Trembath, Richard C.

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Collaborative Association Study of Psoriasis (CASP), Tsoi, L. C., Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., et al. (2012) · Nature Genetics

Psoriasis: Treatment and PathogenesisGenetic Associations and Epidemiology

Cited by 1,024

The power of genetic diversity in genome-wide association studies of lipids

Graham, S. E., Clarke, S. L., Wu, K.-H. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., et al. (2021) · Nature

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 972

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

The International IBD Genetics Consortium (IIBDGC), Ellinghaus, D., International Genetics of Ankylosing Spondylitis Consortium (IGAS), International PSC Study Group (IPSCSG), Genetic Analysis of Psoriasis Consortium (GAPC), Psoriasis Association Genetics Extension (PAGE), Jostins, L., Spain, S. L., Cortes, A., Bethune, J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyInflammatory Bowel Disease

Cited by 751

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

Chen, M.-H., Raffield, L. M., Mousas, A., Sakaue, S., Huffman, J. E., Moscati, A., Trivedi, B., Jiang, T., Akbari, P., Vuckovic, D., et al. (2020) · Cell

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 661

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., Hodgson, J., Liu, B., Salmon, R. M., Southwood, M., et al. (2018) · Nature Communications

Pulmonary Hypertension Research and TreatmentsVascular Anomalies and Treatments

Cited by 380

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

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 286

Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data

Tylee, D. S., Sun, J., Hess, J. L., Tahir, M. A., Sharma, E., Malik, R., Worrall, B. B., Levine, A. J., Martinson, J. J., Nejentsev, S., et al. (2018) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetic Associations and EpidemiologyMultiple Sclerosis Research Studies

Cited by 219

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

Tsoi, L. C., Spain, S. L., Ellinghaus, E., Stuart, P. E., Capon, F., Knight, J., Tejasvi, T., Kang, H. M., Allen, M. H., Lambert, S., et al. (2015) · Nature Communications

Psoriasis: Treatment and PathogenesisGenetic Associations and Epidemiology

Cited by 195

Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms

Baurecht, H., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., et al. (2015) · The American Journal of Human Genetics

Dermatology and Skin DiseasesPsoriasis: Treatment and Pathogenesis

Cited by 193

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease: Table 1

Wolf, N., Quaranta, M., Prescott, N. J., Allen, M., Smith, R., Burden, A. D., Worthington, J., Griffiths, C. E. M., Mathew, C. G., Barker, J. N., et al. (2008) · Journal of Medical Genetics

Psoriasis: Treatment and PathogenesisGenetic Associations and Epidemiology

Cited by 171

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) · The American Journal of Human Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

Cited by 152

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

Aligianis, I. A., Forshew, T., Johnson, S., Michaelides, M., Johnson, C. A., Trembath, R. C., Hunt, D. M., Moore, A. T., & Maher, E. R. (2002) · Journal of Medical Genetics

Retinal Development and DisordersPhotoreceptor and optogenetics research

Cited by 130

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

Huang, Q. Q., Sallah, N., Dunca, D., Trivedi, B., Hunt, K. A., Hodgson, S., Lambert, S. A., Arciero, E., Wright, J., Griffiths, C., et al. (2022) · Nature Communications

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 66

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., et al. (2015) · Human Mutation

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 50

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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