Lines Matthew A - Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

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Bio

I am a clinical biochemical geneticist in the Inherited Metabolic Disorders clinic at Alberta Children's Hospital in Calgary, Canada, and a clinical associate professor in Medical Genetics at the Cumming School of Medicine, University of Calgary. I am interested in the genetic basis of rare and novel Mendelian disorders, including inborn errors of metabolism. I have research interests in mitochondrial disorders and in disorders of mRNA splicing.

Research Interests

Papers共 68 篇Author StatisticsCo-AuthorSimilar Experts

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Heterozygous UBR5 Variants Result in a Neurodevelopmental Syndrome with Developmental Delay, Autism, and Intellectual Disability

Pascale Sabeh, Samantha A. Dumas,Claudia Maios, Hiba Daghar, Marek Korzeniowski,Justine Rousseau,Matthew Lines,Andrea Guerin,John J. Millichap,Megan Landsverk,Theresa Grebe,Kristin Lindstrom,Jonathan Strober, Tarik Ait Mouhoub,Christiane Zweier,Michelle Steinraths,Moritz Hebebrand,Bert Callewaert,Rami Abou Jamra, Monika Kautza-Lucht,Meret Wegler,Paul Kruszka,Candy Kumps, Ehud Banne, Marta Biderman Waberski,Anne Dieux,Sarah Raible,Ian Krantz,Livija Medne,Kieran Pechter, Laurent Villard,Renzo Guerrini,Claudia Bianchini,Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay,Emmanuelle Ranza, Xiao-Ru Yang,Emily O'Heir,Kirsten A. Donald,Serini Murugasen,Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews,Marion Lesieur-Sebellin, Genevieve Baujat,Nicolas Derive, Tyler Mark Pierson,Jill R. Murrell,Amelle Shillington,Clothilde Ormieres,Sophie Rondeau,Andre Reis, Alberto Fernandez-Jaen,Ping Yee Billie Au,David A. Sweetser,Lauren C. Briere,Nathalie Couque,Laurence Perrin, Jennifer Schymick,Paul Gueguen,Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, Ethud Banne, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2025)

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Assessing the Quality and Value of Metabolic Chart Data for Capturing Core Outcomes for Pediatric Medium-Chain Acyl-Coa Dehydrogenase (MCAD) Deficiency

BMC Pediatrics（2024）

Cited0Views0WOSBibtex

Clinical Study of Ferredoxin-Reductase-related Mitochondriopathy: Genotype-phenotype Correlation and Proposal of Ancestry-Based Carrier Screening in the Mexican Population

Teresa Campbell,Jesse Slone, Hallie Metzger,Wensheng Liu,Stephanie Sacharow,Amy Yang,Mariya Moosajee,Chiara La Morgia,Valerio Carelli,Flavia Palombo,Matthew A. Lines,A. Micheil Innes,Rebecca J. Levy,Derek Neilson,Nicola Longo,Taosheng Huang

Genetics in Medicine Open (2024): 100841

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Bridging Clinical Care and Research in Ontario, Canada: Maximizing Diagnoses from Reanalysis of Clinical Exome Sequencing Data

Taila Hartley, Elisabeth Soubry,Meryl Acker,Matthew Osmond,Madeline Couse,Meredith K. Gillespie,Yoko Ito,Aren E. Marshall,Gabrielle Lemire,Lijia Huang,Caitlin Chisholm,Alison J. Eaton,E. Magda Price,James J. Dowling,Arun K. Ramani,Roberto Mendoza-Londono,Gregory Costain,Michelle M. Axford,Anna Szuto,Vanda McNiven,Nadirah Damseh,Rebekah Jobling,Leanne de Kock,Bahareh A. Mojarad,Ted Young,Zhuo Shao,Robin Z. Hayeems,Ian D. Graham,Mark Tarnopolsky,Lauren Brady,Christine M. Armour,Michael Geraghty,Julie Richer,Sarah Sawyer,Matthew Lines,Saadet Mercimek-Andrews,Melissa T. Carter,Gail Graham,Peter Kannu,Joanna Lazier,Chumei Li,Ritu B. Aul,Tugce B. Balci,Nomazulu Dlamini,Lauren Badalato,Andrea Guerin,Jagdeep Walia,David Chitayat,Ronald Cohn,Hanna Faghfoury,Cynthia Forster-Gibson,Hernan Gonorazky,Eyal Grunebaum,Michal Inbar-Feigenberg,Natalya Karp,Chantal Morel,Alison Rusnak,Neal Sondheimer,Jodi Warman-Chardon,Priya T. Bhola,Danielle K. Bourque, Inara J. Chacon,Lauren Chad,Pranesh Chakraborty,Karen Chong,Asif Doja,Elaine Suk-Ying Goh,Maha Saleh,Beth K. Potter,Christian R. Marshall,David A. Dyment,Kristin Kernohan,Kym M. Boycott

CLINICAL GENETICS（2023）

Cited49Views0WOSBibtex

Contact Sites Between Endoplasmic Reticulum Sheets and Mitochondria Regulate Mitochondrial DNA Replication and Segregation

Hema Saranya Ilamathi,Sara Benhammouda,Amel Lounas, Khalid Al-Naemi,Justine Desrochers-Goyette,Matthew A. Lines,Francois J. Richard,Jackie Vogel,Marc Germain

ISCIENCEno. 7 (2023)

Cited11Views0WOSBibtex

Disruption and Deletion of the Proximal Part of TCF4 Are Associated with Mild Intellectual Disability: about Three New Patients

Julie Masson,Linda Pons,Tiffany Busa,Chantal Missirian,Matthew Lines,Helene Tevissen,Flavie Diguet,Pierre-Antoine Rollat-Farnier,Gaetan Lesca,Damien Sanlaville,Caroline Schluth-Bolard

European Journal of Medical Genetics（2022）

Cited4Views0WOSBibtex

Clinico‐radiological Features, Molecular Spectrum, and Identification of Prognostic Factors in Developmental and Epileptic Encephalopathy Due to Inosine Triphosphate Pyrophosphatase (itpase) Deficiency

Marcello Scala,Saskia B. Wortmann,Namik Kaya,Menno D. Stellingwerff,Angela Pistorio,Emma Glamuzina,Clara D. van Karnebeek,Cristina Skrypnyk,Katarzyna Iwanicka-Pronicka,Dorota Piekutowska-Abramczuk,Elzbieta Ciara,Frederic Tort,Beth Sheidley,Annapurna Poduri,Parul Jayakar,Anuj Jayakar,Jariya Upadia,Nicolette Walano,Tobias B. Haack,Holger Prokisch,Hesham Aldhalaan,Ehsan G. Karimiani,Yilmaz Yildiz,Ahmet C. Ceylan,Teresa Santiago-Sim,Amy Dameron,Hui Yang,Mehran B. Toosi,Farah Ashrafzadeh,Javad Akhondian,Shima Imannezhad,Hanieh S. Mirzadeh,Shazia Maqbool,Aisha Farid,Mohamed A. Al-Muhaizea,Meznah O. Alshwameen, Lama Aldowsari,Maysoon Alsagob, Ashwaq Alyousef,Rawan AlMass,Aljouhra AlHargan,Ali H. Alwadei,Maha M. AlRasheed,Dilek Colak,Hanan Alqudairy,Sameena Khan,Matthew A. Lines, M. Angeles Garcia Cazorla,Antonia Ribes,Eva Morava,Farah Bibi,Shahzad Haider,Matteo P. Ferla,Jenny C. Taylor,Hessa S. Alsaif,Abdulwahab Firdous,Mais Hashem,Chingiz Shashkin, Kairgali Koneev,Rauan Kaiyrzhanov,Stephanie Efthymiou,Queen Square Genomics,Thomas Schmitt-Mechelke,Andreas Ziegler,Mahmoud Y. Issa,Hasnaa M. Elbendary,Pasquale Striano,Fowzan S. Alkuraya,Maha S. Zaki,Joseph G. Gleeson,Tahsin Stefan Barakat,Jorgen Bierau,Marjo S. van der Knaap,Reza Maroofian,Henry Houlden

HUMAN MUTATION（2022）

Cited10Views0WOSBibtex

Mutation in Eftud2 Causes Craniofacial Defects in Mice Via Mis-Splicing of Mdm2 and Increased P53

Marie-Claude Beauchamp,Anissa Djedid,Eric Bareke,Fjodor Merkuri,Rachel Aber,Annie S. Tam,Matthew A. Lines,Kym M. Boycott,Peter C. Stirling,Jennifer L. Fish,Jacek Majewski,Loydie A. Jerome-Majewska

Human Molecular Genetics（2021）

Cited22Views0WOSBibtex

Mitochondrial fission is required for proper nucleoid distribution within mitochondrial networks

Hema Saranya Ilamathi,Mathieu Ouellet,Rasha Sabouny,Justine Desrochers-Goyette,Matthew A. Lines,Gerald Pfeffer,Timothy E. Shutt,Marc Germain

bioRxiv（2021）

Cited3Views0Bibtex

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