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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

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

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

利用基因组聚合数据库,探索超过 80 万人类样本中具有临床意义的变异的穿透率。

Gudmundsson, Sanna; Singer-Berk, Moriel; Stenton, Sarah L; Goodrich, Julia K; Wilson, Michael W; Einson, Jonah; Watts, Nicholas A; Lappalainen, Tuuli; Rehm, Heidi L; MacArthur, Daniel G; O'Donnell-Luria, Anne

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus

与PITX2基因和保守增强子位点分离的兆碱基尺度倒位相关的Axenfeld-Rieger综合征

Mitchell, Lucas A; Schmidt, Joshua; Souzeau, Emmanuelle; Knight, Lachlan S W; Maxwell, Giorgina; Dubowsky, Andrew; Lim, Ridia; Formaini, Edward; Welland, Matthew; Simons, Cas; MacArthur, Daniel G; Wiggs, Janey L; Craig, Jamie E; Siggs, Owen M

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

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

TNNT2 中一种罕见的剪接位点变异:基因组参考数据集需要祖先多样性

Butters, Alexandra; Thomson, Kate; Harrington, Franki; Henden, Natasha; McGuire, Karen; Byrne, Alicia B; Bryen, Samantha; McGurk, Kathryn A; Leask, Megan; Ackerman, Michael J; Atherton, John; Bos, Johan M; Caleshu, Colleen; Day, Sharlene M; Dunn, Kyla; Hayes, Ian; Juang, Jimmy; McGaughran, Julie; Nowak, Natalie; Parikh, Victoria N; Ronan, Anne; Semsarian, Christopher; Tardiff, Jil C; Tiemensma, Marianne; Merriman, Tony R; Ware, James S; Skinner, Jonathan R; MacArthur, Daniel G; Siggs, Owen M; Bagnall, Richard D; Ingles, Jodie

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

多态性串联重复序列影响人类免疫系统中细胞类型特异性基因表达。

Tanudisastro Hope A, Cuomo Anna S E, Weisburd Ben, Welland Matthew, Spenceley Eleanor, Franklin Michael, Xue Angli, Bowen Blake, Wing Kristof, Tang Owen, Gray Michael, Reis Andre L M, Margoliash Jonathan, Kurtas Nehir E, Pullin Jeffrey M, Lee Arthur S, Brand Harrison, Harper Michael, Bobowik Katalina, Silk Michael, Marshall John, Bakiris Vivian, Madala Bindu Swapna, Uren Caitlin, Bartie Caitlin, Senabouth Anne, Dashnow Harriet, Fearnley Liam, Martin-Trujillo Alejandro, Dolzhenko Egor, Qiao Zhen, Grieve Stuart M, Nguyen Tung, Ben-David Eyal, Chen Ling, Farh Kyle Kai-How, Talkowski Michael, Alexander Stephen I, Siggs Owen M, Gruenschloss Leonhard, Nicholas Hannah R, Piscionere Jennifer, Simons Cas, Wallace Chris, Gymrek Melissa, Deveson Ira W, Hewitt Alex W, Figtree Gemma A, de Lange Katrina M, Powell Joseph E, MacArthur Daniel G

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

由 lncRNA 基因 CHASERR 缺失引起的神经发育障碍

Ganesh, Vijay S; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C; Monin, Pauline; O'Leary, Melanie C; Goodrich, Julia K; Garimella, Kiran V; England, Eleina; Weisburd, Ben; Aguet, François; Bacino, Carlos A; Murdock, David R; Dai, Hongzheng; Rosenfeld, Jill A; Emrick, Lisa T; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisée; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; MacArthur, Daniel G; Ulitsky, Igor; Carvill, Gemma L; O'Donnell-Luria, Anne