Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Acute myeloid leukemia-associatedDNMT3Ap.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation

(2016) Rika Kosaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic Perturbations by Arg882-Mutated DNMT3A Potentiate Aberrant Stem Cell Gene-Expression Program and Acute Leukemia Development

(2016) Rui Lu et al.   CANCER CELL

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

(2015) Bianca Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

(2015) Silvana Beatriz Dangiolo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders

(2015) H. Hilger Ropers et al.   European Journal of Medical Genetics

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

Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex

(2015) Anand Balasubramani et al.   Nature Communications

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

(2013) Omar Abdel-Wahab et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations

(2012) Pamela Magini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value

(2011) M. Pratcorona et al.   HAEMATOLOGICA

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE