Publications by authors named "Alan Pittman"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Alan M Pittman

J Clin Invest· December 2025

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Further characterisation of immortalised human lymphatic endothelial cells to explore their transcriptomic profile and VEGFC response.
Kazim Ogmen, Ruby Moy, Sara E Dobbins, Lotte van den Bent, Onno Kranenburg, Alan Pittman

Sci Rep· December 2025

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Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.
Martin Bird, Chris Jyun-Peng Tung, Alan M Pittman, Elijah R Behr, Axel Nohturfft

Eur J Hum Genet· July 2025

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Ex Vivo Host Transcriptomics During Cryptococcus neoformans, Cryptococcus gattii, and Candida albicans Infection of Peripheral Blood Mononuclear Cells From South African Volunteers.
Ronan M Doyle, Shichina Kannambath, Alan Pittman, Rene Goliath, Vinod Kumar

J Infect Dis· February 2025

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RNA Therapy for Oncogenic NRAS-Driven Nevi Induces Apoptosis.
Dale Bryant, Sara Barberan-Martin, Ruhina Maeshima, Ignacio Del Valle Torres, Mohammad Rabii, Alan Pittman

J Invest Dermatol· January 2025

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Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.
Martin Bird, Antoine Rimbert, Alan M Pittman, Steve E Humphries, Marta Futema

Eur J Prev Cardiol· November 2024

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Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
Satyamaanasa Polubothu, Melissa Riachi, Paulina Stadnik, Olumide Ogunbiyi, Regula Brändli-Wälchli, Alan Pittman

J Am Acad Dermatol· June 2024

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The Intellectual Disability Risk Gene Regulates Long-Term Memory Consolidation in the Hippocampus.
Leticia Pérez-Sisqués, Shail U Bhatt, Rugile Matuleviciute, Talia E Gileadi, Eniko Kramar, Alan M Pittman

J Neurosci· May 2024

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Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Sara Barberan Martin, Satyamaanasa Polubothu, Alicia Lopez Bruzos, Gavin Kelly, Stuart Horswell, Alan Pittman

J Invest Dermatol· March 2024

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RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.
Yael Ben-Haim, Martin Bird, David Johnson, Saidi Mohiddin, Liliana Favaloro, Alan Pittman

J Am Coll Cardiol· March 2024

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Presacral malakoplakia presenting as foot drop: a case report.
Tom A Yates, Katie Devlin, Abed Arnaout, William Hurt, Neil Stone, Alan Pittman

J Med Case Rep· April 2023

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Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors.
Yann C Klimentidis, Zhao Chen, Manuel L Gonzalez-Garay, Dionysios Grigoriadis, Ege Sackey, Alan Pittman

Eur J Hum Genet· March 2023

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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Alan M Pittman

Genet Med· February 2023

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Genetic Insights from Consanguineous Cardiomyopathy Families.
Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Alan Michael Pittman

Genes (Basel)· January 2023

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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Marc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, Emily Annuario, Amy E Monaghan, Alan Pittman

Brain· December 2022

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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M Fontelonga, Alan M Pittman

J Am Heart Assoc· December 2022

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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Alan Pittman

PLoS One· October 2022

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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
William J Young, Najim Lahrouchi, Aaron Isaacs, ThuyVy Duong, Luisa Foco, Alan Pittman

Nat Commun· September 2022

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Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Belinda Gray, Alban-Elouen Baruteau, Albert A Antolin, Alan Pittman, Giselle Sarganas

Circ Genom Precis Med· February 2022

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Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
Melissa Riachi, Satyamaanasa Polubothu, Paulina Stadnik, Connor Hughes, Sara Barberan Martin, Alan Pittman

J Invest Dermatol· December 2021

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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Satyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, Daniël A Lionarons, Mark Harland, Alan Pittman

Genet Med· September 2021

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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Olivia V Poole, Chiara Pizzamiglio, David Murphy, Micol Falabella, William L Macken, Alan Pittman

Ann Neurol· June 2021

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Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.
Luis R Lopes, David Murphy, Enrico Bugiardini, Reem Salem, Joanna Jager, Alan M Pittman

Circ Genom Precis Med· June 2021

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MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Roberto Simone, Faiza Javad, Warren Emmett, Oscar G Wilkins, Filipa Lourenço Almeida, Alan Pittman

Nature· June 2021

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Alejandro Horga, Andreea Manole, Alice L Mitchell, Enrico Bugiardini, Iain P Hargreaves, Alan M Pittman

Mol Biol Rep· March 2021

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