Haghighi A - Search Results

1

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

Haghighi A, Alvandi Z, Nilipour Y, Haghighi A, Kornreich R, Nafissi S, Desnick RJ. Haghighi A, et al. Eur J Hum Genet. 2023 Nov;31(11):1237-1250. doi: 10.1038/s41431-023-01378-w. Epub 2023 Jul 18. Eur J Hum Genet. 2023. PMID: 37460656

2

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ. Haghighi A, et al. J Hum Genet. 2011 Sep;56(9):682-4. doi: 10.1038/jhg.2011.78. Epub 2011 Jul 28. J Hum Genet. 2011. PMID: 21796138

3

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Haghighi A, Haghighi A, Setoodeh A, Saleh-Gohari N, Astuti D, Barrett TG. Haghighi A, et al. Eur J Hum Genet. 2013 Mar;21(3):347-51. doi: 10.1038/ejhg.2012.154. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781099 Free PMC article.

4

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.

Haghighi A, Razzaghy-Azar M, Talea A, Sadeghian M, Ellard S, Haghighi A. Haghighi A, et al. Eur J Med Genet. 2012 Nov;55(11):620-4. doi: 10.1016/j.ejmg.2012.07.011. Epub 2012 Aug 1. Eur J Med Genet. 2012. PMID: 22902344 Free PMC article.

5

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A. Setoodeh A, et al. Among authors: haghighi a. Gene. 2013 May 1;519(2):295-7. doi: 10.1016/j.gene.2013.02.008. Epub 2013 Feb 20. Gene. 2013. PMID: 23454484 Free PMC article.

6

Genetics of GNE myopathy in the non-Jewish Persian population.

Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R. Haghighi A, et al. Eur J Hum Genet. 2016 Feb;24(2):243-51. doi: 10.1038/ejhg.2015.78. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966635 Free PMC article.

7

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W. Haghighi A, et al. PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014. PLoS One. 2014. PMID: 25392994 Free PMC article.

8

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, Cimbalistiene L, Collins F, Chopra M, Al-Sinani S, Dastmalchian S, de Silva DC, Bakhti H, Garg A, Hilbert P. Haghighi A, et al. Clin Genet. 2016 Apr;89(4):434-441. doi: 10.1111/cge.12623. Epub 2015 Jul 20. Clin Genet. 2016. PMID: 26072926 Free PMC article.

9

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.

Haghighi A, Borhany M, Ghazi A, Edwards N, Tabaksert A, Haghighi A, Fatima N, Shamsi TS, Sayer JA. Haghighi A, et al. Clin Genet. 2016 Feb;89(2):187-92. doi: 10.1111/cge.12622. Epub 2015 Jul 15. Clin Genet. 2016. PMID: 26096001 Free PMC article.

10

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco E. Habeb AM, et al. Among authors: haghighi a. Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15. Diabetologia. 2018. PMID: 29450569 Free PMC article.

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