Narkis G - Search Results

1

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, Hadar N, Eskin-Schwartz M, Kanengisser-Pines B, Narkis G, Abramsky R, Shany E, Rutter GA, Marks K, Birk OS. Dolgin V, et al. Among authors: narkis g. JIMD Rep. 2025 Jan 9;66(1):e12465. doi: 10.1002/jmd2.12465. eCollection 2025 Jan. JIMD Rep. 2025. PMID: 39790720 Free PMC article.

2

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS. Perez Y, et al. Among authors: narkis g. Biomed Res Int. 2017;2017:3470234. doi: 10.1155/2017/3470234. Epub 2017 Oct 8. Biomed Res Int. 2017. PMID: 29119105 Free PMC article.

3

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS. Hadar N, et al. Among authors: narkis g. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411

4

Genetics of arthrogryposis: linkage analysis approach.

Narkis G, Landau D, Manor E, Ofir R, Birk OS. Narkis G, et al. Clin Orthop Relat Res. 2007 Mar;456:30-5. doi: 10.1097/BLO.0b013e3180312bee. Clin Orthop Relat Res. 2007. PMID: 17195815

5

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Markus B, et al. Among authors: narkis g. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22610851

6

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

Hadar N, Narkis G, Amar S, Varnavsky M, Palti GC, Safran A, Birk OS. Hadar N, et al. Among authors: narkis g. Eur J Hum Genet. 2023 Jul;31(7):738-743. doi: 10.1038/s41431-023-01352-6. Epub 2023 Apr 13. Eur J Hum Genet. 2023. PMID: 37055538 Free PMC article.

7

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: narkis g. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

8

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Narkis G, et al. Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701904 Free PMC article.

9

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

10

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS. Barel O, et al. Among authors: narkis g. Am J Hum Genet. 2008 May;82(5):1211-6. doi: 10.1016/j.ajhg.2008.03.020. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439546 Free PMC article.

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