Finnell/CabreraLab

Publications

 Finnell/Cabrera Birth Defects Laboratory
2021    2020    2019     2018    2017    2016    2015    2014     2013    2012    2011    2010    2009
2021

 

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, Suhre K, Mason CE, Elemento O, Finnell RH, Ross ME. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2106844118. doi: 10.1073/pnas.2106844118. PMID: 34916285

 

Kim SE, Robles-Lopez K, Cao X, Liu K, Chothani PJ, Bhavani N, Rahman L, Mukhopadhyay S, Wlodarczyk BJ, Finnell RH. Wnt1 Lineage Specific Deletion of Gpr161 Results in Embryonic Midbrain Malformation and Failure of Craniofacial Skeletal Development. Front Genet. 2021 Nov 23;12:761418. doi: 10.3389/fgene.2021.761418. PMID: 34887903

 

Wolujewicz P, Steele JW, Kaltschmidt JA, Finnell RH, Ross ME. Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back. Genesis. 2021 Nov;59(11):e23459. doi: 10.1002/dvg.23459. Epub 2021 Oct 29. PMID: 34713546

 

Fonteles CS, Finnell RH, Lei Y, Zurita-Jimenez ME, Monteiro AJ, George TM, Harshbarger RJ. De novo ALX4 variant detected in child with non-syndromic craniosynostosis. Braz J Med Biol Res. 2021 Sep 24;54(11):e11396. doi: 10.1590/1414-431X2021e11396. PMID: 34586326

 

Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. Am J Med Genet A. 2021 Oct;185(10):3028-3041. doi: 10.1002/ajmg.a.62439. Epub 2021 Aug 5. PMID: 34355505

 

Finnell RH, Caiaffa CD, Kim SE, Lei Y, Steele J, Cao X, Tukeman G, Lin YL, Cabrera RM, Wlodarczyk BJ. Gene Environment Interactions in the Etiology of Neural Tube Defects. Front Genet. 2021 May 10;12:659612. doi: 10.3389/fgene.2021.659612. PMID: 34040637

 

Parodi C, Di Fede E, Peron A, Viganò I, Grazioli P, Castiglioni S, Finnell RH, Gervasini C, Vignoli A, Massa V. Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies. Front Cell Dev Biol. 2021 Apr 20;9:654467. doi: 10.3389/fcell.2021.654467. PMID: 33959609

 

Parodi C, Di Fede E, Peron A, Viganò I, Grazioli P, Castiglioni S, Finnell RH, Gervasini C, Vignoli A, Massa V. Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies. Front Cell Dev Biol. 2021 Apr 20;9:654467. doi: 10.3389/fcell.2021.654467. PMID: 33959609

 

Wu Y, Peng S, Finnell RH, Zheng Y. Organoids as a new model system to study neural tube defects. FASEB J. 2021 Apr;35(4):e21545. doi: 10.1096/fj.202002348R. PMID: 33729606

 

Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, Ross ME. Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida. Genet Med. 2021 Jul;23(7):1211-1218. doi: 10.1038/s41436-021-01126-9. Epub 2021 Mar 8. PMID: 33686259

 

Patel J, Bircan E, Tang X, Orloff M, Hobbs CA, Browne ML, Botto LD, Finnell RH, Jenkins MM, Olshan A, Romitti PA, Shaw GM, Werler MM, Li J, Nembhard WN; National Birth Defects Prevention Study. Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS Genet. 2021 Mar 8;17(3):e1009413. doi: 10.1371/journal.pgen.1009413. PMID: 33684136

 

Tian T, Lai X, Xiang K, Han X, Yin S, Cabrera RM, Steele JW, Lei Y, Cao X, Finnell RH, Wang L, Ren A. Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects. Epigenetics. 2021 Feb 17:1-14. doi: 10.1080/15592294.2021.1878725. Epub ahead of print. PMID: 33491544

Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H, Parker M, Lin Y, Steele JW, Han X, Ramaekers VT, Steinfeld R, Finnell RH, Lei Y. CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression. J Med Genet. 2021 Jul;58(7):484-494. doi: 10.1136/jmedgenet-2020-106987. PMID: 32820034

 

Lei Y, Ludorf KL, Yu X, Benjamin RH, Gu X, Lin Y, Finnell RH, Mitchell LE, Musfee FI, Malik S, Canfield MA, Morrison AC, Hobbs CA, Van Zutphen AR, Fisher S, Agopian AJ. Maternal Hypertension-Related Genotypes and Congenital Heart Defects. Am J Hypertens. 2021 Feb 18;34(1):82-91. doi: 10.1093/ajh/hpaa116. PMID: 32710738

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