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

Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders

作者更正:复杂的新生结构变异是罕见疾病的一个被低估的原因。

Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O Isaac; Neville, Matthew D C; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh

Identifying novel prodromal symptoms of eclampsia: A two-country, case-control study

识别子痫新前驱症状:一项跨国病例对照研究

Hastie, Roxanne; Ahmed, Farhatulain; Mehdipour, Parinaz; Yan, Bernard; Walker, Susan P; Visser, Jacqui; Bashir, Anam; Gurrin, Lyle; Lindquist, Anthea; Atkinson, Jessica A; Cluver, Catherine; Bergman, Lina; Tong, Stephen

Blended Delivery of a Primary Care Parenting Program for Child Development: A Randomized Clinical Trial

混合式初级保健育儿计划促进儿童发展:一项随机临床试验

Chang, Susan M; Smith, Joanne A; Wright, Amika S; Rowe-Porter, Julia; Shaw-Kelly, Kemisha; Lopez-Boo, Florencia; Walker, Susan P

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Food, Built and Socio-Economic Environments and Maternal-Infant Outcomes: A Geospatial and Structural Equation Modelling of 163 000 Births

食物、建筑和社会经济环境与母婴结局:基于163000例出生数据的地理空间和结构方程模型

Marzan, Melvin B; Rolnik, Daniel L; Jiang, Heng; Said, Joanne M; Palmer, Kirsten R; Potenza, Stephanie; Pritchard, Natasha; Whitehead, Clare L; Sheehan, Penelope M; Ford, Jolyon; Mol, Ben W; Walker, Susan P; Hui, Lisa

High-dimensional multiomics reveals perturbations to IL-6/IL-6R axis and RUNX3 in CD4(+) T cells during third-trimester pregnancy

高维多组学揭示妊娠晚期CD4(+) T细胞中IL-6/IL-6R轴和RUNX3的扰动

Habel, Jennifer R; Nguyen, Thi H O; de Alwis, Natasha; Allen, E Kaitlynn; Li, Shihan; Skinner, Morgan J; Juno, Jennifer A; Kent, Stephen J; Bond, Katherine; Williamson, Deborah A; Lappas, Martha; Hannan, Natalie J; Walker, Susan; Schroeder, Jan; Crawford, Jeremy Chase; Thomas, Paul G; Kedzierska, Katherine; Rowntree, Louise C

Trends in the Use and Indications for Intracytoplasmic Sperm Injection Between 2005 and 2017: A State-Wide Descriptive Cohort Analysis

2005年至2017年胞浆内单精子注射的使用及适应症趋势:一项全州范围的描述性队列分析

Kink, Aleah; Mehdipour, Parinaz; Hiscock, Richard J; Vollenhoven, Beverley J; Stern, Catharyn J; Walker, Susan P; Green, Mark P; Osianlis, Tiki; Agresta, Franca; Wilkinson, David; Tong, Stephen; Hastie, Roxanne; Kennedy, Amber L; Lindquist, Anthea C

High-dimensional multiomics reveals perturbations to IL-6/IL-6R axis and RUNX3 in CD4+ T cells during third trimester pregnancy

高维多组学揭示妊娠晚期CD4+ T细胞中IL-6/IL-6R轴和RUNX3的扰动

Habel, Jennifer; Nguyen, Thi H O; de Alwis, Natasha; Allen, E Kaitlynn; Li, Shihan; Juno, Jennifer A; Kent, Stephen J; Bond, Katherine; Williamson, Deborah; Lappas, Martha; Hannan, Natalie; Walker, Susan; Schroeder, Jan; Crawford, Jeremy Chase; Thomas, Paul; Kedzierska, Katherine; Rowntree, Louise

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana