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Author/Creator Boycott, Kym M

1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019)

Authors:
Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; ...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 12(2019)
Page Start:
e4
Record Type:
Journal Article
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2. Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing. (21st April 2015)

Authors:
Liu, Hao; Sawyer, Sarah L; Gos, Monika; Grynspan, David; Issa, Kheirie; Ramphal, Raveena; Rotaru, Carmen; Consortium, FORGE Canada; Majewski, Jacek; Boycott, Kym M; Graham, Gail; Bromwich, Matthew
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1337
Record Type:
Journal Article
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3. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Issue 4 (20th September 2021)

Authors:
Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Del Bigio, Marc R; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 4(2022)
Page Start:
614
Record Type:
Journal Article
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4. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Issue 21 (11th February 2022)

Authors:
Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, K...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 21(2022)
Page Start:
3597
Record Type:
Journal Article
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5. Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome. Issue 4 (1st August 2020)

Authors:
Dyment, David A; Schock, Sarah C; Deloughery, Kristen; Tran, Minh Hieu; Ure, Kerstin; Nutter, Lauryl M J; Creighton, Amie; Yuan, Julie; Banderali, Umberto; Comas, Tanya; Baumann, Ewa; Jezierski, Anna; Boycott, Kym M; Mackenzie, Alex E; Martina, Marzia
Journal:
Genetics
Issue:
Volume 215:Issue 4(2020)
Page Start:
1055
Record Type:
Journal Article
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9. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Issue 9 (18th February 2021)

Authors:
Beauchamp, Marie-Claude; Djedid, Anissa; Bareke, Eric; Merkuri, Fjodor; Aber, Rachel; Tam, Annie S; Lines, Matthew A; Boycott, Kym M; Stirling, Peter C; Fish, Jennifer L; Majewski, Jacek; Jerome-Majewska, Loydie A
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 9(2021)
Page Start:
739
Record Type:
Journal Article
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10. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Issue 7 (4th April 2014)

Authors:
Smith, Amanda C; Mears, Alan J; Bunker, Ryan; Ahmed, Afsana; MacKenzie, Malcolm; Schwartzentruber, Jeremy A; Beaulieu, Chandree L; Ferretti, Emanuela; Majewski, Jacek; Bulman, Dennis E; Celik, Fatma Cakmak; Boycott, Kym M; Graham, Gail E
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 7(2014)
Page Start:
470
Record Type:
Journal Article
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