HIRSCHSPRUNG'S disease (HSCR) 1 is a common condition (1 in 5,000 live births)
resulting in intestinal obstruction in neonates 2 and megacolon in infants and adults 3 . This …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals …

Genetic studies in patients with severe early-onset obesity have provided insights into the
molecular and physiological pathways that regulate body weight in humans. We report a 19-…

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS
genes have been cloned, they explain only 40–50% of the total mutational load. Here we …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

We have identified three truncating, two splice-site, and three missense variants at
conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

The etiology of mental retardation remains elusive in the majority of cases. Microdeletions
within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe …

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity.
Next-generation sequencing of large cohorts has identified an increasing number of genes …

… Holder,5 Geert R. Mortier,6 Barbara Delle Chiaie,7 Elfride De Baere,7 Miles D. Thompson,8
Tony Roscioli,9,10 Szymon Kielbasa,11 Taroh Kinoshita,4 Stefan Mundlos,1,2,3 Peter N. …