Laura Southgate

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Senior Lecturer in Genetics

St George’s, University of London

United Kingdom

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About

Dr. Laura Southgate is a Senior Lecturer in Genetics at St George's, University of London, UK. Her research focuses on the genetics of pulmonary arterial hypertension, including the clinical classification of BMPR2 variants and the molecular genetics in both adults and children. She has contributed to significant studies on the genome-wide association of chronic thromboembolic pulmonary hypertension and the genetic underpinnings of related conditions.

Recent Grants

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Characterisation of the cellular role of ATP13A3 and functional impact of variation underlying pulmonary arterial hypertension

Open Date: 2021-05-01

Close Date: 2023-04-01

Articles (14)

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2021

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2021

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2021

Collaborators (21)

Andrew Sweatt

Clinical Assistant Professor

Stanford University

UNITED STATES

Laura Southgate

Research Interests

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About

Recent Grants

Articles (14)

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in pulmonary arterial hypertension resolves variants of unclear pathogenicity in ClinVar.

Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism.

Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.

Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Molecular genetics of pulmonary hypertension in children.

Mining the plasma proteome for insights into the molecular pathology of pulmonary arterial hypertension.

Extraction and high-throughput sequencing of oak heartwood DNA: Assessing the feasibility of genome-wide DNA methylation profiling.

Pulmonary arterial hypertension: A deeper evaluation of genetic risk in the -omics era.

Genome‐wide association study identifies risk loci for cluster headache.

The DOCK protein family in vascular development and disease.

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Collaborators (21)

Andrew Sweatt

Pär Ingemar Johansson

Aster Harder

Timothy M. Fernandes

Rajiv David Machado

Andrea Olschewski

Víctor J. Gallardo López

Rebecca Oakey

Martin Wilkins

Rozenn Quarck

Marta Bleda

Veeranna Maddipati

Richard Buggs

shahin moledina

Wendy Chung

Alfredo Ramirez

Leonie Johanna Jahn

Julie Hoover-Fong

Michael Newnham

Carla Molteni

Christian Kubisch

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