Publications

Found 10 results
Author Title [ Type(Desc)] Year
Filters: Author is Finnell, Richard H  [Clear All Filters]
Journal Article
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAndrea Pim, Cabrera RM, Lin YLinda, Wlodarczyk BJ, Shaw GM et al..  2022.  CIC missense variants contribute to susceptibility for spina bifida.. Hum Mutat.
Kim S-E, Lei Y, Hwang S-H, Wlodarczyk BJ, Mukhopadhyay S, Shaw GM, M Ross E, Finnell RH.  2018.  Dominant negative GPR161 rare variants are risk factors of human spina bifida.. Hum Mol Genet.
Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E.  2021.  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.
M Ross E, Mason CE, Finnell RH.  2017.  Genomic approaches to the assessment of human spina bifida risk.. Birth Defects Res. 109(2):120-128.
Cao X, Tian T, Steele JW, Cabrera RM, Aguiar-Pulido V, Wadhwa S, Bhavani N, Bi P, Gargurevich NH, Hoffman EN et al..  2020.  Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.. Hum Mutat.
Akimova D, Wlodarczyk BJ, Lin Y, M Ross E, Finnell RH, Chen Q, Gross SS.  2017.  Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.. Birth Defects Res. 109(2):106-119.
V RPardo, Finnell RH, M Ross E, Alarc√≥n P, Suazo J.  2024.  Neural tube defects and epigenetics: role of histone post-translational histone modifications.. Epigenomics.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA et al..  2023.  A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.. Hum Mol Genet. 32(17):2681-2692.
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Aleem AAbdel, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y et al..  2021.  Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.. Proc Natl Acad Sci U S A. 118(51)
Wolujewicz P, Steele JW, Kaltschmidt JA, Finnell RH, Ross MElizabeth.  2021.  Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back.. Genesis. 59(11):e23459.