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Items: 17

1.

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.

Dilliott AA, Farhan SMK, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Lang A, Tartaglia C, Finger E, Zinman L, Turnbull J, Freedman M, Swartz R, Black SE, Hegele RA.

J Vis Exp. 2018 Apr 4;(134). doi: 10.3791/57266.

2.

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.

Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):75-85. doi: 10.1002/ajmg.b.32606. Epub 2017 Oct 28.

PMID:
29080331
3.

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium, Poulter MO, Hegele RA, Kramer JM.

Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316.

4.

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion.

Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ.

Neurol Genet. 2017 Sep 22;3(5):e190. doi: 10.1212/NXG.0000000000000190. eCollection 2017 Oct. No abstract available.

5.

The Ontario Neurodegenerative Disease Research Initiative (ONDRI).

Farhan SM, Bartha R, Black SE, Corbett D, Finger E, Freedman M, Greenberg B, Grimes DA, Hegele RA, Hudson C, Kleinstiver PW, Lang AE, Masellis M, McIlroy WE, McLaughlin PM, Montero-Odasso M, Munoz DG, Munoz DP, Strother S, Swartz RH, Symons S, Tartaglia MC, Zinman L; ONDRI Investigators, Strong MJ.

Can J Neurol Sci. 2017 Mar;44(2):196-202. doi: 10.1017/cjn.2016.415. Epub 2016 Dec 22.

PMID:
28003035
6.

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

Badalato L, Farhan SM, Dilliott AA; Care4Rare Canada Consortium, Bulman DE, Hegele RA, Goobie SL.

Am J Med Genet A. 2017 Jan;173(1):183-189. doi: 10.1002/ajmg.a.38010. Epub 2016 Nov 7.

PMID:
27991736
7.

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.

Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA; ONDRI Investigators.

NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016.

8.

Trial Watch: Antisenses working overtime in lipids.

Farhan SM, Hegele RA.

Nat Rev Endocrinol. 2015 Oct;11(10):574-6. doi: 10.1038/nrendo.2015.146. Epub 2015 Aug 25. No abstract available.

PMID:
26303603
9.

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.

J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5.

PMID:
26246518
10.

Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways.

Farhan SM.

Clin Genet. 2015 Oct;88(4):339-40. doi: 10.1111/cge.12624. Epub 2015 Jul 7. No abstract available.

PMID:
26072952
11.

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.

Farhan SM, Robinson JF, McIntyre AD, Marrosu MG, Ticca AF, Loddo S, Carboni N, Brancati F, Hegele RA.

Can J Cardiol. 2014 Dec;30(12):1649-54. doi: 10.1016/j.cjca.2014.09.007. Epub 2014 Sep 16.

PMID:
25475467
12.

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.

Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24.

13.

Exome sequencing: new insights into lipoprotein disorders.

Farhan SM, Hegele RA.

Curr Cardiol Rep. 2014 Jul;16(7):507. doi: 10.1007/s11886-014-0507-2. Review.

PMID:
24893940
14.

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.

Mol Genet Genomic Med. 2014 Jan;2(1):73-80. doi: 10.1002/mgg3.46. Epub 2013 Nov 18.

15.

Sequencing: the next generation--what is the role of whole-exome sequencing in the diagnosis of familial cardiovascular diseases?

Farhan SM, Hegele RA.

Can J Cardiol. 2014 Feb;30(2):152-4. doi: 10.1016/j.cjca.2013.12.024. Epub 2013 Dec 31. No abstract available.

PMID:
24461915
16.

Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease.

Farhan SM, Hegele RA.

Can J Cardiol. 2013 Jan;29(1):18-22. doi: 10.1016/j.cjca.2012.10.010. Epub 2012 Nov 28. Review.

PMID:
23200093
17.

The effect of intra-abomasal infusions of glucose or casein on milk secretion in Saanen goats receiving a low-protein diet.

Farhan SM, Thomas PC.

Proc Nutr Soc. 1977 Sep;36(2):57A. No abstract available.

PMID:
905293

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