Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
W Vainchenker, R Kralovics - … Journal of the American Society of …, 2017 - ashpublications.org
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part
elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin …
elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
Clonal hematopoiesis and nonhematologic disorders
S Jaiswal - Blood, The Journal of the American Society of …, 2020 - ashpublications.org
Clonal expansions of mutated hematopoietic cells, termed clonal hematopoiesis, are
common in aging humans. One expected consequence of mutation-associated clonal …
common in aging humans. One expected consequence of mutation-associated clonal …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
Cancer genetics and epigenetics: two sides of the same coin?
JS You, PA Jones - Cancer cell, 2012 - cell.com
Epigenetic and genetic alterations have long been thought of as two separate mechanisms
participating in carcinogenesis. A recent outcome of whole exome sequencing of thousands …
participating in carcinogenesis. A recent outcome of whole exome sequencing of thousands …
De novo mutations in human genetic disease
JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …
the disease burden can only now be determined using family-based whole-genome or …
[HTML][HTML] ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression
Recurrent somatic ASXL1 mutations occur in patients with myelodysplastic syndrome,
myeloproliferative neoplasms, and acute myeloid leukemia, and are associated with …
myeloproliferative neoplasms, and acute myeloid leukemia, and are associated with …
Ultra-sensitive sequencing identifies high prevalence of clonal hematopoiesis-associated mutations throughout adult life
R Acuna-Hidalgo, H Sengul, M Steehouwer… - The American Journal of …, 2017 - cell.com
Clonal hematopoiesis results from somatic mutations in hematopoietic stem cells, which give
an advantage to mutant cells, driving their clonal expansion and potentially leading to …
an advantage to mutant cells, driving their clonal expansion and potentially leading to …
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …