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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由PPFIA3基因罕见变异引起的综合征性神经发育障碍

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

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

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

罕见的EIF4A2变异与一种神经发育障碍有关,其特征是智力障碍、肌张力低下和癫痫。

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein Tobias B Haack, Ulrike; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Jamra, Rami Abou; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

PPFIA3基因的罕见变异会导致发育迟缓、智力障碍、自闭症和癫痫。

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Pichon, Jean-Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Pichon, Anne-Sophie Denommé-; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Network, Undiagnosed Diseases; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

A gene-specific T2A-GAL4 library for Drosophila.

果蝇特异性T2A-GAL4基因文库

Lee Pei-Tseng, Zirin Jonathan, Kanca Oguz, Lin Wen-Wen, Schulze Karen L, Li-Kroeger David, Tao Rong, Devereaux Colby, Hu Yanhui, Chung Verena, Fang Ying, He Yuchun, Pan Hongling, Ge Ming, Zuo Zhongyuan, Housden Benjamin E, Mohr Stephanie E, Yamamoto Shinya, Levis Robert W, Spradling Allan C, Perrimon Norbert, Bellen Hugo J

A genetic toolkit for tagging intronic MiMIC containing genes

用于标记含MiMIC基因的内含子的遗传工具包

Nagarkar-Jaiswal, Sonal; DeLuca, Steven Z; Lee, Pei-Tseng; Lin, Wen-Wen; Pan, Hongling; Zuo, Zhongyuan; Lv, Jiangxing; Spradling, Allan C; Bellen, Hugo J

Versatile P[acman] BAC libraries for transgenesis studies in Drosophila melanogaster

用于果蝇转基因研究的多功能P[acman] BAC文库

Venken, Koen J T; Carlson, Joseph W; Schulze, Karen L; Pan, Hongling; He, Yuchun; Spokony, Rebecca; Wan, Kenneth H; Koriabine, Maxim; de Jong, Pieter J; White, Kevin P; Bellen, Hugo J; Hoskins, Roger A

Mapping Drosophila mutations with molecularly defined P element insertions

利用分子定义的P元件插入对果蝇突变进行定位

Zhai, R Grace; Hiesinger, P Robin; Koh, Tong-Wey; Verstreken, Patrik; Schulze, Karen L; Cao, Yu; Jafar-Nejad, Hamed; Norga, Koenraad K; Pan, Hongling; Bayat, Vafa; Greenbaum, Michael P; Bellen, Hugo J

Senseless acts as a binary switch during sensory organ precursor selection

无感觉状态在感觉器官前体选择过程中起着二元开关的作用。

Jafar-Nejad, Hamed; Acar, Melih; Nolo, Riitta; Lacin, Haluk; Pan, Hongling; Parkhurst, Susan M; Bellen, Hugo J