Cebola Inês - Department of Medicine, Imperial College London

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论文共 46 篇作者统计合作学者相似作者

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Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia Via Reduction in Protein Stability

Virginia Clowes, Xiaolun Ma,Hannah Maude, Catherine Dennis, Qing Gao,Geraldine Quinn, Edel A. O'Toole,Kapila Batta,Ines Cebola,Wei Cui

HUMAN MUTATION (2024)

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Liver Kinase B1 (LKB1) Regulates the Epigenetic Landscape of Mouse Pancreatic Beta Cells

Nejc Haberman,Rebecca Cheung,Grazia Pizza,Nevena Cvetesic,Dorka Nagy,Hannah Maude,Lorea Blazquez,Boris Lenhard,Ines Cebola,Guy A. Rutter,Aida Martinez-Sanchez

FASEB JOURNALno. 16 (2024)

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Transcriptional Pausing As a Molecular Mechanism of Sprouting Angiogenesis

Ines Cebola,Graeme M. Birdsey,Anna M. Randi

NATURE CARDIOVASCULAR RESEARCHno. 10 (2024): 1184-1186

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Publisher Correction: Rare Variant Analyses in 51,256 Type 2 Diabetes Cases and 370,487 Controls Reveal the Pathogenicity Spectrum of Monogenic Diabetes Genes

Alicia Huerta-Chagoya,Philip Schroeder,Ravi Mandla, Jiang Li, Lowri Morris, Maheak Vora, Ahmed Alkanaq,Dorka Nagy,Lukasz Szczerbinski,Jesper G S Madsen,Silvia Bonàs-Guarch, Fanny Mollandin,Joanne B Cole,Bianca Porneala,Kenneth Westerman,Josephine H Li,Toni I Pollin,Jose C Florez,Anna L Gloyn,David J Carey,Inês Cebola,Uyenlinh L Mirshahi,Alisa K Manning, Aaron Leong,Miriam Udler,Josep M Mercader

Nature geneticsno. 11 (2024): 2370-2379

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The Gene Discovery Clinic: a Personalised Medicine Approach to Diagnose Conditions Not Identified by WGS

Virginia Clowes,Harry Leitch,Fleur Van Dijk,Ines Cebola,Jan Cobben

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 688-688

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KLF6 in Pulmonary Hypertension: The Dual Role of Friend and Foe

Rehab Alharbi,Nadia Fernandes,Hannah Maude,Adam Fellows,Richard D Williams,Chien-Nien Chen, Nathalie Lambie,Merve Keles,Nik Matthews,May Al-Sahaf,Minzhe Guo,Lan Zhao,Allan Lawrie,Jeffrey A. Whitsett,Inês Cebola,Beata Wojciak-Stothard

biorxiv（2024）

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276-OR: Common Variant Polygenic Risk Score Influences Penetrance of Rare Variants in Monogenic Diabetes Genes

Alicia Huerta,Ravi Mandla,Dorka Nagy,Lukasz Szczerbinski,Jesper G. S. Madsen,Joanne B. Cole,Bianca Porneala,Kenneth E. Westerman,Josephine H. Li,Toni I. Pollin,Jose C. Florez,Anna L. Gloyn,Ines Cebola,Alisa Manning,Aaron Leong,Miriam Udler,Josep M. Mercader

Diabetesno. Supplement_1 (2024)

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Regulatory De Novo Mutations Underlying Intellectual Disability

Matias G. De Vas,Fanny Boulet, Shweta S. Joshi,Myles G. Garstang,Tahir N. Khan,Goutham Atla,David Parry,David Moore,Ines Cebola,Shuchen Zhang,Wei Cui,Anne K. Lampe,Wayne W. Lam,Jorge Ferrer,Madapura M. Pradeepa,Santosh S. Atanur

Life Science Alliance（2023）

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Pre-RNA splicing in metabolic homeostasis and liver disease

Andrew M Jobbins,Sijia Yu,Helen A B Paterson,Hannah Maude, Antonia Kefala-Stavridi,Christian Speck,Inês Cebola,Santiago Vernia

Trends in endocrinology and metabolism: TEM（2023）

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