Rupar CA - Search Results

1

Amish, mennonite, and hutterite genetic disorder database.

Payne M, Rupar CA, Siu GM, Siu VM. Payne M, et al. Among authors: rupar ca. Paediatr Child Health. 2011 Mar;16(3):e23-4. doi: 10.1093/pch/16.3.e23. Paediatr Child Health. 2011. PMID: 22379385 Free PMC article. No abstract available.

2

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

Rupar CA, Matsell D, Surry S, Siu V. Rupar CA, et al. J Med Genet. 2001 Sep;38(9):615-6. doi: 10.1136/jmg.38.9.615. J Med Genet. 2001. PMID: 11565547 Free PMC article. No abstract available.

3

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Among authors: rupar ca. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

4

Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.

Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA. Lahiry P, et al. Among authors: rupar ca. PLoS One. 2011;6(9):e25400. doi: 10.1371/journal.pone.0025400. Epub 2011 Sep 27. PLoS One. 2011. PMID: 21980446 Free PMC article.

5

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. Loucks C, et al. Among authors: rupar ca. Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495976 Free PMC article. No abstract available.

6

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. Lahiry P, et al. Among authors: rupar ca. Orphanet J Rare Dis. 2013 Aug 17;8:126. doi: 10.1186/1750-1172-8-126. Orphanet J Rare Dis. 2013. PMID: 23957953 Free PMC article.

7

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. Farhan SM, et al. Among authors: rupar ca. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. doi: 10.1002/mgg3.46. Epub 2013 Nov 18. Mol Genet Genomic Med. 2014. PMID: 24498631 Free PMC article.

8

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium; Hegele RA. Farhan SM, et al. Among authors: rupar ca. Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24. Epilepsia. 2014. PMID: 25060828 Free article.

9

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Ferrand A, Siu VM, Rupar CA, Napier MP, Al-Dirbashi OY, Chakraborty P, Prasad C. Ferrand A, et al. Among authors: rupar ca. JIMD Rep. 2015;18:69-77. doi: 10.1007/8904_2014_351. Epub 2014 Oct 12. JIMD Rep. 2015. PMID: 25308559 Free PMC article.

10

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE Canada Consortium; Hegele RA. Farhan SM, et al. Among authors: rupar ca. J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5. J Med Genet. 2015. PMID: 26246518

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