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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG)

GRCh37 到 GRCh38 参考基因组过渡的实验室注意事项:美国医学遗传学和基因组学学会 (ACMG) 实验室质量保证公告

Aggarwal, Vimla S; Guha, Saurav; Lebo, Matthew S; Retterer, Kyle; Scharfe, Curt; Bean, Lora J H

Disaggregation of Green Space Access, Walkability, and Behavioral Risk Factor Data for Precise Estimation of Local Population Characteristics

对绿地可达性、步行性和行为风险因素数据进行分解,以精确估算当地人口特征

Guha, Saurav; Alonzo, Michael; Goovaerts, Pierre; Brink, LuAnn L; Ray, Meghana; Bear, Todd; Pyne, Saumyadipta

Re-scaling and small area estimation of behavioral risk survey guided by social vulnerability data

基于社会脆弱性数据的行为风险调查重新尺度调整和小区域估计

Stacy, Shaina L; Chandra, Hukum; Guha, Saurav; Gurewitsch, Raanan; Brink, Lu Ann L; Robertson, Linda B; Wilson, David O; Yuan, Jian-Min; Pyne, Saumyadipta

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

利用基因组测序鉴定拷贝数变异:NYCKidSeq 项目的临床经验

Bonini, Katherine E; Thomas-Wilson, Amanda; Marathe, Priya N; Sebastin, Monisha; Odgis, Jacqueline A; Di Biase, Miranda; Kelly, Nicole R; Ramos, Michelle A; Insel, Beverly J; Scarimbolo, Laura; Rehman, Atteeq U; Guha, Saurav; Okur, Volkan; Abhyankar, Avinash; Phadke, Shruti; Nava, Caroline; Gallagher, Katie M; Elkhoury, Lama; Edelmann, Lisa; Zinberg, Randi E; Abul-Husn, Noura S; Diaz, George A; Greally, John M; Suckiel, Sabrina A; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa; Gelb, Bruce D; Jobanputra, Vaidehi

Detection of mosaic variants using genome sequencing in a large pediatric cohort

利用基因组测序在大型儿科队列中检测嵌合变异

Odgis, Jacqueline A; Gallagher, Katie M; Rehman, Atteeq U; Marathe, Priya N; Bonini, Katherine E; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Kelly, Nicole R; Ramos, Michelle A; Thomas-Wilson, Amanda; Guha, Saurav; Okur, Volkan; Ganapathi, Mythily; Elkhoury, Lama; Edelmann, Lisa; Zinberg, Randi E; Abul-Husn, Noura S; Diaz, George A; Greally, John M; Suckiel, Sabrina A; Jobanputra, Vaidehi; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P; Gelb, Bruce D

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

在九项基因组实施研究中,使用 ACMG-AMP 变异解释指南进行变异分类一致性分析

Amendola, Laura M; Muenzen, Kathleen; Biesecker, Leslie G; Bowling, Kevin M; Cooper, Greg M; Dorschner, Michael O; Driscoll, Catherine; Foreman, Ann Katherine M; Golden-Grant, Katie; Greally, John M; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J; Kenny, Eimear E; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C; Rehm, Heidi L; Rolf, Bradley; Roman, Tamara S; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

ClinGen听力损失专家组对GJB2基因中p.Met34Thr和p.Val37Ile变异的共识性解读

Shen, Jun; Oza, Andrea M; Del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Wai Choy, Kwong; Cheng, Yen-Fu; Avraham, Karen B; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E; Grant, Andrew R; Siegert, Rebecca K; DiStefano, Marina T; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N

Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment

独立证据表明,一般认知能力与教育程度的基因位点之间存在关联。

Trampush, Joey W; Lencz, Todd; Knowles, Emma; Davies, Gail; Guha, Saurav; Pe'er, Itsik; Liewald, David C; Starr, John M; Djurovic, Srdjan; Melle, Ingrid; Sundet, Kjetil; Christoforou, Andrea; Reinvang, Ivar; Mukherjee, Semanti; DeRosse, Pamela; Lundervold, Astri; Steen, Vidar M; John, Majnu; Espeseth, Thomas; Räikkönen, Katri; Widen, Elisabeth; Palotie, Aarno; Eriksson, Johan G; Giegling, Ina; Konte, Bettina; Ikeda, Masashi; Roussos, Panos; Giakoumaki, Stella; Burdick, Katherine E; Payton, Antony; Ollier, William; Horan, Mike; Scult, Matthew; Dickinson, Dwight; Straub, Richard E; Donohoe, Gary; Morris, Derek; Corvin, Aiden; Gill, Michael; Hariri, Ahmad; Weinberger, Daniel R; Pendleton, Neil; Iwata, Nakao; Darvasi, Ariel; Bitsios, Panos; Rujescu, Dan; Lahti, Jari; Le Hellard, Stephanie; Keller, Matthew C; Andreassen, Ole A; Deary, Ian J; Glahn, David C; Malhotra, Anil K