Search

Author/Creator Innes, A.M.

1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015)

Authors:
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 4(2016)
Page Start:
501
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Issue 3 (22nd September 2015)

Authors:
Sawyer, S.L.; Hartley, T.; Dyment, D.A.; Beaulieu, C.L.; Schwartzentruber, J.; Smith, A.; Bedford, H.M.; Bernard, G.; Bernier, F.P.; Brais, B.; Bulman, D.E.; Warman Chardon, J.; Chitayat, D.; Deladoëy, J.; Fernandez, B.A.; Frosk, P.; Geraghty, M.T.; Gerull, B.; Gibson, W.; Gow, R.M.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 3(2016)
Page Start:
275
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Issue 1 (24th May 2016)

Authors:
Amos, J.S.; Huang, L.; Thevenon, J.; Kariminedjad, A.; Beaulieu, C.L.; Masurel‐Paulet, A.; Najmabadi, H.; Fattahi, Z.; Beheshtian, M.; Tonekaboni, S.H.; Tang, S.; Helbig, K.L.; Alcaraz, W.; Rivière, J.‐B.; Faivre, L.; Innes, A.M.; Lebel, R.R.; Boycott, K.M.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 1(2017)
Page Start:
92
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. (28th August 2014)

Authors:
Dyment, D.A.; Tétreault, M.; Beaulieu, C.L.; Hartley, T.; Ferreira, P.; Chardon, J.W.; Marcadier, J.; Sawyer, S.L.; Mosca, S.J.; Innes, A.M.; Parboosingh, J.S.; Bulman, D.E.; Schwartzentruber, J.; Majewski, J.; Tarnopolsky, M.; Boycott, K.M.; FORGE Canada Consortium; Care4Rare Canada
Journal:
Clinical genetics
Issue:
Volume 88:Number 1(2015:Jul.)
Page Start:
34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Issue 2 (12th December 2017)

Authors:
Hartley, T.; Wagner, J.D.; Warman‐Chardon, J.; Tétreault, M.; Brady, L.; Baker, S.; Tarnopolsky, M.; Bourque, P.R.; Parboosingh, J.S.; Smith, C.; McInnes, B.; Innes, A.M.; Bernier, F.; Curry, C.J.; Yoon, G.; Horvath, G.A.; Bareke, E.; Gillespie, M.; Majewski, J.; Bulman, D.E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 2(2018)
Page Start:
301
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing. Issue 3 (13th March 2017)

Authors:
Balci, T.B.; Hartley, T.; Xi, Y.; Dyment, D.A.; Beaulieu, C.L.; Bernier, F.P.; Dupuis, L.; Horvath, G.A.; Mendoza‐Londono, R.; Prasad, C.; Richer, J.; Yang, X.‐R.; Armour, C.M.; Bareke, E.; Fernandez, B.A.; McMillan, H.J.; Lamont, R.E.; Majewski, J.; Parboosingh, J.S.; Prasad, A.N.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 3(2017)
Page Start:
281
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗