A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

Erythrocyte pyruvate kinase deficiency: 2015 status report

(2015) Rachael F. Grace et al.   AMERICAN JOURNAL OF HEMATOLOGY

Dehydrated hereditary stomatocytosis masquerading as MDS

(2015) M. Paessler et al.   BLOOD

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome

(2015) G. W. Magor et al.   BLOOD

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

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

(2015) Ibrahim Ghemlas et al.   JOURNAL OF MEDICAL GENETICS

Rapid whole genome sequencing and precision neonatology

(2015) Joshua E. Petrikin et al.   SEMINARS IN PERINATOLOGY

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

(2014) Rob van Zwieten et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

(2014) V. Viprakasit et al.   BLOOD

Erythro-megakaryocytic transcription factors associated with hereditary anemia

(2014) J. D. Crispino et al.   BLOOD

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

(2014) L. C. Collopy et al.   HAEMATOLOGICA

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

(2014) D. De Rocco et al.   HAEMATOLOGICA

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

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

Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis

(2014) P. Koralkova et al.   International Journal of Laboratory Hematology

Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants

(2014) R D Christensen et al.   Journal of Perinatology

Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

(2014) Marwa Abu El Haija et al.   PEDIATRIC BLOOD & CANCER

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

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

(2011) A. E. Gallienne et al.   HAEMATOLOGICA