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

RICTOR variants are associated with neurodevelopmental disorders

RICTOR基因变异与神经发育障碍相关

Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angélique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W T; Elserafy, Noha; Blair, Edward M; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J; Pfundt, Rolph; Boycott, Kym M; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Moutton, Sébastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B A; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

来自“十万基因组计划”的次要(补充)发现:疾病表现、医疗保健结果和信息披露成本

Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Hastings Ward, Jillian; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Rourke, Anthony W; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth

Sudden cardiac death associated with a pathogenic genetic variant in HCN4

与HCN4基因致病性变异相关的猝死

Parameswaran, Gokul; Blair, Edward; Watkins, Hugh C; Ormerod, Julian Om

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

对携带致病性新生突变的婴儿出生后进行个性化复发风险评估

Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne

Pandemic-Induced Telework Divide of Federal Workforces

疫情引发的联邦雇员远程办公分化

Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; Fisher, Simon E; Zweier, Christiane; Morgan, Angela T; Kim, Jungin

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

TTC5综合征:一种严重且可识别疾病的临床和分子谱

Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

马凡综合征的肌肉骨骼表现:诊断、影响和治疗

Pollock, Lily; Ridout, Ashley; Teh, James; Nnadi, Colin; Stavroulias, Dionisios; Pitcher, Alex; Blair, Edward; Wordsworth, Paul; Vincent, Tonia L

Loeys-Dietz syndrome in pregnancy

妊娠期洛伊斯-迪茨综合征

Thomas, Katharine E; Hogan, Jennifer; Pitcher, Alex; Mackillop, Lucy; Blair, Edward; Frise, Charlotte J

Reevaluation of the South Asian MYBPC3(Δ25bp) Intronic Deletion in Hypertrophic Cardiomyopathy

对肥厚型心肌病中南亚MYBPC3(Δ25bp)内含子缺失的重新评估

Harper, Andrew R; Bowman, Michael; Hayesmoore, Jesse B G; Sage, Helen; Salatino, Silvia; Blair, Edward; Campbell, Carolyn; Currie, Bethany; Goel, Anuj; McGuire, Karen; Ormondroyd, Elizabeth; Sergeant, Kate; Waring, Adam; Woodley, Jessica; Kramer, Christopher M; Neubauer, Stefan; Farrall, Martin; Watkins, Hugh; Thomson, Kate L