Scientific Publications
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A Novel PORCN Mutation in a Severe Case of Focal Dermal Hypoplasia
Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital […]
A Recessive Form of Extreme Macrocephaly
PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN […]
Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing
During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed […]
Proof-of-Principle Rapid Noninvasive Prenatal Diagnosis of Autosomal Recessive Founder Mutations
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive […]
Molecular, Biochemical, and Structural Analysis of a Novel Mutation in Patients with Methylmalonyl-CoA Mutase Deficiency
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT […]
Recurrent Null Mutation in SPG20
Troyer syndrome is an autosomal recessive form of complex hereditary spastic paraplegia. To date, the disorder has only been described in the Amish and in kindred from Oman. In Amish, all affected […]
TALPID3 Controls Centrosome
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By […]
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6- sulfate sulfatase (GALNS), […]
A Novel, Highly Sensitive and Specific Biomarker for Niemann-Pick Type C1 Disease
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.