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| 37563721 | Evaluation of interventions to prevent vasovagal reactions among whole blood donors: rationale and design of a large cluster randomised trial. | Trials | 2023 |
| 37563721 | Evaluation of interventions to prevent vasovagal reactions among whole blood donors: rationale and design of a large cluster randomised trial. | Trials | 2023 |
| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 34581777 | G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1. | Blood Adv | 2022 |
| 36058413 | A prospective study of risk factors associated with seroprevalence of SARS-CoV-2 antibodies in healthcare workers at a large UK teaching hospital. | J Infect | 2022 |
| 34581777 | G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1. | Blood Adv | 2022 |
| 35211795 | Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. | Pediatr Nephrol | 2022 |
| 35224470 | Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19. | iScience | 2022 |
| 36058413 | A prospective study of risk factors associated with seroprevalence of SARS-CoV-2 antibodies in healthcare workers at a large UK teaching hospital. | J Infect | 2022 |
| 35224470 | Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19. | iScience | 2022 |
| 35211795 | Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. | Pediatr Nephrol | 2022 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 33491795 | Genetic determinants of ferritin, haemoglobin levels and haemoglobin trajectories: results from Donor InSight. | Vox Sang | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 33491795 | Genetic determinants of ferritin, haemoglobin levels and haemoglobin trajectories: results from Donor InSight. | Vox Sang | 2021 |
| 30617275 | Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. | Mol Psychiatry | 2020 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 32750130 | Development and validation of a universal blood donor genotyping platform: a multinational prospective study. | Blood Adv | 2020 |
| 30617275 | Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. | Mol Psychiatry | 2020 |
| 32750130 | Development and validation of a universal blood donor genotyping platform: a multinational prospective study. | Blood Adv | 2020 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 31160809 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2019 |
| 31123110 | Germline selection shapes human mitochondrial DNA diversity. | Science | 2019 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 31160809 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2019 |
| 31240161 | A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. | JIMD Rep | 2019 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 31240161 | A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. | JIMD Rep | 2019 |
| 31123110 | Germline selection shapes human mitochondrial DNA diversity. | Science | 2019 |
| 29273807 | Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29909963 | Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Am J Hum Genet | 2018 |
| 30420737 | Correction: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. | Mol Psychiatry | 2018 |
| 30526634 | Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. | Genome Med | 2018 |
| 29391254 | Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. | J Allergy Clin Immunol | 2018 |
| 29477728 | Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. | J Allergy Clin Immunol | 2018 |
| 29549330 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29549329 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29155802 | Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. | Mol Psychiatry | 2018 |
| 29360107 | Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2018 |
| 29273807 | Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29909963 | Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Am J Hum Genet | 2018 |
| 30526634 | Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. | Genome Med | 2018 |
| 30420737 | Correction: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. | Mol Psychiatry | 2018 |
| 29391254 | Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. | J Allergy Clin Immunol | 2018 |
| 29360107 | Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2018 |
| 29549330 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29549329 | Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | Nat Genet | 2018 |
| 29477728 | Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. | J Allergy Clin Immunol | 2018 |
| 29155802 | Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. | Mol Psychiatry | 2018 |