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Whole-exome sequencing study of hypospadias.
Chen Z, Lei Y, Finnell RH, Ding Y, Su Z, Wang Y, Xie H, Chen F. Chen Z, et al. Among authors: finnell rh. iScience. 2023 Apr 12;26(5):106663. doi: 10.1016/j.isci.2023.106663. eCollection 2023 May 19. iScience. 2023. PMID: 37168556 Free PMC article.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium; Finnell RH, Ross ME, Copp AJ, Greene NDE. Crane-Smith Z, et al. Among authors: finnell rh. Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. Hum Mol Genet. 2023. PMID: 37364051 Free PMC article.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
de Koning MA, Pimienta Ramirez PA, Haak MC, Han X, Ruiterkamp-Versteeg MH, de Leeuw N, Schatz UA, Shoukier M, Rieger-Fackeldey E, Ortiz JU, van Duinen SG, Klein WM, Witlox RSGM, Finnell RH, Santen GWE, Lei Y, Suerink M. de Koning MA, et al. Among authors: finnell rh. J Med Genet. 2024 Feb 22:jmg-2023-109698. doi: 10.1136/jmg-2023-109698. Online ahead of print. J Med Genet. 2024. PMID: 38272662
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: finnell rh. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: finnell rh. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant.
Ambekar YS, Caiaffa CD, Wlodarczyk BJ, Singh M, Schill AW, Steele JW, Zhang J, Aglyamov SR, Scarcelli G, Finnell RH, Larin KV. Ambekar YS, et al. Among authors: finnell rh. Development. 2024 May 15;151(10):dev202475. doi: 10.1242/dev.202475. Epub 2024 May 17. Development. 2024. PMID: 38682273
388 results