David T. Bonthron - Publications, H-index & Citations

David T. Bonthron

university of leeds

60H指数

183论文数

1.5W被引数

收录论文 82

发表时间

Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12 更正：遗传性CD19缺陷不损害浆细胞形成或对CXCL12的反应

Journal of Clinical Immunology

IF5.7

2025-05-29

OAAI

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

Inhibition of ketohexokinase prevents fructose-induced insulin resistance and endothelial dysfunction in high fat and sucrose-fed mice via enhancing energy expenditure

EUROPEAN HEART JOURNAL

IF35.6

2024-10-28

PREAI

Viswambharan, H.; Visnagri, A.; Bonthron, D. T.; Kearney, M. T.

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-01-30

OAAI

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

Ketohexokinase inhibition protects against sucrose-induced endothelial dysfunction and insulin resistance

HEART

IF4.4

2023-06-02

OAAI

Viswambharan, Hema; Visnagri, Asjad; Bonthron, David; Kearney, Mark

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12 遗传性CD19缺乏不会损害浆细胞的形成或对CXCL12的反应

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2023-05-29

OAAI

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-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant 长读测序可解析从头致病性UBE3A变体的起源亲本

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-04-12

PREAI

Watson, Christopher Mark; Jackson, Lucy; Crinnion, Laura A.; Bonthron, David T.; Sheridan, Eamonn

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

LABORATORY INVESTIGATION

IF4.2

2021-04-01

OAAI

Watson, Christopher M.; Crinnion, Laura A.; Lindsay, Helen; Mitchell, Rowena; Camm, Nick; Robinson, Rachel; Joyce, Caroline; Tanteles, George A.; Halloran, Domhnall J. O'; Pena, Sergio D. J.; Carr, Ian M.; Bonthron, David T.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

NEURON

IF15

2021-01-01

OAAI

Chai, Guoliang; Webb, Alice; Li, Chen; Antaki, Danny; Lee, Sangmoon; Breuss, Martin W.; Lang, Nhi; Stanley, Valentina; Anzenberg, Paula; Yang, Xiaoxu; Marshall, Trevor; Gaffney, Patrick; Wierenga, Klaas J.; Chung, Brian Hon-Yin; Tsang, Mandy Ho-Yin; Pais, Lynn S.; Lovgren, Alysia Kern; VanNoy, Grace E.; Rehm, Heidi L.; Mirzaa, Ghayda; Leon, Eyby; Diaz, Jullianne; Neumann, Alexander; Kalverda, Arnout P.; Manfield, Iain W.; Parry, David A.; Logan, Clare, V; Johnson, Colin A.; Bonthron, David T.; Valleley, Elizabeth M. A.; Issa, Mahmoud Y.; Abdel-Ghafar, Sherif F.; Abdel-Hamid, Mohamed S.; Jennings, Patricia; Zaki, Maha S.; Sheridan, Eamonn; Gleeson, Joseph G.

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

LABORATORY INVESTIGATION

IF4.2

2020-01-01

OAAI

Watson, Christopher M.; Crinnion, Laura A.; Hewitt, Sarah; Bates, Jennifer; Robinson, Rachel; Carr, Ian M.; Sheridan, Eamonn; Adlard, Julian; Bonthron, David T.

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome

HUMAN MUTATION

IF3.7

2019-11-11

OAAI

Watson, Christopher M.; Dean, Philip; Camm, Nick; Bates, Jennifer; Carr, Ian M.; Gardiner, Carol A.; Bonthron, David T.

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2019-04-16

OAAI

Watson, Christopher M.; Stockdale, Claire; Berry, Ian; Crinnion, Laura A.; Carr, Ian M.; Cant, Andrew; Bonthron, David T.; Savic, Sinisa

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-11-01

OAAI

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.

CantA syndrome with coexisting familial pituitary adenoma

ENDOCRINE

IF2.9

2018-01-11

OAAI

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

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene SMAD4处理的假基因的表征和基因组定位

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2017-11-01

OAAI

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

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data m6aViewer: 用于检测、分析和可视化来自m6A-seq/me-rip测序数据的N6-methyladenosine峰的软件

RNA

IF5

2017-07-19

OAAI

Antanaviciute, Agne; Baquero-Perez, Belinda; Watson, Christopher M.; Harrison, Sally M.; Lascelles, Carolina; Crinnion, Laura; Markham, Alexander F.; Bonthron, David T.; Whitehouse, Adrian; Carr, Ian M.

Genetics meets pathology - an increasingly important relationship

JOURNAL OF PATHOLOGY

IF5.2

2016-12-19

OAAI

Bonthron, David T.; Foulkes, William D.

SUCROSE- AND HIGH FAT-INDUCED INSULIN RESISTANCE LEADS TO ENDOTHELIAL DYSFUNCTION AND IS ASSOCIATED WITH KETOHEXOKINASE ACTIVATION

HEART

IF4.4

2016-10-01

PREAI

Abudushalamu, Yilizila; Visnagri, Asjad; Viswambharan, Hema; Bonthron, David; Kearney, Mark; Asipu, Aruna

Biallelic Mutations in PDE1 0A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-04-01

OAAI

Diggle, Christine P.; Rizzo, Stacey J. Sukoff; Popiolek, Michael; Hinttala, Reetta; Schuelke, 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, Paeivi; 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.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-01-05

OAAI

Watson, Christopher M.; Crinnion, Laura A.; Murphy, Helen; Newbould, Melanie; Harrison, Sally M.; Lascelles, Carolina; Antanaviciute, Agne; Carr, Ian M.; Sheridan, Eamonn; Bonthron, David T.; Smith, Audrey

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment

JOURNAL OF RHEUMATOLOGY

IF3.4

2015-11-01

OAAI

Giancane, Gabriella; Diggle, Christine P.; Legger, Elizabeth G.; Tekstra, Janneke; Prakken, Berent; Brenkman, Arjan B.; Carr, Ian M.; Markham, Alexander F.; Bonthron, David T.; Wulffraat, Nico; Diggle, C. P.

研究方向