Feil Family Brain & Mind Research Institute

Publications

Found 5 results
Author Title [ Type(Desc)] Year
Filters: Author is Shaw, Gary M  [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.
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.
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)