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Author/Creator Lines, Matthew A.

2. Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. Issue 1 (20th November 2017)

Authors:
Balci, Tugce B.; Davila, Jorge; Lewis, Denice; Boafo, Addo; Sell, Erick; Richer, Julie; Nikkel, Sarah M.; Armour, Christine M.; Tomiak, Eva; Lines, Matthew A.; Sawyer, Sarah L.
Journal:
American journal of medical genetics
Issue:
Volume 177:Issue 1(2018)
Page Start:
101
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022)

Authors:
Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
403
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Issue 11 (23rd September 2018)

Authors:
Assoum, Mirna; Lines, Matthew A.; Elpeleg, Orly; Darmency, Véronique; Whiting, Sharon; Edvardson, Simon; Devinsky, Orrin; Heinzen, Erin; Hernan, Rebecca Rose; Antignac, Corinne; Deleuze, Jean‐François; Des Portes, Vincent; Bertholet‐Thomas, Aurélie; Belot, Alexandre; Geller, Eric; Lemesle, Martin...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2470
Record Type:
Journal Article
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5. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. (November 2019)

Authors:
Paik, Karen; Lines, Matthew A.; Chakraborty, Pranesh; Khangura, Sara D.; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigen...
Other Names:
collab.
Journal:
Canadian journal of neurological sciences
Issue:
Volume 46:Number 6(2019)
Page Start:
717
Record Type:
Journal Article
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6. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015)

Authors:
Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G...
Journal:
Human mutation
Issue:
Volume 37:Issue 2(2016)
Page Start:
148
Record Type:
Journal Article
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7. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Issue 6 (10th February 2022)

Authors:
Lines, Matthew A.; Goldenberg, Paula; Wong, Ashley; Srivastava, Siddharth; Bayat, Allan; Hove, Hanne; Karstensen, Helena Gásdal; Anyane‐Yeboa, Kwame; Liao, Jun; Jiang, Nan; May, Alison; Guzman, Edwin; Morleo, Manuela; D'Arrigo, Stefano; Ciaccio, Claudia; Pantaleoni, Chiara; Castello, Raffaele; Mc...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 6(2022)
Page Start:
1667
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. Issue 10 (12th June 2021)

Authors:
Benner, Anne; Alhaidan, Yazeid; Lines, Matthew A.; Brusgaard, Klaus; De Leon, Diva D.; Sparkes, Rebecca; Frederiksen, Anja L.; Christesen, Henrik T.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 10(2021)
Page Start:
2959
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗