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

Low population penetrance of variants associated with inherited retinal degenerations

与遗传性视网膜变性相关的变异在人群中的外显率较低

Zaslavsky, Kirill; Chen, Liyin; Park, Chloe; Place, Emily M; Navarro-Gomez, Daniel; Zekavat, Seyedeh M; Barile, Christopher F; Bujakowska, Kinga M; Rossin, Elizabeth J; Pierce, Eric A

Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen

利用大规模基因靶向筛选鉴定小鼠外层视网膜功能的遗传决定因素

Wotton, Janine M; Krebs, Mark P; Sangermano, Riccardo; Wong, Jessica K; Smith, Cynthia; Willett, Amelia M; Howell, Douglas; Jones, Abby; Witmeyer, Catherine; Lowy, Jacob P; McFarland, Michael; Murray, Stephan A; Braun, Robert E; Nishina, Patsy M; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Peachey, Neal S; White, Jacqueline K

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

靶向长读长测序可富集与疾病相关的目标基因组区域,从而提供完整的孟德尔遗传病诊断。

Nakamichi, Kenji; Huey, Jennifer; Sangermano, Riccardo; Place, Emily M; Bujakowska, Kinga M; Marra, Molly; Everett, Lesley A; Yang, Paul; Chao, Jennifer R; Van Gelder, Russell N; Mustafi, Debarshi

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

纤毛病基因CFAP410的编码区和非编码区变异会导致早发性非综合征性视网膜变性。

Sangermano, Riccardo; Gupta, Priya; Price, Cherrell; Han, Jinu; Navarro, Julien; Condroyer, Christel; Place, Emily M; Antonio, Aline; Mukai, Shizuo; Zanlonghi, Xavier; Sahel, José-Alain; DiTroia, Stephanie; O'Heir, Emily; Duncan, Jacque L; Pierce, Eric A; Zeitz, Christina; Audo, Isabelle; Huckfeldt, Rachel M; Bujakowska, Kinga M

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

基于结构的网络分析预测与遗传性视网膜疾病相关的人类蛋白质致病变异

Hauser, Blake M; Luo, Yuyang; Nathan, Anusha; Al-Moujahed, Ahmad; Vavvas, Demetrios G; Comander, Jason; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Gaiha, Gaurav D; Rossin, Elizabeth J

Retinal Manifestations in Spinocerebellar Ataxia Type 3

脊髓小脑性共济失调3型视网膜表现

Chorfi, Sarah; Place, Emily M; Mallery, Robert M; Huckfeldt, Rachel M

Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor.

利用健康男性供体的外周血单核细胞生成人类诱导多能干细胞系(OGIi001)

Zhang Hanmeng, Daheron Laurence, Cerna-Chavez Rodrigo, Place Emily M, Huckfeldt Rachel M, Pierce Eric A, Garita-Hernandez Marcela

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY

RP2 X连锁视网膜色素变性携带者状态,表现为血管渗漏和单侧黄斑萎缩

Raparia, Eva; Ballios, Brian G; Place, Emily M; Husain, Deeba; Huckfeldt, Rachel M