Cytogenetic and morphologic analysis of 23 hydatidiform moles allowed the division into at
least two syndromes: (1) the syndrome of complete (classical) mole is without an …

Hydatidiform moles studied with respect to cytogenetics and morphologic constitution were
divisible into two syndromes: (1) complete, classical mole giving a 46 XX karyotype and (2) …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Genetic studies aimed at understanding the molecular basis of complex human phenotypes
require the genotyping of many thousands of single-nucleotide polymorphisms (SNPs) …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …

Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for
which recent evidence indicates an important etiologic role for rare copy number variants (…

The origin of human triploidy is controversial. Early cytogenetic studies found the majority of
cases to be paternal in origin; however, recent molecular analyses have challenged these …