List of works - Ernest Turro

A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases

scientific article

A coagulation defect arising from heterozygous premature termination of tissue factor

scientific article published on 14 July 2020

A comparative study of RNA-seq analysis strategies

scientific article published on 18 March 2015

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

scientific article

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

scientific article published on 15 April 2016

A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia

scientific article

A mutation of the human EPHB2 gene leads to a major platelet functional defect

article

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

scientific article published on 07 July 2020

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

scientific article published on 25 March 2019

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

scientific article published on 29 January 2018

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

scientific article published on 19 July 2016

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 22 July 2020

BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips.

scientific article

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

scientific article published on 13 June 2018

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture

scientific article

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

scientific article published on 21 June 2017

Extensive co-operation between the Epstein-Barr virus EBNA3 proteins in the manipulation of host gene expression and epigenetic chromatin modification

scientific article

Extensive compensatory cis-trans regulation in the evolution of mouse gene expression

scientific article

Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells

scientific article

Flexible analysis of RNA-seq data using mixed effects models.

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

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

scientific article

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

scientific article

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

scientific article published on 9 April 2015

Hybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retina

scientific article

Induction of p16(INK4a) is the major barrier to proliferation when Epstein-Barr virus (EBV) transforms primary B cells into lymphoblastoid cell lines

scientific article

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

scientific article published on 20 December 2018

Inherited platelet disorders: toward DNA-based diagnosis

scientific article

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

scientific article published on 24 June 2019

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

scientific article published on 22 February 2018

MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays

scientific article

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

scientific article

NRG1 fusions in breast cancer

scientific article published on 07 January 2021

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

PIGO deficiency: palmoplantar keratoderma and novel mutations

scientific article published on 25 May 2017

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

scientific article published on 24 February 2016

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

scientific article

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 17 July 2020

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

scientific article published on 22 November 2018

Statistical Analysis of Mapped Reads from mRNA-Seq Data

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The South Asian genome.

scientific article

The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape

scientific article

Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision

scientific article published on 29 November 2018

Transcriptional diversity during lineage commitment of human blood progenitors

scientific article

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 06 May 2020

ontologyX: a suite of R packages for working with ontological data

scientific article

variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

scholarly article by Shoshana Revel-Vilk et al published 25 October 2018 in Blood

List of works by Ernest Turro

A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases

A coagulation defect arising from heterozygous premature termination of tissue factor

A comparative study of RNA-seq analysis strategies

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

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia

A mutation of the human EPHB2 gene leads to a major platelet functional defect

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips.

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Extensive co-operation between the Epstein-Barr virus EBNA3 proteins in the manipulation of host gene expression and epigenetic chromatin modification

Extensive compensatory cis-trans regulation in the evolution of mouse gene expression

Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells

Flexible analysis of RNA-seq data using mixed effects models.

Germline selection shapes human mitochondrial DNA diversity

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

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

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

Hybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retina

Induction of p16(INK4a) is the major barrier to proliferation when Epstein-Barr virus (EBV) transforms primary B cells into lymphoblastoid cell lines

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Inherited platelet disorders: toward DNA-based diagnosis

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

NRG1 fusions in breast cancer

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

PIGO deficiency: palmoplantar keratoderma and novel mutations

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Statistical Analysis of Mapped Reads from mRNA-Seq Data

The Human Phenotype Ontology in 2017

The South Asian genome.

The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape

Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision

Transcriptional diversity during lineage commitment of human blood progenitors

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

ontologyX: a suite of R packages for working with ontological data

variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting