A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Discovering the first tyrosine kinase

(2015) Tony Hunter   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

(2015) Sarah K Westbury et al.   Genome Medicine

Gray platelet syndrome: proinflammatory megakaryocytes and  -granule loss cause myelofibrosis and confer metastasis resistance in mice

(2014) J. A. Guerrero et al.   BLOOD

Src family kinases: at the forefront of platelet activation

(2014) Y. A. Senis et al.   BLOOD

Update on the causes of platelet disorders and functional consequences

(2014) K. Freson et al.   International Journal of Laboratory Hematology

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Transcriptional diversity during lineage commitment of human blood progenitors

(2014) L. Chen et al.   SCIENCE

SECOND-GENERATION TYROSINE KINASE INHIBITORS (TKI) AS SALVAGE THERAPY FOR RESISTANT OR INTOLERANT PATIENTS TO PRIOR TKIs

(2014) Massimo Breccia et al.   Mediterranean Journal of Hematology and Infectious Diseases

Flexible analysis of RNA-seq data using mixed effects models

(2013) Ernest Turro et al.   BIOINFORMATICS

Megakaryocytes assemble podosomes that degrade matrix and protrude through basement membrane

(2013) H. Schachtner et al.   BLOOD

Podosomes in adhesion, migration, mechanosensing and matrix remodeling

(2013) Hannah Schachtner et al.   Cytoskeleton

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

(2013) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish

(2012) Sophie Louwette et al.   HUMAN MOLECULAR GENETICS

Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function

(2012) S. LOUWETTE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Dasatinib or imatinib in newly diagnosed chronic-phase chronic myeloid leukemia: 2-year follow-up from a randomized phase 3 trial (DASISION)

(2011) H. M. Kantarjian et al.   BLOOD

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

(2011) Michela Di Michele et al.   Journal of Proteomics

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

(2011) Caroline Rooryck et al.   NATURE GENETICS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

The 'ins' and 'outs' of podosomes and invadopodia: characteristics, formation and function

(2011) Danielle A. Murphy et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads

(2011) Ernest Turro et al.   GENOME BIOLOGY

The distribution of podosomes in osteoclasts cultured on bone laminae: Effect of retinol

(2010) Alberta Zambonin-Zallone et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Myristoylation and Membrane Binding Regulate c-Src Stability and Kinase Activity

(2010) P. Patwardhan et al.   MOLECULAR AND CELLULAR BIOLOGY

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection and characterization of 3D-signature phosphorylation site motifs and their contribution towards improved phosphorylation site prediction in proteins

(2009) Pawel Durek et al.   BMC BIOINFORMATICS

Highly Efficient Multicistronic Lentiviral Vectors with Peptide 2A Sequences

(2009) Abdelilah Ibrahimi et al.   HUMAN GENE THERAPY

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

(2009) C. HERMANS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actin cytoskeletal organisation in osteoclasts: A model to decipher transmigration and matrix degradation

(2008) F SALTEL et al.   EUROPEAN JOURNAL OF CELL BIOLOGY