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

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

一项前瞻性试验比较了可编程靶向长读长测序和短读长基因组测序在小脑共济失调基因诊断中的应用。

Rafehi, Haloom; Fearnley, Liam G; Read, Justin; Snell, Penny; Davies, Kayli C; Scott, Liam; Gillies, Greta; Thompson, Genevieve C; Field, Tess A; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H C; Szmulewicz, David J; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

深层组织测序可提高局灶性皮质发育不良的基因诊断率。

Galea Breana, Reid Joshua, Gooley Samuel, Witkowski Tom, Lane Tara, Macdonald Sian, Green Timothy E, Ye Zimeng, Adikari Thiuni, Bulluss Kristian, Mullen Saul A, Bennett Caitlin A, Forster Brialie, Bradshaw Gabi, Lin Wendi, De Silva Wasanthi, Ramirez Rosita B, Khoshkhoo Sattar, Gupta Sachin, Krivanek Michael, Kothur Kavitha, Gill Deepak, Pope Kate, Gillies Greta, Coleman Matthew, Lee Wei-Shern, Stephenson Sarah M, Maixner Wirginia, Harvey A Simon, Macdonald-Laurs Emma, Howell Katherine B, D'Arcy Colleen, Lockhart Paul J, Leventer Richard J, Kalnins Renata M, Clark Jonathan, Bennett Mark F, Bahlo Melanie, Scheffer Ingrid E, Perucca Piero, Berkovic Samuel F, Hildebrand Michael S

An integrated framework for functional dissection of variable expressivity in genetic disorders.

针对遗传疾病中可变表达的功能性剖析,构建一个综合框架

Sun Jiawan, Noss Serena, Banerjee Deepro, Bhavana Venkata Hemanjani, Smolen Corrine, Das Maitreya, Giardine Belinda, Prabhu Anisha, Amor David J, Pope Kate, Lockhart Paul J, Girirajan Santhosh

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

致病性和非致病性FGF14重复序列扩增的鉴定和表征

Mohren, Lars; Erdlenbruch, Friedrich; Leitão, Elsa; Kilpert, Fabian; Hönes, G Sebastian; Kaya, Sabine; Schröder, Christopher; Thieme, Andreas; Sturm, Marc; Park, Joohyun; Schlüter, Agatha; Ruiz, Montserrat; Morales de la Prida, Moisés; Casasnovas, Carlos; Becker, Kerstin; Roggenbuck, Ulla; Pechlivanis, Sonali; Kaiser, Frank J; Synofzik, Matthis; Wirth, Thomas; Anheim, Mathieu; Haack, Tobias B; Lockhart, Paul J; Jöckel, Karl-Heinz; Pujol, Aurora; Klebe, Stephan; Timmann, Dagmar; Depienne, Christel

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

美国大型脊髓小脑性共济失调(SCA27B)队列的临床、放射学和病理学特征

Abou Chaar, Widad; Eranki, Anirudh N; Stevens, Hannah A; Watson, Sonya L; Wong, Darice Y; Avila, Veronica S; Delfeld, Megan; Gary, Alexander J; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josée; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G; Collins, John; Clark, H Brent; Das, Soma; Fogel, Brent L; Gomez, Christopher M

Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B

RFC1阳性CANVAS患者的双侧前庭病变与FGF14相关性脊髓小脑性共济失调27B明显不同。

Borsche, Max; Thomsen, Mirja; Szmulewicz, David J; Lübbers, Bente; Hinrichs, Frauke; Lockhart, Paul J; Lohmann, Katja; Helmchen, Christoph; Brüggemann, Norbert