Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly,
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …

The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes
(PWS and AS) represents a paradigm for understanding the relationships between genome …

Segmental duplications play fundamental roles in both genomic disease and gene
evolution. To understand their organization within the human genome, we have developed …

Lateral inhibition, mediated by Notch signaling, leads to the selection of cells that are
permitted to become neurons within domains defined by proneural gene expression …

The selectivity of the ubiquitin–26 S proteasome system (UPS) for a particular substrate
protein relies on the interaction between a ubiquitin-conjugating enzyme (E2, of which a cell …

Regulatory ubiquitylation is emerging as an important mechanism to protect genome
integrity in cells exposed to DNA damage,,,,,,,,. However, the spectrum of known ubiquitin …

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of
expression of paternally inherited genes known to be imprinted and located in the …

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome
characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal …

Human genetic variation is an important determinant of the outcome of infection with
Mycobacterium tuberculosis. We have conducted a two-stage genome-wide linkage study to …

Human iris color was one of the first traits for which Mendelian segregation was established.
To date, the genetics of iris color is still not fully understood and is of interest, particularly in …