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

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

利用深度临床表型分析和果蝇模型解析SLC6A1基因表达变异性

Jay, Kristy L; Gogate, Nikhita; Hall, Paige I; Ezell, Kimberly M; Andrews, Jonathan C; Jangam, Sharayu V; Pan, Hongling; Pham, Kelvin; German, Ryan; Gomez, Vanessa; Jellinek-Russo, Emily; Storch, Eric A; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J; Dierick, Herman A; Cogan, Joy D; Phillips, John A; Hamid, Rizwan; Cassini, Thomas; Rives, Lynette; Pruthi, Sumit; Chen, Hua-Chang; Posey, Jennifer E; Wangler, Michael F

NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila

NLGN3自闭症变异体对果蝇的突触和睡眠行为具有不同的功能影响

Townsley, Rebekah E; Andrews, Jonathan C; Srivastav, Saurabh; Jangam, Sharayu V; Hannan, Shabab B; Kanca, Oguz; Yamamoto, Shinya; Wangler, Michael F

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

CDKL1 和 CDKL2 的新生变异与神经发育症状相关

Bereshneh, Ali H; Andrews, Jonathan C; Eberl, Daniel F; Bademci, Guney; Borja, Nicholas A; Bivona, Stephanie; Chung, Wendy K; Yamamoto, Shinya; Wangler, Michael F; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J; Kanca, Oguz

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

代谢组学分析揭示了PEX7缺陷型根状软骨发育不良点状畸形模型中脑脂质的改变

Sankhe, Riya; Williams, Meredith I; Fallatah, Wedad; Mackay, Laura; Brown, Mary Layne; Bhagwat, Pranjali; Elsea, Sarah H; Braverman, Nancy; Wangler, Michael F

Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.

区分 PEX2 和 PEX16 基因变异对轻度、重度和非典型过氧化物酶体生物合成障碍的严重程度

Gomez Vanessa A, Kanca Oguz, Jangam Sharayu V, Srivastav Saurabh, Andrews Jonathan C, Wangler Michael F

Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders

果蝇模型揭示了底物通道效应对过氧化物酶体生物合成障碍中磷脂和鞘脂的影响

Wangler, Michael F; Chao, Yu-Hsin; Roth, Mary; Welti, Ruth; McNew, James A