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Author/Creator Lamont, Ryan E.

1. A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. Issue 3 (27th September 2016)

Authors:
Lamont, Ryan E.; Beaulieu, Chandree L.; Bernier, Francois P.; Sparkes, Rebecca; Innes, A. Micheil; Jackel‐Cram, Candice; Ober, Carole; Parboosingh, Jillian S.; Lemire, Edmond G.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 3(2017)
Page Start:
596
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. Issue 3 (22nd December 2015)

Authors:
Smith, Christopher; Lamont, Ryan E.; Wade, Andrew; Bernier, Francois P.; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
760
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Issue 8 (11th July 2019)

Authors:
Punetha, Jaya; Karaca, Ender; Gezdirici, Alper; Lamont, Ryan E.; Pehlivan, Davut; Marafi, Dana; Appendino, Juan P.; Hunter, Jill V.; Akdemir, Zeynep C.; Fatih, Jawid M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Innes, A. Micheil; Posey, Jennifer E.; Lupski, James R.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 8(2019)
Page Start:
1395
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders. Issue 11 (23rd September 2018)

Authors:
Eaton, Alison; Bernier, Francois P.; Goedhart, Caitlin; Caluseriu, Oana; Lamont, Ryan E.; Boycott, Kym M.; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2487
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites. Issue 5 (28th March 2017)

Authors:
Lamont, Ryan E.; Beaulieu, Chandree L.; Bernier, Francois P.; Sparkes, Rebecca; Innes, A. Micheil; Jackel‐Cram, Candice; Ober, Carole; Parboosingh, Jillian S.; Lemire, Edmond G.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1452
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗