| 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 | 792 | 2010 |
| 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 | 549 | 2007 |
| 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 | 448 | 2010 |
| 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 | 408 | 2017 |
| 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 | 392 | 2020 |
| 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 | 341 | 2018 |
| 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 | 317 | 2016 |
| 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 | 240 | 2015 |
| 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 | 222 | 2011 |
| Molecular genetic framework underlying pulmonary arterial hypertension L Southgate, RD Machado, S Gräf, NW Morrell Nature Reviews Cardiology 17 (2), 85-95, 2020 | 213 | 2020 |
| 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 | 211 | 2006 |
| 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 | 161 | 2020 |
| 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 | 142 | 2019 |
| 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 | 128 | 2011 |
| 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 | 124 | 2017 |
| 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 | 102 | 2015 |
| 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 | 97 | 2006 |
| 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 | 95 | 2020 |
| 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 | 94 | 2015 |
| 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 | 84 | 2002 |
