Barseghyan H - Search Results

1

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.

Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A. Sahajpal NS, et al. Among authors: barseghyan h. Genes (Basel). 2021 Mar 11;12(3):398. doi: 10.3390/genes12030398. Genes (Basel). 2021. PMID: 33799648 Free PMC article. Review.

2

Long-read single-molecule maps of the functional methylome.

Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Sharim H, et al. Among authors: barseghyan h. Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7. Genome Res. 2019. PMID: 30846530 Free PMC article.

3

nanotatoR: a tool for enhanced annotation of genomic structural variants.

Bhattacharya S, Barseghyan H, Délot EC, Vilain E. Bhattacharya S, et al. Among authors: barseghyan h. BMC Genomics. 2021 Jan 6;22(1):10. doi: 10.1186/s12864-020-07182-w. BMC Genomics. 2021. PMID: 33407088 Free PMC article.

4

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A; Undiagnosed Diseases Network; Vilain E, Shashi V. Cope H, et al. Among authors: barseghyan h. Mol Genet Genomic Med. 2021 Jul;9(7):e1665. doi: 10.1002/mgg3.1665. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955715 Free PMC article.

5

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.

Barseghyan H, Pang AWC, Clifford B, Serrano MA, Chaubey A, Hastie AR. Barseghyan H, et al. Genes (Basel). 2023 Sep 26;14(10):1868. doi: 10.3390/genes14101868. Genes (Basel). 2023. PMID: 37895217 Free PMC article.

6

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. Barseghyan H, et al. Genome Med. 2017 Oct 25;9(1):90. doi: 10.1186/s13073-017-0479-0. Genome Med. 2017. PMID: 29070057 Free PMC article.

7

Translating genomics to the clinical diagnosis of disorders/differences of sex development.

Parivesh A, Barseghyan H, Délot E, Vilain E. Parivesh A, et al. Among authors: barseghyan h. Curr Top Dev Biol. 2019;134:317-375. doi: 10.1016/bs.ctdb.2019.01.005. Epub 2019 Mar 20. Curr Top Dev Biol. 2019. PMID: 30999980 Free PMC article. Review.

8

New technologies to uncover the molecular basis of disorders of sex development.

Barseghyan H, Délot EC, Vilain E. Barseghyan H, et al. Mol Cell Endocrinol. 2018 Jun 15;468:60-69. doi: 10.1016/j.mce.2018.04.003. Epub 2018 Apr 13. Mol Cell Endocrinol. 2018. PMID: 29655603 Free PMC article. Review.

9

Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.

Bornhorst M, Eze A Jr, Bhattacharya S, Putnam E, Almira-Suarez MI, Rossi C, Kambhampati M, Almalvez M, Barseghyan M, Del Risco N, Dotson D, Turner J, Myseros JS, Vilain E, Packer RJ, Nazarian J, Rood B, Barseghyan H. Bornhorst M, et al. Among authors: barseghyan h. J Pathol. 2023 Jul;260(3):329-338. doi: 10.1002/path.6085. Epub 2023 May 19. J Pathol. 2023. PMID: 37203791

10

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: barseghyan h. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.

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