Executive Editor-in-Chief's introduction for this Special Issue by Richard H. Finnell, Yong-Qing Zhu

Get full text

Homozygous mutation in the MTHFS gene may contribute to the development of cerebral folate deficiency syndrome by Dharaniya Sakthivel, Yunping Lei, Xuanye Cao, Richard H Finnell

Get full text

Generation of integration-free induced pluripotent stem cells from a patient with spina bifida by Hongran Wang, Shuying Zhao, Richard H. Finnell, Timothy George, Austin J. Cooney

Get full text

Gene Environment Interactions in the Etiology of Neural Tube Defects by Richard H. Finnell, Richard H. Finnell, Carlo Donato Caiaffa, Sung-Eun Kim, Yunping Lei, John Steele, Xuanye Cao, Gabriel Tukeman, Ying Linda Lin, Robert M. Cabrera, Bogdan J. Wlodarczyk

Get full text

Craniosynostosis: current conceptions and misconceptions by Cristiane Sá Roriz Fonteles, Richard H. Finnell, Timothy M. George, Raymond J. Harshbarger

Get full text

Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development by Sung-Eun Kim, Pooja J. Chothani, Rehana Shaik, Westley Pollard, Richard H. Finnell

Get full text

Folic acid modifies the shape of epithelial cells during morphogenesis via a Folr1 and MLCK dependent mechanism by Jessica B. Martin, Maria Muccioli, Kenneth Herman, Richard H. Finnell, Timothy F. Plageman

Get full text

Identification of novel CELSR1 mutations in spina bifida. by Yunping Lei, Huiping Zhu, Wei Yang, M Elizabeth Ross, Gary M Shaw, Richard H Finnell

Get full text

Mutations in planar cell polarity gene SCRIB are associated with spina bifida. by Yunping Lei, Huiping Zhu, Cody Duhon, Wei Yang, M Elizabeth Ross, Gary M Shaw, Richard H Finnell

Get full text

Whole-exome sequencing study of hypospadias by Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen

Get full text

Fuz regulates craniofacial development through tissue specific responses to signaling factors. by Zichao Zhang, Bogdan J Wlodarczyk, Karen Niederreither, Shankar Venugopalan, Sergio Florez, Richard H Finnell, Brad A Amendt

Get full text

Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects by Tian Tian, Tian Tian, Xuanye Cao, Yongyan Chen, Yongyan Chen, Lei Jin, Lei Jin, Zhiwen Li, Zhiwen Li, Xiao Han, Ying Lin, Bogdan J. Wlodarczyk, Richard H. Finnell, Richard H. Finnell, Zhengwei Yuan, Linlin Wang, Linlin Wang, Aiguo Ren, Aiguo Ren, Yunping Lei

Get full text

<i>KDM6B</i> Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency by Xiao Han, Xuanye Cao, Robert M. Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T. Ramaekers, Richard H. Finnell, Yunping Lei

Get full text

MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure by Rachel A. Keuls, Karin Kojima, Brittney Lozzi, John W. Steele, Qiuying Chen, Steven S. Gross, Richard H. Finnell, Ronald J. Parchem

Get full text

Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13 by Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie, Fang Chen

Get full text

Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome by Salvatore Vaiasicca, Gianmarco Melone, David W. James, Marcos Quintela, Alessandra Preziuso, Richard H. Finnell, Robert Steven Conlan, Lewis W. Francis, Bruna Corradetti

Get full text

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases by Linlin Wang, Aiguo Ren, Tian Tian, Nan Li, Xuanye Cao, Peng Zhang, Lei Jin, Zhiwen Li, Yan Shen, Bo Zhang, Richard H. Finnell, Yunping Lei

Get full text

Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects by Tian Tian, Xinyuan Lai, Kuanhui Xiang, Xiao Han, Shengju Yin, Robert M. Cabrera, John W. Steele, Yunping Lei, Xuanye Cao, Richard H. Finnell, Linlin Wang, Aiguo Ren

Get full text

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies by Chiara Parodi, Elisabetta Di Fede, Angela Peron, Angela Peron, Angela Peron, Ilaria Viganò, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Cristina Gervasini, Aglaia Vignoli, Valentina Massa, Valentina Massa

Get full text

Excess folic acid intake increases DNA de novo point mutations by Xuanye Cao, Jianfeng Xu, Ying L. Lin, Robert M. Cabrera, Qiuying Chen, Chaofan Zhang, John W. Steele, Xiao Han, Steven S. Gross, Bogdan J. Wlodarczyk, James R. Lupski, Wei Li, Hongyan Wang, Richard H. Finnell, Yunping Lei

Get full text