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

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease

通过对GBE1相关疾病的遗传流行病学研究,统一早发性糖原贮积症IV型和成人多聚葡萄糖体病患者群体

Koch, Rebecca L; Akman, H Orhan; Chown, Erin; Goldman, Deberah; Levenson, Jeff; Lu, Qing; Michalovicz Gill, Lindsay T; Morgan, Matthew; Orthmann-Murphy, Jennifer L; Pires, Natacha T; Reef, Rebecca; Saxe, Harriet; Singer-Berk, Moriel; Baxter, Samantha

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

利用基因组聚合数据库,探索超过 80 万人类样本中具有临床意义的变异的穿透率。

Gudmundsson, Sanna; Singer-Berk, Moriel; Stenton, Sarah L; Goodrich, Julia K; Wilson, Michael W; Einson, Jonah; Watts, Nicholas A; Lappalainen, Tuuli; Rehm, Heidi L; MacArthur, Daniel G; 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

Inferring compound heterozygosity from large-scale exome sequencing data

从大规模外显子组测序数据推断复合杂合性

Guo, Michael H; Francioli, Laurent C; Stenton, Sarah L; Goodrich, Julia K; Watts, Nicholas A; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M; Hirschhorn, Joel N; Rehm, Heidi L; Daly, Mark J; O'Donnell-Luria, Anne; Karczewski, Konrad J; MacArthur, Daniel G; Samocha, Kaitlin E

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

对罕见基因组计划中用于罕见病诊断的变异优先排序方法进行批判性评估

Stenton, Sarah L; O'Leary, Melanie C; Lemire, Gabrielle; VanNoy, Grace E; DiTroia, Stephanie; Ganesh, Vijay S; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O B; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E; Fullerton, Stephanie M; Radivojac, Predrag; Rehm, Heidi L; O'Donnell-Luria, Anne

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

杂合子功能缺失型SMC3变异与不同的生长发育特征相关。

Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F; O'Donnell-Luria, Anne; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

对PLA2G6相关神经退行性疾病全球遗传患病率的估计

Kurtovic-Kozaric, Amina; Singer-Berk, Moriel; Wood, Jordan; Evangelista, Emily; Panwala, Leena; Hope, Amanda; Heinrich, Stefanie M; Baxter, Samantha; Kiel, Mark J

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

先进的变异分类框架降低了群体测序数据中预测的功能缺失变异的假阳性率

Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G; England, Eleina; Wood, Jordan C; Son, Rachel G; Watts, Nicholas A; Karczewski, Konrad J; Harrison, Steven M; MacArthur, Daniel G; Rehm, Heidi L; O'Donnell-Luria, Anne

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

TANGO2 缺乏症的自然病程:73 例患者的基线评估

Miyake, Christina Y; Lay, Erica J; Soler-Alfonso, Claudia; Glinton, Kevin E; Houck, Kimberly M; Tosur, Mustafa; Moran, Nancy E; Stephens, Sara B; Scaglia, Fernando; Howard, Taylor S; Kim, Jeffrey J; Pham, Tam Dam; Valdes, Santiago O; Li, Na; Murali, Chaya N; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M; Kannankeril, Prince J; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A; Ehsan, Saad A; Azamian, Mahshid S; Lalani, Seema R