The interaction of endorepellin and neurexin triggers neuroepithelial autophagy and maintains neural tube development

Authors: Lu, Lei, Bai, Meizhu, Zheng, Yufang, Wang, Xiukun, Chen, Zhongzhong, Peng, Rui, Finnell, Richard H., Zhao, Tongjin, Li, Chengtao, Wu, Bo, Lei, Yunping, Li, Jinsong, Wang, Hongyan

Source: In Science Bulletin 30 July 2024 69(14):2260-2272

A mutation in TBXT causes congenital vertebral malformations in humans and mice

Authors: Chen, Shuxia, Lei, Yunping, Yang, Yajun, Liu, Chennan, Kuang, Lele, Jin, Li, Finnell, Richard H., Yang, Xueyan, Wang, Hongyan

Source: In Journal of Genetics and Genomics April 2024 51(4):433-442

Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida

Authors: Wolujewicz, Paul, Aguiar-Pulido, Vanessa, Thareja, Gaurav, Suhre, Karsten, Elemento, Olivier, Finnell, Richard H., Ross, M. Elizabeth

Source: In Genetics in Medicine Open 2024 2

Maternal metabolism influences neural tube closure

Authors: Keuls, Rachel A., Finnell, Richard H., Parchem, Ronald J.

Source: Trends in endocrinology and metabolism. 34(9):539-553

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195176686.0x000001&indx=1&recIds=ETOCvdc_100195176686.0x000001

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

Authors: Sok, Pagna, Sabo, Aniko, Almli, Lynn M., Jenkins, Mary M., Nembhard, Wendy N., Agopian, A. J., Bamshad, Michael J., Blue, Elizabeth E., Brody, Lawrence C., Brown, Austin L., Browne, Marilyn L., Canfield, Mark A., Carmichael, Suzan L., Chong, Jessica X., Dugan‐Perez, Shannon, Feldkamp, Marcia L., Finnell, Richard H., Gibbs, Richard A., Kay, Denise M., Lei, Yunping, Meng, Qingchang, Moore, Cynthia A., Mullikin, James C., Muzny, Donna, Olshan, Andrew F., Pangilinan, Faith, Reefhuis, Jennita, Romitti, Paul A., Schraw, Jeremy M., Shaw, Gary M., Werler, Martha M., Harpavat, Sanjiv, Lupo, Philip J.

Source: American journal of medical genetics.Part A. 191(6):1546-1556

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184363383.0x000001&indx=1&recIds=ETOCvdc_100184363383.0x000001

Neural tube defects: Prevalence, mortality, and maternal characteristics in two departmental hospitals in the northwestern region of Nicaragua, 2006–2018

Authors: Pastora Bucardo, Dania María, González, Fredman, Montes Pastora, María, Pimienta Ramirez, Paula Andrea, Bonilla, Indiana López, Vielot, Nadja A, Finnell, Richard H.

Source: Birth defects research. 115(9):945-953

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182461227.0x000001&indx=1&recIds=ETOCvdc_100182461227.0x000001

Gene—environment interactions underlying the etiology of neural tube defects

Authors: Caiaffa, Carlo Donato, Fonteles, Cristiane Sá Roriz, Yunping, Lei, Finnell, Richard H.

Source: Current topics in developmental biology. 152:193-220

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN631364365&indx=1&recIds=ETOCRN631364365

Whole-exome sequencing study of hypospadias

Authors: Chen, Zhongzhong ^{1, 2, 7, 8, ∗}, Lei, Yunping ^{3, 7}, Finnell, Richard H. ^{3, 4, 7}, Ding, Yu ^{1, 7}, Su, Zhixi ⁵, Wang, Yaping ¹, Xie, Hua ^{1, ∗∗}, Chen, Fang ^{1, 6, ∗∗∗}

Source: In iScience 19 May 2023 26(5)

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Authors: Aguiar-Pulido, Vanessa, Wolujewicz, Paul, Martinez-Fundichely, Alexander, Elhaik, Eran, Thareja, Gaurav, Aleem, Alice Abdel, Chalhoub, Nader, Cuykendall, Tawny, Al-Zamer, Jamel, Lei, Yunping, El-Bashir, Haitham, Musser, James M., Al-Kaabi, Abdulla, Shaw, Gary M., Khurana, Ekta, Suhre, Karsten, Mason, Christopher E., Elemento, Olivier, Finnell, Richard H., Ross, M. Elizabeth

Source: Proceedings of the National Academy of Sciences of the United States of America, 2021 Dec . 118(51), 1-10.

Access URL: https://www.jstor.org/stable/27117557

CIC missense variants contribute to susceptibility for spina bifida

Authors: Han, Xiao, Cao, Xuanye, Aguiar‐Pulido, Vanessa, Yang, Wei, Karki, Menuka, Ramirez, Paula Andrea Pimienta, Cabrera, Robert M., Lin, Ying Linda, Wlodarczyk, Bogdan J., Shaw, Gary M., Ross, M. Elizabeth, Zhang, Cuilian, Finnell, Richard H., Lei, Yunping

Source: Human mutation. 43(12):2021-2032

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168379232.0x000001&indx=1&recIds=ETOCvdc_100168379232.0x000001

Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects

Authors: Mohan Dass, Nithya Lakshmi, Botto, Lorenzo D., Tinker, Sarah C., Canfield, Mark A., Finnell, Richard H., Gallaway, Michael Shayne, Hashmi, Syed Shahrukh, Hoyt, Adrienne T., Nembhard, Wendy N., Waller, Dorothy K.

Source: Birth defects research. 114(15):885-894

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100162714021.0x000001&indx=1&recIds=ETOCvdc_100162714021.0x000001

Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects

Authors: Tian, Tian, Lai, Xinyuan, Xiang, Kuanhui, Han, Xiao, Yin, Shengju, Cabrera, Robert M., Steele, John W., Lei, Yunping, Cao, Xuanye, Finnell, Richard H., Wang, Linlin, Ren, Aiguo

Source: Epigenetics. 17(2):133-146

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152391770.0x000001&indx=1&recIds=ETOCvdc_100152391770.0x000001

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Authors: Li, Jingjing, Yang, Wei, Wang, Yuejun Jessie, Ma, Chen, Curry, Cynthia J., McGoldrick, Daniel, Nickerson, Deborah A., Chong, Jessica X., Blue, Elizabeth E., Mullikin, James C., Reefhuis, Jennita, Nembhard, Wendy N., Romitti, Paul A., Werler, Martha M., Browne, Marilyn L., Olshan, Andrew F., Finnell, Richard H., Feldkamp, Marcia L., Pangilinan, Faith, Almli, Lynn M., Bamshad, Mike J., Brody, Lawrence C., Jenkins, Mary M., Shaw, Gary M.

Source: American journal of medical genetics.Part A. 188(8):2376-2388

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155932379.0x000001&indx=1&recIds=ETOCvdc_100155932379.0x000001

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca²⁺ overload.

Authors: Li, Hongyu, Ma, Qingwen, Xue, Yan, Cai, Linlin, Bao, Liwen, Hong, Lei, Zeng, Yitao, Huang, Shu-Zhen, Finnell, Richard H., Zeng, Fanyi

Source: SCIENCE CHINA Life Sciences; Feb2025, Vol. 68 Issue 2, p484-501, 18p

The DNA demethylase TET1 modifies the impact of maternal folic acid status on embryonic brain development.

Authors: Chen, Lehua, van der Veer, Bernard K, Chen, Qiuying, Champeris Tsaniras, Spyridon, Brangers, Wannes, Kwak, Harm H M, Khoueiry, Rita, Lei, Yunping, Cabrera, Robert, Gross, Steven S, Finnell, Richard H, Koh, Kian Peng

Source: EMBO Reports; Jan2025, Vol. 26 Issue 1, p175-199, 25p

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Authors: Wolujewicz, Paul, Aguiar-Pulido, Vanessa, AbdelAleem, Alice, Nair, Vidya, Thareja, Gaurav, Suhre, Karsten, Shaw, Gary M., Finnell, Richard H., Elemento, Olivier, Ross, M. Elizabeth

Source: In Genetics in Medicine July 2021 23(7):1211-1218

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

Authors: Pitsava, Georgia, Feldkamp, Marcia L., Pankratz, Nathan, Lane, John, Kay, Denise M., Conway, Kristin M., Shaw, Gary M., Reefhuis, Jennita, Jenkins, Mary M., Almli, Lynn M., Olshan, Andrew F., Pangilinan, Faith, Brody, Lawrence C., Sicko, Robert J., Hobbs, Charlotte A., Bamshad, Mike, McGoldrick, Daniel, Nickerson, Deborah A., Finnell, Richard H., Mullikin, James, Romitti, Paul A., Mills, James L.

Source: American journal of medical genetics.Part A. 185(10):3028-3041

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130097424.0x000001&indx=1&recIds=ETOCvdc_100130097424.0x000001

Amniotic fluid-derived stem cells: potential factories of natural and mimetic strategies for congenital malformations.

Authors: Fonteles, Cristiane S. R., Enterria-Rosales, Julia, Lin, Ying, Steele, John W., Villarreal-Leal, Ramiro A., Xiao, Jing, Idowu, Daniel I., Burgelin, Beck, Wlodarczyk, Bogdan J., Finnell, Richard H., Corradetti, Bruna

Source: Stem Cell Research & Therapy; 12/5/2024, Vol. 15 Issue 1, p1-15, 15p

Subject Terms: POISONS, GREEN fluorescent protein, GEL permeation chromatography, YOLK sac, HUMAN abnormalities

Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.

Authors: Sung-Eun Kim, Hyun-Yi Kim, Wlodarczyk, Bogdan J., Finnell, Richard H.

Source: Development (09501991); Oct2024, Vol. 151 Issue 19, p1-11, 11p

Subject Terms: NEURAL tube, HEDGEHOG signaling proteins, NEURAL development, CELL polarity, CELL communication, G protein coupled receptors

Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop

Authors: Maruvada, Padma, Stover, Patrick J, Mason, Joel B, Bailey, Regan L, Davis, Cindy D, Field, Martha S, Finnell, Richard H, Garza, Cutberto, Green, Ralph, Gueant, Jean-Louis, Jacques, Paul F, Klurfeld, David M, Lamers, Yvonne, MacFarlane, Amanda J, Miller, Joshua W ^*, Molloy, Anne M, O’Connor, Deborah L, Pfeiffer, Christine M, Potischman, Nancy A, Rodricks, Joseph V, Rosenberg, Irwin H, Ross, Sharon A, Shane, Barry, Selhub, Jacob, Stabler, Sally P ^*, Trasler, Jacquetta, Yamini, Sedigheh, Zappalà, Giovanna

Source: In The American Journal of Clinical Nutrition November 2020 112(5):1390-1403