Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

(2014) M. Y. Zhang et al.   HAEMATOLOGICA

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

(2013) Jeana T DaRe et al.   BMC Medical Genetics

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

(2013) Zhong Deng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diagnosis and Management of Inherited Thrombocytopenias

(2013) Alessandro Pecci et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Key Principles and Clinical Applications of "Next-Generation" DNA Sequencing

(2012) J. M. Rizzo et al.   Cancer Prevention Research

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

ANKRD26 and Its Interacting Partners TRIO, GPS2, HMMR and DIPA Regulate Adipogenesis in 3T3-L1 Cells

(2012) Xiu-Fen Liu et al.   PLoS One

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

(2011) A. P. Hsu et al.   BLOOD

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

(2011) Benjamin Meder et al.   Circulation-Cardiovascular Genetics

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations

(2011) E. Tsangaris et al.   JOURNAL OF MEDICAL GENETICS

Telomere dysfunction and chromosome instability

(2011) John P. Murnane   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

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

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders

(2010) U. Amstutz et al.   CLINICAL CHEMISTRY

In vivo inactivation of MASTL kinase results in thrombocytopenia

(2009) H. Jan Johnson et al.   EXPERIMENTAL HEMATOLOGY

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

Inherited aplastic anaemias/bone marrow failure syndromes

(2008) Inderjeet Dokal et al.   BLOOD REVIEWS

TINF2mutations in children with severe aplastic anemia

(2008) Hong-Yan Du et al.   PEDIATRIC BLOOD & CANCER

NOLA1gene mutations in acquired aplastic anemia

(2008) Simona Pigullo et al.   PEDIATRIC BLOOD & CANCER

Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes

(2008) J. T. Teo et al.   PEDIATRICS