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

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

RP9 再探;RP9 p.(H137L) 突变仍然是显性剪接因子视网膜色素变性的可能病因。

Chang, Leon; Poulter, James A; Webster, Andrew R; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J; Watson, Christopher M; Inglehearn, Chris F

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta

釉质发育不全症中的 ACP4 变异

Liu, Lu; Au, Cheuk Wang; Hany, Ummey; Rigby, Alice L; Chauhan, Anesha; Brown, Catriona; Sims, Jessie; Murillo, Gina; Acosta de Carmargo, Marìa Gabriela; Inglehearn, Chris F; Watson, Christopher M; Mighell, Alan J; Smith, Claire E L

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

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease

成人斯蒂尔病患者的遗传图谱和新型炎症生物标志物特征分析

Topping, Joanne; Chang, Leon; Nadat, Fatima; Poulter, James A; Ibbotson, Alice; Lara-Reyna, Samuel; Watson, Christopher M; Carter, Clive; Pournara, Linda P; Zernicke, Jan; Ross, Rebecca L; Cargo, Catherine; Lyons, Paul A; Smith, Kenneth G C; Del Galdo, Francesco; Rech, Jürgen; Fautrel, Bruno; Feist, Eugen; McDermott, Michael F; Savic, Sinisa

Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12

更正:遗传性 CD19 缺陷不会损害浆细胞的形成或对 CXCL12 的反应

Walker, Kieran; Mistry, Anoop; Watson, Christopher M; Nadat, Fatima; O'Callaghan, Eleanor; Care, Matthew; Crinnion, Laura A; Arumugakani, Gururaj; Bonthron, David T; Carter, Clive; Doody, Gina M; Savic, Sinisa

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy

长片段PCR和纳米孔测序技术可实现对Fuchs内皮角膜营养不良中TCF4三核苷酸重复序列扩增的高通量检测

Alayed, Bushra; Siddiqui, Salina; Anand, Seema; Inglehearn, Chris F; Watson, Christopher M; Ali, Manir

Empowering learners through student-led integration of environmental health into small group discussions

通过学生主导的小组讨论,将环境健康融入学习者,从而增强学习者的能力。

Koh, Eunheh; Kim, Joyce; Aldihri, Fatma; Huang, Hannah; Murray, Michael; Winston, Nicole; Watson, Christopher M

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci

利用定制的smMIP试剂对非综合征型牙釉质发育不全患者队列进行基因筛查,以选择性富集目标基因位点

Hany, Ummey; Watson, Christopher M; Liu, Lu; Nikolopoulos, Georgios; Smith, Claire E L; Poulter, James A; Antanaviciute, Agne; Rigby, Alice; Balmer, Richard; Brown, Catriona J; Patel, Anesha; de Camargo, María Gabriela Acosta; Rodd, Helen D; Moffat, Michelle; Murillo, Gina; Mudawi, Amal; Jafri, Hussain; Mighell, Alan J; Inglehearn, Chris F

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data

AgileMultiIdeogram:利用Illumina短读测序数据快速识别和可视化纯合区域

Watson, Christopher M; Lascelles, Carolina; Raynor, Morag; Elpidorou, Marilena; Hany, Ummey; Crinnion, Laura; Johnson, Colin A; Sheridan, Eamonn; Markham, Alexander F; Poulter, James A; Bonthron, David T; Carr, Ian M

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

COL17A1杂合变异是牙釉质发育不全的常见病因。

Hany, Ummey; Watson, Christopher M; Liu, Lu; Smith, Claire E L; Harfoush, Asmaa; Poulter, James A; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, María Gabriela; Rodd, Helen D; Jafri, Hussain; Antanaviciute, Agne; Moffat, Michelle; Al-Jawad, Maisoon; Inglehearn, Chris F; Mighell, Alan J