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FORGE Canada Consortium
53  results:
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1

Morphogenetic defects underlie Superior Coloboma, a newly i..:

Hocking, Jennifer C. ; Famulski, Jakub K. ; Yoon, Kevin H....
PLOS Genetics.  14 (2018)  3 - p. e1007246 , 2018
Link: https://doi.org/10.1371/..
 
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2

P1601Mutations in ILK (integrin linked kinase) are associat..:

Brodehl, A. ; Williams, T. ; Rezazadeh, S....
European Heart Journal.  38 (2017)  suppl_1 - p. , 2017
Link: https://doi.org/10.1093/..
 
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3

Expansion of the clinical phenotype of the distal 10q26.3 d..:

Lacaria, Melanie ; Srour, Myriam ; Michaud, Jacques L....
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1611-1619 , 2017
Link: https://doi.org/10.1002/..
 
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4

Whole‐exome sequencing is a valuable diagnostic tool for in..:

Hartley, T. ; Wagner, J.D. ; Warman‐Chardon, J....
Clinical Genetics.  93 (2017)  2 - p. 301-309 , 2017
Link: https://doi.org/10.1111/..
 
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5

Identification of a novel synaptic protein, TMTC3, involved..:

Farhan, Sali M K ; Nixon, Kevin C J ; Everest, Michelle...
Human Molecular Genetics.  26 (2017)  21 - p. 4278-4289 , 2017
Link: https://doi.org/10.1093/..
 
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6

Compound heterozygous TRPV4 mutations in two siblings with ..:

Thibodeau, My Linh ; Peters, Colin H. ; Townsend, Katelin N....
American Journal of Medical Genetics Part A.  173 (2017)  11 - p. 3087-3092 , 2017
Link: https://doi.org/10.1002/..
 
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7

Debunking Occam's razor: Diagnosing multiple genetic diseas..:

Balci, T.B. ; Hartley, T. ; Xi, Y....
Clinical Genetics.  92 (2017)  3 - p. 281-289 , 2017
Link: https://doi.org/10.1111/..
 
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8

Syndrome disintegration: Exome sequencing reveals that Fitz..:

Armour, Christine M. ; Smith, Amanda ; Hartley, Taila...
American Journal of Medical Genetics Part A.  170 (2016)  7 - p. 1820-1825 , 2016
Link: https://doi.org/10.1002/..
 
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9

A novel multisystem disease associated with recessive mutat..:

Nowaczyk, Małgorzata J. M. ; Huang, Lijia ; Tarnopolsky, Mark...
American Journal of Medical Genetics Part A.  173 (2016)  1 - p. 126-134 , 2016
Link: https://doi.org/10.1002/..
 
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10

Concordance between whole‐exome sequencing and clinical San..:

Hamilton, Alison ; Tétreault, Martine ; Dyment, David A....
Molecular Genetics & Genomic Medicine.  4 (2016)  5 - p. 504-512 , 2016
Link: https://doi.org/10.1002/..
 
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11

Mutations inFLNCare Associated with Familial Restrictive Ca..:

Brodehl, Andreas ; Ferrier, Raechel A. ; Hamilton, Sara J....
Human Mutation.  37 (2016)  3 - p. 269-279 , 2016
Link: https://doi.org/10.1002/..
 
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12

LIMS2 mutations are associated with a novel muscular dystro..:

Chardon, Jodi Warman ; Smith, A.C. ; Woulfe, J....
Clinical Genetics.  88 (2015)  6 - p. 558-564 , 2015
Link: https://doi.org/10.1111/..
 
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13

A novel CCBE1 mutation leading to a mild form of hennekam s..:

FORGE Canada Consortium ; Frosk, Patrick ; Chodirker, Bernard...
BMC Medical Genetics.  16 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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14

Mutations in SGOL1 cause a novel cohesinopathy affecting he..:

FORGE Canada Consortium ; Chetaille, Philippe ; Preuss, Christoph...
Nature Genetics.  46 (2014)  11 - p. 1245-1249 , 2014
Link: https://doi.org/10.1038/..
 
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15

Linkage analysis and exome sequencing identify a novel muta..:

Farhan, Sali M. K. ; Murphy, Lisa M. ; Robinson, John F....
Epilepsia.  55 (2014)  9 - p. , 2014
Link: https://doi.org/10.1111/..
 
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