Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

(2018) Rajiv K. Khajuria et al.   CELL

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis

(2018) Jakub Zmajkovic et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis

(2017) Laure Gilles et al.   JOURNAL OF CLINICAL INVESTIGATION

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

(2016) Linda M. Polfus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex heatmaps reveal patterns and correlations in multidimensional genomic data

(2016) Zuguang Gu et al.   BIOINFORMATICS

Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation

(2016) Esther A. Obeng et al.   CANCER CELL

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

(2016) Jacob C. Ulirsch et al.   CELL

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

(2016) Felix C. Giani et al.   Cell Stem Cell

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Data-driven hypothesis weighting increases detection power in genome-scale multiple testing

(2016) Nikolaos Ignatiadis et al.   NATURE METHODS

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Insight into GATA1 transcriptional activity through interrogation ofciselements disrupted in human erythroid disorders

(2016) Aoi Wakabayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences

(2015) Alexander B. Rosenberg et al.   CELL

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

(2015) Anindita Basak et al.   JOURNAL OF CLINICAL INVESTIGATION

Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3’ Splice Site Selection in SF3B1-mutated Cancers

(2015) Christopher DeBoever et al.   PLoS Computational Biology

Global transcriptome analyses of human and murine terminal erythroid differentiation

(2014) X. An et al.   BLOOD

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Altered translation of GATA1 in Diamond-Blackfan anemia

(2014) Leif S Ludwig et al.   NATURE MEDICINE

Full-length RNA-seq from single cells using Smart-seq2

(2014) Simone Picelli et al.   Nature Protocols

Isolation and functional characterization of human erythroblasts at distinct stages: implications for understanding of normal and disordered erythropoiesis in vivo

(2013) J. Hu et al.   BLOOD

Analysis of disease-causing GATA1 mutations in murine gene complementation systems

(2013) A. E. Campbell et al.   BLOOD

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Defective nuclear localization of Hsp70 is associated with dyserythropoiesis and GATA-1 cleavage in myelodysplastic syndromes

(2011) E. Frisan et al.   BLOOD

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Rapid generation of splicing reporters with pSpliceExpress

(2008) Shivendra Kishore et al.   GENE