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

Integrating multi-omic QTLs and predictive models reveals regulatory architectures at immune related GWAS loci in CD4+ T cells.

整合多组学 QTL 和预测模型揭示了 CD4+ T 细胞中免疫相关 GWAS 位点的调控结构。

Matos Marliette R, Ghatan Samuel, Bankier Sean, Thompson Taylor V, Lundy-Perez Kassidy, Suzuki Masako, Doña-Termine Reanna, Stauber Jacob, Reynolds David, Rosales Kathleen, Griffen Anthony, Isshiki Mariko, Simpson Danny, Andrews Nathanael, Ahmed Omar, Gold Samantha, Ostrowiak Sophia R, Raj Srilakshmi, Milman Sofiya, Lappalainen Tuuli, Greally John M

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

Egr1 is a sex-dependent regulator of neuronal chromatin, structural plasticity, and behaviour

Egr1是神经元染色质、结构可塑性和行为的性别依赖性调节因子。

Rocks, Devin; Demarchi, Luisa; Ouldibbat, Laila; Purisic, Eric; Cham, Heining; Gallo, Eduardo F; Greally, John M; Suzuki, Masako; Kundakovic, Marija

Genetic disease risks of under-represented founder populations in New York City

纽约市代表性不足的创始人群体罹患遗传疾病的风险

Isshiki, Mariko; Griffen, Anthony J; Meissner, Paul; Spencer, Paulette; Cabana, Michael D; Klugman, Susan D; Colón, Mirtha; Maksumova, Zoya; Suglia, Shakira; Isasi, Carmen R; Greally, John M; Raj, Srilakshmi M

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

MYH11 罕见变异可促进主动脉生长,并诱发心脏肥大和压力负荷过重引起的心力衰竭

Zhou Zhen, Hughes Kgosi, Saif Nisha, Kim Hyoseon, Massett Michael P, Zheng Mingjie, Cecchi Alana C, Guo Dongchuan, Murdock David R, Pan Ping, Clinton Jelita S, Wang Jun, Greally John M, Milewicz Dianna M

Identifying the Genetic Ancestry of the Pediatric Obesity-Related Asthma Variant (rs6494395) at Rps27l

鉴定 Rps27l 位点上与儿童肥胖相关的哮喘变异体 (rs6494395) 的遗传祖先

Yang, David; Griffen, Anthony; Isshiki, Mariko; Greally, John M; Rastogi, Deepa; Raj, Srilakshmi M

Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study

在TeleKidSeq试点研究中,调查通过远程医疗向不同家庭披露基因组检测结果时屏幕共享视觉辅助工具的影响

Odgis, Jacqueline A; Kelly, Nicole R; Sebastin, Monisha; Golfinopoulos, Laura; Insel, Beverly J; Suckiel, Sabrina A; Bonini, Katherine E; Marathe, Priya N; Di Biase, Miranda; Brown, Kaitlyn; Gallagher, Katie M; Ramos, Michelle A; Rodriguez, Jessica E; Yelton, Nicole; López Aguiñiga, Karla; Rodriguez, Michelle A; María, Estefany; Lopez, Jessenia; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P

Individuals with intellectual disability have an increased burden of de novo variants in cis-regulatory elements of glutamatergic neurons

智力障碍患者的谷氨酸能神经元顺式调控元件中新生突变的负担较重。

Sosa, Eric A; O'Shea, Dónal; Rosean, Samuel; Yoon, Caroline; Stauber, Jacob; Castillo, Pablo E; Seoighe, Cathal; Fazzari, Melissa J; Greally, John M

Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure

患者和医护人员对使用 GUÍA 数字工具增强基因组检测结果披露的看法

Odgis, Jacqueline A; Suckiel, Sabrina A; Golfinopoulos, Laura; Kelly, Nicole R; Bonini, Katherine E; Marathe, Priya N; Gallagher, Katie M; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Ramos, Michelle A; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

采用有效的招募和留任策略,吸引多元化的儿科人群参与基因组学研究

Ramos, Michelle A; Bonini, Katherine E; Scarimbolo, Laura; Kelly, Nicole R; Insel, Beverly; Suckiel, Sabrina A; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M; Lopez, Jessenia; Aguiñiga, Karla López; Marathe, Priya N; Maria, Estefany; Odgis, Jacqueline A; Rodriguez, Jessica E; Rodriguez, Michelle A; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas V; McGoldrick, Patricia E; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H; Williams, Trinisha; Wolf, Steven M; Yozawitz, Elissa G; Zinberg, Randi E; Abul-Husn, Noura S; Bauman, Laurie J; Diaz, George A; Ferket, Bart S; Greally, John M; Jobanputra, Vaidehi; Gelb, Bruce D; Kenny, Eimear E; Wasserstein, Melissa P; Horowitz, Carol R