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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

推进长读长纳米孔基因组组装和精确变异检测,以用于罕见病检测

Shloka Negi ,Sarah L Stenton ,Seth I Berger ,Paolo Canigiula ,Brandy McNulty ,Ivo Violich ,Joshua Gardner ,Todd Hillaker ,Sara M O'Rourke ,Melanie C O'Leary ,Elizabeth Carbonell ,Christina Austin-Tse ,Gabrielle Lemire ,Jillian Serrano ,Brian Mangilog ,Grace VanNoy ,Mikhail Kolmogorov ,Eric Vilain ,Anne O'Donnell-Luria ,Emmanuèle Délot ,Karen H Miga ,Jean Monlong ,Benedict Paten

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

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

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

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

一名患有神经发育障碍和免疫缺陷的患者体内存在新生TLK1和MDM1突变

Marina Villamor-Payà ,María Sanchiz-Calvo ,Jordann Smak ,Lynn Pais ,Malika Sud ,Uma Shankavaram ,Alysia Kern Lovgren ,Christina Austin-Tse ,Vijay S Ganesh ,Marina Gay ,Marta Vilaseca ,Gianluca Arauz-Garofalo ,Lluís Palenzuela ,Grace VanNoy ,Anne O'Donnell-Luria ,Travis H Stracker