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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

Designing inclusive newborn sequencing research: insights from parents in underrepresented communities

设计包容性的新生儿基因测序研究:来自弱势群体父母的见解

Del Rosario, Maya C; Walmsley, Sheyenne A; Harrison, Barbara W; Stephens, Crystal T; Zettler, Bethany; Rivera-Cruz, Greysha; Agrawal, Priyal; Brower, Amy; Chigbu, Stephanie; Christensen, Kurt D; Genetti, Casie A; Givens, Richetta; Gold, Nina B; Reeves, Inez V; Schichter, Isabella; Shariat, Habib; Simon, Sandra; Smith, Hadley Stevens; Uveges, Melissa; Green, Robert C; Holm, Ingrid A; Pereira, Stacey

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

Family genetic risk communication and reverse cascade testing in the BabySeq project

BabySeq 项目中的家庭遗传风险沟通和逆向级联检测

Uveges, Melissa K; Smith, Hadley Stevens; Pereira, Stacey; Genetti, Casie; McGuire, Amy L; Beggs, Alan H; Green, Robert C; Holm, Ingrid A

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

对275例线粒体肌病患者的临床、分子和组织病理学特征进行回顾性队列分析

Hildebrandt, Clara; Genetti, Casie A; Logvinenko, Tanya; Win, Wathone; Barraza-Flores, Pamela; Hayes, Leslie H; Rockowitz, Shira; Lehtokari, Vilma-Lotta; Iannaccone, Susan T; Darras, Basil T; Topaloglu, Haluk; Wallgren-Pettersson, Carina; Beggs, Alan H

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

长读长测序是色素失禁症精准诊断的必要条件。

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P G; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophie H R; Anderson, Zachary B; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Signals of Ancestry-Specific Selection in Gentle Africanized Honey Bees

非洲化蜜蜂中祖先特异性选择的信号

Genetti, Maximilian; Corbett-Detig, Russell