Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

(2020) Taila Hartley et al.   Annual Review of Genomics and Human Genetics

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

(2020) James E. D. Thaventhiran et al.   NATURE

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

(2020) Chengning Tan et al.   Frontiers in Genetics

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Causal Genetic Variants in Stillbirth

(2020) Kate E. Stanley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Unraveling Hematopoiesis through the Lens of Genomics

(2020) L. Alexander Liggett et al.   CELL

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

(2020) Erik L. Bao et al.   NATURE

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

(2019) Nour J. Abdulhay et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

(2019) Evan E. Eichler   NEW ENGLAND JOURNAL OF MEDICINE

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

(2019) Leif S. Ludwig et al.   Cell Reports

Structural variation in the 3D genome

(2018) Malte Spielmann et al.   NATURE REVIEWS GENETICS

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

(2018) Fritz J. Sedlazeck et al.   NATURE REVIEWS GENETICS

The Genetic Landscape of Diamond-Blackfan Anemia

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

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

(2017) Caterina Marconi et al.   Journal of Hematology & Oncology

The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

(2016) Hendrik G. Stunnenberg et al.   CELL

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

(2015) Harrison Brand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

(2014) Dominique Bluteau et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2014) Simone Picelli et al.   Nature Protocols

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-cell phospho-specific flow cytometric analysis demonstrates biochemical and functional heterogeneity in human hematopoietic stem and progenitor compartments

(2011) K. D. Gibbs et al.   BLOOD

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris et al.   BLOOD