Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …

DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular
identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes …

DNA double-strand breaks (DSBs) are deleterious DNA lesions that if left unrepaired or are
misrepaired, potentially result in chromosomal aberrations, known drivers of carcinogenesis …

Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

DNA damage, especially DNA double strand breaks (DSBs) and replication stress, activates
a complex post-translational network termed DNA damage response (DDR). Our review …

The underlying etiologies of genetic congenital microcephaly are complex and multifactorial.
Recently, with the exponential growth in the identification and characterization of novel …

DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often
associated with other systemic features. DNA ligase IV is part of the non-homologous end …

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset
growth deficiency, short stature, an erythematous photosensitive malar rash, and increased …