| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 35764313 | Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency. | Thromb Haemost | 2022 |
| 35960817 | Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. | Sci Immunol | 2022 |
| 32573726 | Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. | Blood | 2020 |
| 32353633 | ADA2 deficiency complicated by EBV-driven lymphoproliferative disease. | Clin Immunol | 2020 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 32473076 | Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry. | Transfusion | 2020 |
| 32693407 | Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. | Blood | 2020 |
| 32686758 | Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes. | Eur J Hum Genet | 2020 |
| 31064749 | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Blood | 2019 |
| 31235509 | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. | J Exp Med | 2019 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 29477724 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | J Allergy Clin Immunol | 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 |
| 28041643 | Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Am J Hum Genet | 2017 |
| 28064200 | Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. | Blood | 2017 |
| 26936507 | A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. | Sci Transl Med | 2016 |
| 26912466 | A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. | Blood | 2016 |
| 27084890 | A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. | Blood | 2016 |
| 24433337 | Variation in thromboxane B2 concentrations in serum and plasma in patients taking regular aspirin before and after clopidogrel therapy. | Platelets | 2015 |
| 25732814 | Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis. | Cell Rep | 2015 |
| 25949529 | Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. | Genome Med | 2015 |
| 24879339 | Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis. | PLoS One | 2014 |
| 24219970 | Common genetic variants do not associate with CAD in familial hypercholesterolemia. | Eur J Hum Genet | 2014 |
| 23570689 | Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. | Genome Res | 2013 |
| 23563607 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. | Nat Genet | 2013 |
| 23563608 | SMIM1 underlies the Vel blood group and influences red blood cell traits. | Nat Genet | 2013 |
| 23222517 | Seventy-five genetic loci influencing the human red blood cell. | Nature | 2012 |
| 22366785 | Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. | Nat Genet | 2012 |
| 22982992 | FTO genotype is associated with phenotypic variability of body mass index. | Nature | 2012 |
| 23300628 | Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression. | PLoS One | 2012 |
| 22139419 | New gene functions in megakaryopoiesis and platelet formation. | Nature | 2011 |
| 21765411 | Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. | Nat Genet | 2011 |
| 22100073 | Blood pressure loci identified with a gene-centric array. | Am J Hum Genet | 2011 |
| 21738480 | Multiple loci are associated with white blood cell phenotypes. | PLoS Genet | 2011 |
| 20360734 | Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. | Nature | 2010 |
| 20833976 | Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function. | Blood | 2010 |
| 20935630 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. | Nat Genet | 2010 |
| 20570915 | Genetic determinants of major blood lipids in Pakistanis compared with Europeans. | Circ Cardiovasc Genet | 2010 |
| 19915572 | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | Nat Genet | 2009 |
| 19221038 | A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. | Blood | 2009 |
| 19079261 | Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. | Nat Genet | 2009 |
| 19429868 | A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. | Blood | 2009 |
| 19343178 | Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. | PLoS Genet | 2009 |
| 19110211 | A genome-wide association study identifies three loci associated with mean platelet volume. | Am J Hum Genet | 2009 |
| 19459133 | Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation. | Platelets | 2009 |
| 19820697 | A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. | Nat Genet | 2009 |
| 18065693 | A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. | Blood | 2008 |
| 18194381 | Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality. | Transfusion | 2008 |