日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele

局灶性黏附激酶变异体可能与人类脊髓脊膜膨出风险相关

Youmans, Lydia; Kamath, Charani; Mansoorshahi, Sara; Kurjee, Myra; Laville, Parkerson; Sprenger, Ashabari; Frost, Jeffrey; Miller, Rachel; Northrup, Hope; Au, Kit Sing

Risk of meningomyelocele mediated by the common 22q11.2 deletion

常见的22q11.2缺失介导的脊髓脊膜膨出风险

Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araújo, Camila; Machado, Hélio R; George, Renee; Gerding, Bryn; James, Kiely N; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H; Kibar, Zoha; Marwan, Ahmed I; Melikishvili, Gia; Meltzer, Hal S; Mutchinick, Osvaldo M; Stevenson, David A; Mroczkowski, Henry J; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H; Emanuel, Beverly S; Garcia-Minaur, Sixto; Nowakowska, Beata A; Stevenson, Roger E; Zaki, Maha S; Northrup, Hope; McNamara, Hanna K; Aldinger, Kimberly A; Phelps, Ian G; Deng, Mei; Glass, Ian A; Morrow, Bernice; McDonald-McGinn, Donna M; Sanna-Cherchi, Simone; Lamb, Dolores J; Gleeson, Joseph G

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

ARMC5 控制大多数 Pol II 亚基的降解,ARMC5 突变会增加小鼠和人类神经管缺陷的风险

Hongyu Luo #, Linjiang Lao #, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie-Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu5

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

结节性硬化症患者的耐药性癫痫与TSC2基因型相关:来自使用维加特林预防癫痫(PREVeNT)试验的更多发现

Farach, Laura S; Richard, Melissa A; Wulsin, Aynara C; Bebin, Elizabeth M; Krueger, Darcy A; Sahin, Mustafa; Porter, Brenda E; McPherson, Tarrant O; Peters, Jurriaan M; O'Kelley, Sarah; Taub, Katherine S; Rajaraman, Rajsekar; Randle, Stephanie C; McClintock, William M; Koenig, Mary Kay; Frost, Michael D; Werner, Klaus; Nolan, Danielle A; Wong, Michael; Cutter, Gary; Northrup, Hope; Au, Kit Sing

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

普通人群中常见的癫痫变异型与结节性硬化症患者的癫痫无关。

Richard, Melissa A; Lupo, Philip J; Ehli, Erik A; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Au, Kit Sing; Northrup, Hope; Farach, Laura S

Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated Outcomes

胎儿修复后脊柱裂的形态计量分析揭示了新的亚型及其相关结局

Mann, Lovepreet K; Pandiri, Shreya; Agarwal, Neha; Northrup, Hope; Au, Kit Sing; Grundberg, Elin; Bergh, Eric P; Austin, Mary T; Patel, Rajan; Miller, Brandon; Zhu, Sen; Feinberg, Jonathan S; Lai, Dejian; Tsao, KuoJen; Fletcher, Stephen A; Papanna, Ramesha

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

全外显子组测序鉴定出源自小鼠模型的脊柱裂潜在候选基因

Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen-Han Wilfred; Nicolas-Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M; Connaughton, Dervla M; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohammed; Eid, Loai A; Awad, Hazem S; Tasic, Velibor; Mane, Shrikant M; Lifton, Richard P; Baum, Michelle A; Shril, Shirlee; Estrada, Carlos R; Hildebrandt, Friedhelm

Snx3 is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling

Snx3 在经典和非经典 WNT 信号传导中发挥重要作用,对哺乳动物神经管闭合至关重要

Heather Mary Brown, Stephen A Murray, Hope Northrup, Kit Sing Au, Lee A Niswander