Author details

Full Name

Richard C Trembath

Affiliation

ORCID

Career Start Year

1986

Papers

285

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37486023	Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.	Ann Neurol	2023
36302552	Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.	Eur Respir J	2023
37923650	[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].	Rev Mal Respir	2023
36712057	Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension.	bioRxiv	2023
34588193	Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.	Eur Respir J	2022
35587468	Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.	PLoS Med	2022
35945198	Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.	Nat Commun	2022
34732894	MC3R links nutritional state to childhood growth and the timing of puberty.	Nature	2021
33536628	Author Correction: Evaluating drug targets through human loss-of-function genetic variation.	Nature	2021
34158098	Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.	Genome Med	2021
34184781	Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.	Ann Neurol	2021
31504546	Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people.	Int J Epidemiol	2020
32203228	Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.	Genet Med	2020
31744833	Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.	Eur Respir J	2020
31661308	Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.	Am J Respir Crit Care Med	2020
32207686	Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.	Elife	2020
33187088	Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.	Genes	2020
32888493	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.	Cell	2020
31211845	Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.	Hum Mol Genet	2019
30545973	Genetics and genomics of pulmonary arterial hypertension.	Eur Respir J	2019
30527956	Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.	Lancet Respir Med	2019
30655285	The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.	Eur Respir J	2019
29650961	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.	Nat Commun	2018
30354297	Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.	Circ Genom Precis Med	2018
29924900	Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.	Hum Mutat	2018
30542056	Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.	Nat Commun	2018
30325587	Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.	Am J Med Genet B Neuropsychiatr Genet	2018
30037793	The Psoriasis Risk Allele <i>HLA-C*06:02</i> Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis.	Infect Immun	2018
29392897	Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study.	Am J Transplant	2018
28827725	Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.	Nat Commun	2017
28595995	miR-146b Probably Assists miRNA-146a inÂ the Suppression of Keratinocyte Proliferation and Inflammatory ResponsesÂ in Psoriasis.	J Invest Dermatol	2017
28537254	Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants.	Nat Commun	2017
28973304	Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.	Hum Mol Genet	2017
28972005	Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.	Circulation	2017
29021166	An analysis of IL-36 signature genes and individuals with knockout mutations validates IL-36 as a psoriasis therapeutic target.	Science Translational Medicine	2017
27492651	Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.	Hum Mutat	2016
27388993	AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.		2016
26974007	Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.	Nat Genet	2016
27236921	Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.	Am J Hum Genet	2016
26945007	Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.	Hum Mol Genet	2016
26940866	Health and population effects of rare gene knockouts in adult humans with related parents.	Science	2016
27467207	Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro.	Br J Dermatol	2016
26457590	DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.	Hum Mutat	2015
25458002	IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.	Journal of Allergy and Clinical Immunology	2015
25873077	Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.	Cancer Discov	2015
25824905	DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.	Hum Mutat	2015
25574825	Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.	Am J Hum Genet	2015
25963545	Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.	Circ Cardiovasc Genet	2015
25939698	Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.	Nat Commun	2015
26387786	Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.	Hum Mutat	2015