Lawrie, Allan

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

Immunogenicity of standard and extended dosing intervals of BNT162b2 mRNA vaccine

Payne, R. P., Longet, S., Austin, J. A., Skelly, D. T., Dejnirattisai, W., Adele, S., Meardon, N., Faustini, S., Al-Taei, S., Moore, S. C., et al. (2021) · Cell

SARS-CoV-2 and COVID-19 ResearchImmune responses and vaccinations

Cited by 322

Identification of LTBP-2 as a plasma biomarker for right ventricular dysfunction in human pulmonary arterial hypertension

Boucherat, O., Yokokawa, T., Krishna, V., Kalyana-Sundaram, S., Martineau, S., Breuils-Bonnet, S., Azhar, N., Bonilla, F., Gutstein, D., Potus, F., et al. (2022) · Nature Cardiovascular Research

Pulmonary Hypertension Research and TreatmentsCardiac Fibrosis and Remodeling

Cited by 64

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

Cited by 41