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

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

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

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

两名互不相关的颅缝早闭和桡尺骨缝早闭患者携带纯合SMAD6变异

Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T; Van Laer, Lut; Wilkie, Andrew O M; Loeys, Bart

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

遗传性 CD19 缺陷不影响浆细胞的形成或对 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

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

LRRC56 的双等位基因突变编码一种与鞭毛内运输相关的蛋白质,导致粘液纤毛清除和侧向性缺陷

Bonnefoy Serge, Watson Christopher M, Kernohan Kristin D, Lemos Moara, Hutchinson Sebastian, Poulter James A, Crinnion Laura A, Berry Ian, Simmonds Jennifer, Vasudevan Pradeep, O'Callaghan Chris, Hirst Robert A, Rutman Andrew, Huang Lijia, Hartley Taila, Grynspan David, Moya Eduardo, Li Chunmei, Carr Ian M, Bonthron David T, Leroux Michel, Boycott Kym M, Bastin Philippe, Sheridan Eamonn G

Cantú syndrome with coexisting familial pituitary adenoma

坎图综合征合并家族性垂体腺瘤

Marques, Pedro; Spencer, Rupert; Morrison, Patrick J; Carr, Ian M; Dang, Mary N; Bonthron, David T; Hunter, Steven; Korbonits, Márta

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene

SMAD4加工假基因的特征分析和基因组定位

Watson, Christopher M; Camm, Nick; Crinnion, Laura A; Antanaviciute, Agne; Adlard, Julian; Markham, Alexander F; Carr, Ian M; Charlton, Ruth; Bonthron, David T

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

α8微管蛋白敲除小鼠模型表明,该基因可能在精子发生中发挥作用,但在大脑发育中则不然。

Diggle, Christine P; Martinez-Garay, Isabel; Molnar, Zoltan; Brinkworth, Martin H; White, Ed; Fowler, Ewan; Hughes, Ruth; Hayward, Bruce E; Carr, Ian M; Watson, Christopher M; Crinnion, Laura; Asipu, Aruna; Woodman, Ben; Coletta, P Louise; Markham, Alexander F; Dear, T Neil; Bonthron, David T; Peckham, Michelle; Morrison, Ewan E; Sheridan, Eamonn

A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes.

来自 SINE 逆转录转座子的组织特异性启动子驱动人类淋巴细胞中 PLAGL1 的双等位基因表达

Smith Claire E L, Alexandraki Alexia, Cordery Sarah F, Parmar Rekha, Bonthron David T, Valleley Elizabeth M A

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

PDE10A基因的双等位基因突变导致纹状体PDE10A缺失,并引发婴儿期发病的多动症。

Diggle, Christine P; Sukoff Rizzo, Stacey J; Popiolek, Michael; Hinttala, Reetta; Schülke, Jan-Philip; Kurian, Manju A; Carr, Ian M; Markham, Alexander F; Bonthron, David T; Watson, Christopher; Sharif, Saghira Malik; Reinhart, Veronica; James, Larry C; Vanase-Frawley, Michelle A; Charych, Erik; Allen, Melanie; Harms, John; Schmidt, Christopher J; Ng, Joanne; Pysden, Karen; Strick, Christine; Vieira, Päivi; Mankinen, Katariina; Kokkonen, Hannaleena; Kallioinen, Matti; Sormunen, Raija; Rinne, Juha O; Johansson, Jarkko; Alakurtti, Kati; Huilaja, Laura; Hurskainen, Tiina; Tasanen, Kaisa; Anttila, Eija; Marques, Tiago Reis; Howes, Oliver; Politis, Marius; Fahiminiya, Somayyeh; Nguyen, Khanh Q; Majewski, Jacek; Uusimaa, Johanna; Sheridan, Eamonn; Brandon, Nicholas J