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53 results

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Page 1
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M. Chen R, et al. Among authors: aref eshghi e. Hum Mutat. 2022 Dec;43(12):1837-1843. doi: 10.1002/humu.24443. Epub 2022 Aug 2. Hum Mutat. 2022. PMID: 35870179
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.
Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Luo M, Conlin LK, Dain AS, Zelley K, Baldino S, Balamuth N, MacFarland S, Li MM, Zhong Y. Xu F, et al. Among authors: aref eshghi e. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006181. doi: 10.1101/mcs.a006181. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35232817 Free PMC article.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Among authors: aref eshghi e. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2021 Jun 3;108(6):1161-1163. doi: 10.1016/j.ajhg.2021.04.022. Am J Hum Genet. 2021. PMID: 34087165 Free PMC article. No abstract available.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: aref eshghi e. Genet Med. 2021 Nov;23(11):2228. doi: 10.1038/s41436-021-01130-z. Genet Med. 2021. PMID: 33637969 Free PMC article. No abstract available.
53 results