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Long-read single-molecule maps of the functional methylome.
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.
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. Among authors: almalvez m.
Genome Med. 2017 Oct 25;9(1):90. doi: 10.1186/s13073-017-0479-0.
Genome Med. 2017.
PMID: 29070057
Free PMC article.
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Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.
Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E.
Barseghyan H, et al. Among authors: almalvez m.
Biol Sex Differ. 2018 Jan 30;9(1):8. doi: 10.1186/s13293-018-0167-9.
Biol Sex Differ. 2018.
PMID: 29378665
Free PMC article.
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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: almalvez m.
J Pathol. 2023 Jul;260(3):329-338. doi: 10.1002/path.6085. Epub 2023 May 19.
J Pathol. 2023.
PMID: 37203791
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Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.
Kocher K, Bhattacharya S, Niforatos-Andescavage N, Almalvez M, Henderson D, Vilain E, Limperopoulos C, Délot EC.
Kocher K, et al. Among authors: almalvez m.
BMC Med Genomics. 2023 Oct 30;16(1):268. doi: 10.1186/s12920-023-01707-4.
BMC Med Genomics. 2023.
PMID: 37899449
Free PMC article.
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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.
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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