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

The tetraspanin disc proteins, peripherin-2 and ROM1, facilitate CNG channel localization to the rod outer segment

四跨膜蛋白盘状蛋白,即外周蛋白-2和ROM1,促进CNG通道定位到视杆细胞外节。

Thorson, Molly T; Wei, Stephanie E; Park, Junseo; Martínez-Márquez, Jorge Y; Ball, David G; Willer, Jason R; Spencer, William J; Pearring, Jillian N

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

CEP162 缺陷会导致人类视网膜变性,并揭示其在纤毛发生和神经发生中的双重作用

Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Dueñas; Käseberg, Stephan; Jäger, Melanie; Willer, Jason R; Winter, Jennifer; Truong, Hanh M; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stöhr, Heidi; Mansard, Luke; Roux, Anne-Françoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M; Van Lint, Michel; Rossmann, Heidi; Häuser, Friederike; Nürnberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N; De Baere, Elfride; Bolz, Hanno J

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration

罕见变异的系统性功能检测:CFI 对年龄相关性黄斑变性的影响

Tan, Perciliz L; Garrett, Melanie E; Willer, Jason R; Campochiaro, Peter A; Campochiaro, Betsy; Zack, Donald J; Ashley-Koch, Allison E; Katsanis, Nicholas

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

16号染色体部分单亲同源二体性揭示了IFT140基因中导致Mainzer-Saldino综合征的有害双等位基因突变。

Helm, Benjamin M; Willer, Jason R; Sadeghpour, Azita; Golzio, Christelle; Crouch, Eric; Vergano, Samantha Schrier; Katsanis, Nicholas; Davis, Erica E

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

新发GMNN基因突变导致常染色体显性遗传性原始侏儒症,并伴有Meier-Gorlin综合征

Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

NPHP1基因座上的复发性拷贝数变异(CNV)和单核苷酸变异(SNV)是导致巴德-比德尔综合征的致病等位基因。

Lindstrand, Anna; Davis, Erica E; Carvalho, Claudia M B; Pehlivan, Davut; Willer, Jason R; Tsai, I-Chun; Ramanathan, Subhadra; Zuppan, Craig; Sabo, Aniko; Muzny, Donna; Gibbs, Richard; Liu, Pengfei; Lewis, Richard A; Banin, Eyal; Lupski, James R; Clark, Robin; Katsanis, Nicholas

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

一种由RPL10功能障碍引起的新型核糖体病会扰乱神经发育,并导致人类X连锁小头畸形。

Brooks, Susan S; Wall, Alissa L; Golzio, Christelle; Reid, David W; Kondyles, Amalia; Willer, Jason R; Botti, Christina; Nicchitta, Christopher V; Katsanis, Nicholas; Davis, Erica E

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号易感性

Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie L P; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha I A; Goin-Kochel, Robin P; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号疾病的易感性

de Bode, Stella; Fritz, Stacy; Mathern, Gary W; Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie LP; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha IA; Goin-Kochel, Robin; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.

rnaset2 突变斑马鱼模型可诱发家族性囊性白质脑病,并揭示 RNase T2 在降解核糖体 RNA 中的作用

Haud Noémie, Kara Firat, Diekmann Simone, Henneke Marco, Willer Jason R, Hillwig Melissa S, Gregg Ronald G, Macintosh Gustavo C, Gärtner Jutta, Alia A, Hurlstone Adam F L