List of works - Laura Southgate

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

scientific article published in July 2013

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

scientific article published on 01 March 2020

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

scientific article published on 12 September 2010

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

scientific article published on 21 April 2015

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

scientific article

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

scientific article published on 16 August 2010

Elucidating the molecular genetic basis of cluster headache: delineation of the genetic architecture by exome sequencing

scholarly article by Laura Southgate et al published February 2013 in The journal of headache and pain : official journal of the Italian Society for the Study of Headaches

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

scientific article

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

scientific article published on 05 December 2018

Health and population effects of rare gene knockouts in adult humans with related parents

scientific article

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

scientific article

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

scientific article published on 12 April 2018

Length of uninterrupted repeats determines instability at the unstable mouse expanded simple tandem repeat family MMS10 derived from independent SINE B1 elements

scientific article published in February 2001

Letter regarding “Distal Limb Defects and Aplasia Cutis: Adams–Oliver Syndrome”

scientific article published on 09 July 2016

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

scientific article published on 12 February 2020

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

scientific article published on 11 October 2011

Molecular genetic framework underlying pulmonary arterial hypertension

scientific article published on 12 August 2019

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

scientific article published on 23 September 2015

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

scientific article

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

scientific article published on 28 September 2017

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

scientific article published on 21 September 2015

Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

scientific article published on 30 April 2020

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension

scientific article published on 11 November 2020

List of works by Laura Southgate

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

Elucidating the molecular genetic basis of cluster headache: delineation of the genetic architecture by exome sequencing

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Health and population effects of rare gene knockouts in adult humans with related parents

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Length of uninterrupted repeats determines instability at the unstable mouse expanded simple tandem repeat family MMS10 derived from independent SINE B1 elements

Letter regarding “Distal Limb Defects and Aplasia Cutis: Adams–Oliver Syndrome”

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

Molecular genetic framework underlying pulmonary arterial hypertension

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension