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Year Number of Results
2010 3
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15 results

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Page 1
Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.
Machado-Paula LA, Romanowska J, Lie RT, Hovey L, Doolittle B, Awotoye W, Dunlay L, Xie XJ, Zeng E, Butali A, Marazita ML, Murray JC, Moreno-Uribe LM, Petrin AL. Machado-Paula LA, et al. Among authors: petrin al. medRxiv [Preprint]. 2025 Feb 12:2025.02.09.25321494. doi: 10.1101/2025.02.09.25321494. medRxiv. 2025. PMID: 39990564 Free PMC article. Preprint.
DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.
Seaberg A, Awotoye W, Qian F, Machado-Paula LA, Dunlay L, Butali A, Murray J, Moreno-Uribe L, Petrin AL. Seaberg A, et al. Among authors: petrin al. Cleft Palate Craniofac J. 2024 Aug 7:10556656241269495. doi: 10.1177/10556656241269495. Online ahead of print. Cleft Palate Craniofac J. 2024. PMID: 39109995
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray J, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM. Petrin AL, et al. medRxiv [Preprint]. 2024 Jul 15:2024.02.07.24301824. doi: 10.1101/2024.02.07.24301824. medRxiv. 2024. PMID: 38370836 Free PMC article. Preprint.
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray JC, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM. Petrin AL, et al. Cleft Palate Craniofac J. 2025 Jan 17:10556656241306202. doi: 10.1177/10556656241306202. Online ahead of print. Cleft Palate Craniofac J. 2025. PMID: 39819101
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Saadi I, et al. Among authors: petrin al. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21703590 Free PMC article.
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Among authors: petrin al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.
Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in FGF20 modified by differential methylation upstream of ZFP57.
Awotoye W, Machado-Paula LA, Hovey L, Keen H, Chimenti M, Darbro B, Dabdoub S, Thomas JC, Murray J, Venugopalan SR, Moreno-Uribe L, Petrin AL. Awotoye W, et al. Among authors: petrin al. medRxiv [Preprint]. 2024 Nov 18:2024.11.16.24317351. doi: 10.1101/2024.11.16.24317351. medRxiv. 2024. PMID: 39606391 Free PMC article. Preprint.
15 results