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Laura Southgate
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Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension
E Soon, AM Holmes, CM Treacy, NJ Doughty, L Southgate, RD Machado, ...
Circulation 122 (9), 920-927, 2010
8102010
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
F Capon, P Di Meglio, J Szaub, NJ Prescott, C Dunster, L Baumber, ...
Human genetics 122, 201-206, 2007
5492007
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
G Thorleifsson, GB Walters, AW Hewitt, G Masson, A Helgason, A DeWan, ...
Nature genetics 42 (10), 906-909, 2010
4572010
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4272017
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4132020
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
S Gräf, M Haimel, M Bleda, C Hadinnapola, L Southgate, W Li, J Hodgson, ...
Nature communications 9 (1), 1416, 2018
3542018
Health and population effects of rare gene knockouts in adult humans with related parents
VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ...
Science 352 (6284), 474-477, 2016
3202016
Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects
RD Machado, L Southgate, CA Eichstaedt, MA Aldred, ED Austin, ...
Human mutation 36 (12), 1113-1127, 2015
2432015
Molecular genetic framework underlying pulmonary arterial hypertension
L Southgate, RD Machado, S Gräf, NW Morrell
Nature Reviews Cardiology 17 (2), 85-95, 2020
2282020
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
MT Nasim, T Ogo, M Ahmed, R Randall, HM Chowdhury, KM Snape, ...
Human mutation 32 (12), 1385-1389, 2011
2262011
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
P Tarpey, S Thomas, N Sarvananthan, U Mallya, S Lisgo, CJ Talbot, ...
Nature genetics 38 (11), 1242-1244, 2006
2162006
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ...
Nature 583 (7814), 90-95, 2020
1812020
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
CJ Rhodes, K Batai, M Bleda, M Haimel, L Southgate, M Germain, ...
The Lancet Respiratory Medicine 7 (3), 227-238, 2019
1552019
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
L Southgate, RD Machado, KM Snape, M Primeau, D Dafou, DM Ruddy, ...
The American Journal of Human Genetics 88 (5), 574-585, 2011
1302011
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136 (21), 2022-2033, 2017
1282017
Haploinsufficiency of the NOTCH1 receptor as a cause of Adams–Oliver syndrome with variable cardiac anomalies
L Southgate, M Sukalo, ASV Karountzos, EJ Taylor, CS Collinson, ...
Circulation: Cardiovascular Genetics 8 (4), 572-581, 2015
1062015
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension
J Hodgson, EM Swietlik, RM Salmon, C Hadinnapola, I Nikolic, J Wharton, ...
American journal of respiratory and critical care medicine 201 (5), 575-585, 2020
1022020
A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort
L Baumber, C Sjostrand, M Leone, H Harty, G Bussone, J Hillert, ...
Neurology 66 (12), 1888-1893, 2006
972006
Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome
JAN Meester, L Southgate, AB Stittrich, H Venselaar, SJA Beekmans, ...
The American Journal of Human Genetics 97 (3), 475-482, 2015
952015
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
NV Morgan, P Gissen, S Sharif, L Baumber, J Sutherland, DA Kelly, ...
Human genetics 111, 456-461, 2002
862002
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