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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

出版商更正:对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

儿童期发病的TUBB4A相关脑白质营养不良症不同亚型的自然病程

Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Geneviève; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I; van der Knaap, Marjo S; Shults, Justine; Adang, Laura A; Vanderver, Adeline L

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

提高肾脏遗传疾病的诊断结果:KidGen 国家肾脏基因组学研究方案

Mallawaarachchi, Amali; McCarthy, Hugh; Forbes, Thomas A; Jayasinghe, Kushani; Patel, Chirag; Alexander, Stephen I; Boughtwood, Tiffany; Braithwaite, Jeffrey; Chakera, Aron; Crafter, Sam; Deveson, Ira W; Faull, Randall; Harris, Trudie; Johnstone, Lilian; Jose, Matthew; Leaver, Anna; Little, Melissa H; MacArthur, Daniel; Mattiske, Tessa; Mincham, Christine; Nicholls, Kathy; Quinlan, Catherine; Quinn, Michael C J; Rangan, Gopala; Ryan, Jessica; Simons, Cas; Smyth, Ian; Sundaram, Madhivanan; Trnka, Peter; Wedd, Laura; Biros, Erik; Stark, Zornitza; Mallett, Andrew

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