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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE. Ansar M, et al. Among authors: antonarakis se. Am J Hum Genet. 2019 Jun 6;104(6):1073-1087. doi: 10.1016/j.ajhg.2019.04.002. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079899 Free PMC article.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Prandini P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):252-63. doi: 10.1086/519248. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668376 Free PMC article.
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Hum Mutat. 2009 Sep;30(9):E866-79. doi: 10.1002/humu.21073. Hum Mutat. 2009. PMID: 19562714 Free PMC article.
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Borel C, Deutsch S, Letourneau A, Migliavacca E, Montgomery SB, Dimas AS, Vejnar CE, Attar H, Gagnebin M, Gehrig C, Falconnet E, Dupré Y, Dermitzakis ET, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Genome Res. 2011 Jan;21(1):68-73. doi: 10.1101/gr.109371.110. Epub 2010 Dec 8. Genome Res. 2011. PMID: 21147911 Free PMC article.
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE. Nikolaev SI, et al. Among authors: antonarakis se. Nat Genet. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026. Nat Genet. 2011. PMID: 22197931
656 results