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 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

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

RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds

RASP:复杂细胞背景中的最佳单点检测

Bin Fu, Emma E Brock, Rebecca Andrews, Jonathan C Breiter, Ru Tian, Christina E Toomey, Joanne Lachica, Tammaryn Lashley, Mina Ryten, Nicholas W Wood, Michele Vendruscolo, Sonia Gandhi, Lucien E Weiss, Joseph S Beckwith, Steven F Lee

Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing

对果蝇听觉器官中哺乳动物耳聋基因同源物的比较研究表明,昆虫和脊椎动物的听觉存在遗传相关性

Sutton, Daniel C; Andrews, Jonathan C; Dolezal, Dylan M; Park, Ye Jin; Li, Hongjie; Eberl, Daniel F; Yamamoto, Shinya; Groves, Andrew K

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

利用深度临床表型分析和果蝇模型解析多代家族中SLC6A1基因表达变异

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

Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila

区分果蝇中PEX基因变异的严重程度,以解释轻度、重度和非典型过氧化物酶体生物合成障碍

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

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

EZH1基因中的一个新发错义变异与发育迟缓相关,并在果蝇中表现出功能缺陷。

Jangam, Sharayu; Briere, Lauren C; Jay, Kristy; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

WDR37基因的新生变异与癫痫、眼裂缺损、畸形、发育迟缓、智力障碍和小脑发育不全有关

Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V