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 …

De novo mutations are recognized both as an important source of genetic variation and as a
prominent cause of sporadic disease in humans. Mutations identified as de novo are …

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 …

Genome-wide analysis methods, such as array comparative genomic hybridization (CGH)
and whole-genome sequencing (WGS), have greatly advanced the identification of structural …

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a
recognizable pattern of severe malformations leading to prenatal or early postnatal lethality …

Balanced chromosomal rearrangements such as inversions and translocations can cause
congenital disease or cancer by inappropriately rewiring promoter–enhancer contacts,. To …

Background Resistance to thyroid hormone is characterised by a lack of response of
peripheral tissues to the active form of thyroid hormone (triiodothyronine, T3). In about 85 …

Introduction A minority of patients with sporadic early‐onset Alzheimer's disease (AD) exhibit
de novo germ line mutations in the autosomal dominant genes such as APPPSEN1, or …

Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive
molecular groups of ependymoma are the supratentorial ZFTA-fusion associated and the …

De novo, germline variants in DNMT3A cause Tatton–Brown–Rahman syndrome (TBRS).
This condition is characterized by overgrowth, distinctive facial appearance, and intellectual …