9DOI Listing
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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http://dx.doi.org/10.1093/hmg/11.10.1177DOI Listing
May 2002