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Laura Southgate
Senior Lecturer in Genetics at School of Health & Medical Sciences
Computer Vision
Eating Disorders And Behaviors
Genetics
Pulmonary Hypertension Research And Treatments
Rare Diseases
Skin And Cellular Biology Research
6.1K
Citations
35
H-index
0
Patents
84
Publications
0
Grants
$0
Total Funding
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Research Contributions
Identification of Novel Genetic Variants in Pulmonary Arterial Hypertension
Identified rare sequence variations underlying heritable pulmonary arterial hypertension, contributing to a deeper understanding of the genetic architecture of the disease.
Nature Communications (2018)
Elucidating the Genetic Basis of Adams-Oliver Syndrome
Identified heterozygous loss-of-function mutations in DLL4 as a cause of Adams-Oliver Syndrome, providing insights into the genetic etiology of this rare disorder.
The American Journal of Human Genetics (2015)
Defining the Clinical Validity of Genes in Pulmonary Arterial Hypertension
Contributed to defining the clinical validity of genes reported to cause pulmonary arterial hypertension, improving diagnostic accuracy and genetic counseling.
Genetics in Medicine (2023)
Inflammatory Cytokines as Predictors of Survival in Pulmonary Arterial Hypertension
Demonstrated that elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension, highlighting potential therapeutic targets.
Circulation (2010)
Genome-Wide Association Studies in Cluster Headache
Identified risk loci for cluster headache through genome-wide association studies, implicating smoking as a causal risk factor.
Annals of Neurology (2021)
Role of ARHGAP31 Mutations in Syndromic Cutis Aplasia
Discovered that gain-of-function mutations of ARHGAP31 cause syndromic cutis aplasia and limb anomalies, expanding the understanding of this rare genetic condition.
The American Journal of Human Genetics (2011)
Set-Shifting Ability in Eating Disorders
Conducted a systematic review and meta-analysis of set-shifting ability in eating disorders, contributing to the understanding of cognitive deficits associated with these conditions.
Psychological Medicine (2007)
Research Highlights
Dr. Southgate is a Senior Lecturer in Genetics at St George's, University of London, specializing in the molecular genetics of pulmonary arterial hypertension, Adams-Oliver syndrome, and eating disorders, with a focus on identifying novel genetic variants and improving diagnostic precision. Her research significantly contributes to understanding the genetic basis of rare diseases and developing personalized treatment strategies.
Research Areas
Computer VisionEating Disorders And BehaviorsGeneticsPulmonary Hypertension Research And TreatmentsRare DiseasesSkin And Cellular Biology Research
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