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A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY, Tsai IJ, Chiu PC, Ascher DB, Chien YH, Huang YH, Lin YL, Hwu WL, Lee NC. Lai CY, et al. Among authors: ascher db. NPJ Genom Med. 2021 Oct 22;6(1):89. doi: 10.1038/s41525-021-00252-2. NPJ Genom Med. 2021. PMID: 34686677 Free PMC article.
Familial STAG2 germline mutation defines a new human cohesinopathy.
Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ. Soardi FC, et al. Among authors: ascher db. NPJ Genom Med. 2017 Mar 20;2:7. doi: 10.1038/s41525-017-0009-4. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263825 Free PMC article.
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Among authors: ascher db. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER. Casey RT, et al. Among authors: ascher db. Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546994 Free PMC article.
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
182 results