• Publications
  • Influence
Identification of a variant associated with adult-type hypolactasia
Adult-type hypolactasia, also known as lactase non-persistence (lactose intolerance), is a common autosomal recessive condition resulting from the physiological decline in activity of theExpand
  • 664
  • 78
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified inExpand
  • 318
  • 18
  • PDF
A genetic test which can be used to diagnose adult-type hypolactasia in children
Background/Aims: Adult-type hypolactasia (primary lactose malabsorption) affects most of world’s human population and limits the use of fresh milk due to lactose intolerance. The diagnosis ofExpand
  • 176
  • 15
  • PDF
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.
To identify genetic loci for autism-spectrum disorders, we have performed a two-stage genomewide scan in 38 Finnish families. The detailed clinical examination of all family members revealedExpand
  • 236
  • 15
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
A single-nucleotide variant, C/T(-13910), located 14 kb upstream of the lactase gene (LCT), has been shown to be completely correlated with lactase persistence (LP) in northern Europeans. Here, weExpand
  • 149
  • 12
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.
PURPOSE One third of families with classical adenomatous polyposis (FAP), and a majority of those with attenuated FAP (AFAP), remain APC mutation-negative by conventional methods. Our purpose was toExpand
  • 83
  • 12
Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein1
Complement factor H (FH) is an important regulator of the alternative complement pathway. The Y402H polymorphism within the seventh short consensus repeat of FH was recently shown to be associatedExpand
  • 234
  • 10
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and theExpand
  • 178
  • 10
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localizedExpand
  • 187
  • 9
  • PDF
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
Background: The prevalence of lactase persistence is high in Saudi Arabia. Objective: To identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia.Expand
  • 97
  • 9