Hegele RA - Search Results

1

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Yang JH, et al. Among authors: hegele ra. Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 35026043 Free PMC article.

2

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

Farhan SM, Hegele RA. Farhan SM, et al. Among authors: hegele ra. Can J Cardiol. 2013 Jan;29(1):18-22. doi: 10.1016/j.cjca.2012.10.010. Epub 2012 Nov 28. Can J Cardiol. 2013. PMID: 23200093 Review.

3

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

Farhan SM, Hegele RA. Farhan SM, et al. Among authors: hegele ra. Can J Cardiol. 2014 Feb;30(2):152-4. doi: 10.1016/j.cjca.2013.12.024. Epub 2013 Dec 31. Can J Cardiol. 2014. PMID: 24461915 No abstract available.

4

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: hegele ra. 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.

5

Exome sequencing: new insights into lipoprotein disorders.

Farhan SM, Hegele RA. Farhan SM, et al. Among authors: hegele ra. Curr Cardiol Rep. 2014 Jul;16(7):507. doi: 10.1007/s11886-014-0507-2. Curr Cardiol Rep. 2014. PMID: 24893940 Review.

6

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: hegele ra. Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24. Epilepsia. 2014. PMID: 25060828 Free article.

7

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. Farhan SM, et al. Among authors: hegele ra. Can J Cardiol. 2014 Dec;30(12):1649-54. doi: 10.1016/j.cjca.2014.09.007. Epub 2014 Sep 16. Can J Cardiol. 2014. PMID: 25475467

8

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: hegele ra. 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

9

Trial Watch: Antisenses working overtime in lipids.

Farhan SM, Hegele RA. Farhan SM, et al. Among authors: hegele ra. Nat Rev Endocrinol. 2015 Oct;11(10):574-6. doi: 10.1038/nrendo.2015.146. Epub 2015 Aug 25. Nat Rev Endocrinol. 2015. PMID: 26303603 No abstract available.

10

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. Badalato L, et al. Among authors: hegele ra. Am J Med Genet A. 2017 Jan;173(1):183-189. doi: 10.1002/ajmg.a.38010. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 27991736

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

934 results

Search Page