Applications of high-throughput DNA sequencing to benign hematology

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

(2013) P. Stepensky et al.   BLOOD

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

(2013) A. E. Campbell et al.   BLOOD

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia

(2013) Gareth Gerrard et al.   BRITISH JOURNAL OF HAEMATOLOGY

Disorders of red cell volume regulation

(2013) Patrick G. Gallagher   CURRENT OPINION IN HEMATOLOGY

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

(2013) Bari J. Ballew et al.   HUMAN GENETICS

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

(2013) Molly C. Kottemann et al.   NATURE

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy

(2013) D.-A. Khuong-Quang et al.   PEDIATRICS

Patient Autonomy and Incidental Findings in Clinical Genomics

(2013) S. M. Wolf et al.   SCIENCE

Ethics and Genomic Incidental Findings

(2013) A. L. McGuire et al.   SCIENCE

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

(2013) Megan Allyse et al.   TRENDS IN BIOTECHNOLOGY

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

(2012) Michael Kirwan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

(2012) M. Pasquet et al.   BLOOD

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

(2012) Bridget A Fernandez et al.   BMC Medical Genetics

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

(2012) Rui Chen et al.   CELL

A Fast and Noise-Resilient Approach to Detect Rare-Variant Associations With Deep Sequencing Data for Complex Disorders

(2012) Yee Him Cheung et al.   GENETIC EPIDEMIOLOGY

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP

(2012) Beatrice Schuster et al.   HUMAN MUTATION

What’s in a name?

(2012) Mitchell J. Weiss et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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

Molecular pathogenesis and clinical management of Fanconi anemia

(2012) Younghoon Kee et al.   JOURNAL OF CLINICAL INVESTIGATION

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Piezo proteins are pore-forming subunits of mechanically activated channels

(2012) Bertrand Coste et al.   NATURE

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

The expanding scope of DNA sequencing

(2012) Jay Shendure et al.   NATURE BIOTECHNOLOGY

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Next-generation sequencing in the clinic: are we ready?

(2012) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Rare Variants in Ischemic Stroke: An Exome Pilot Study

(2012) John W. Cole et al.   PLoS One

A Genome-Wide Association Study of Total Bilirubin and Cholelithiasis Risk in Sickle Cell Anemia

(2012) Jacqueline N. Milton et al.   PLoS One

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

(2012) Kerstin Knies et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

(2011) Holly K. Tabor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

Quantitative Trait Loci Analysis for Peripheral Blood Parameters in a (BALB/cW × C57BL/6J-Mpl hlb219/J) F2 Mice

(2011) Adriana STRZALKOWSKA et al.   EXPERIMENTAL ANIMALS

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

(2011) A. J. Walne et al.   HAEMATOLOGICA

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients

(2011) Pallav Bhatnagar et al.   JOURNAL OF HUMAN GENETICS

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

(2011) Ruth H. Walker et al.   MOVEMENT DISORDERS

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1

(2010) Daniel A. Dworkis et al.   AMERICAN JOURNAL OF HEMATOLOGY

Thalassemia: An Overview of 50 Years of Clinical Research

(2010) Vijay G. Sankaran et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

(2010) Geneviève Galarneau et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeted Genome-Wide Enrichment of Functional Regions

(2010) Periannan Senapathy et al.   PLoS One

Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume

(2009) Manuel A.R. Ferreira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS