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

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

(2014) R. Bottega et al.   BLOOD

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

(2014) Christophe Goubau et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

(2013) Patrizia Noris et al.   BRITISH JOURNAL OF HAEMATOLOGY

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

(2013) Paul Guéguen et al.   PLoS One

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

(2012) B. B. Dawood et al.   BLOOD

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

(2012) Pablo Cingolani et al.   FLY

Inherited platelet disorders

(2012) A. T. NURDEN et al.   HAEMOPHILIA

Ontological phenotype standards for neurogenetics

(2012) Sebastian Köhler et al.   HUMAN MUTATION

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Coagulation and cancer: biological and clinical aspects

(2012) A. FALANGA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Guidelines for the laboratory investigation of heritable disorders of platelet function

(2011) Paul Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2011) Cornelis A Albers et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments

(2009) C. P. M. HAYWARD 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