Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

…, R Pfundt, HG Yntema, EJ Kamsteeg… - Nature …, 2016 - nature.com
To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

WG Leen, RA Wevers, EJ Kamsteeg, H Scheffer… - JAMA …, 2013 - jamanetwork.com
Importance GLUT1 deficiency syndrome is a treatable neurometabolic disorder, characterized
by a low concentration of glucose in cerebrospinal fluid (CSF) and a decreased CSF to …

[HTML][HTML] GLUT1 deficiency syndrome into adulthood: a follow-up study

WG Leen, M Taher, MM Verbeek, EJ Kamsteeg… - Journal of …, 2014 - Springer
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which
glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual …

[PDF][PDF] High rate of recurrent de novo mutations in developmental and epileptic encephalopathies

…, E Fassi, N Corsten-Janssen, EJ Kamsteeg… - The American Journal of …, 2017 - cell.com
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

…, J Osinga, G Tan-Sindhunata, Y Wu, EJ Kamsteeg… - Nature …, 1996 - nature.com
… Stolte-Dijkstra and E. Wesby-van Swaay for collecting patients material; E. Schoenmakers,
Centre for Human Genetics, Leuven, for YACs used to determine the EDNs and EDNRB …

A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

…, C Gilissen, LH Hoefsloot, EJ Kamsteeg… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes. So …

[HTML][HTML] A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

…, KJ Van Nimwegen, JH Schieving, EJ Kamsteeg… - Genetics in …, 2017 - nature.com
Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological
advances because they promise shorter turnaround times and/or higher diagnostic yields. …

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

…, NC Voermans, S Lillis, K Stewart, EJ Kamsteeg… - Neuromuscular …, 2013 - Elsevier
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of
neuromuscular disease, ranging from various congenital myopathies to the malignant …

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt… - Nature …, 2012 - nature.com
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder
characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) …

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

MA Willemsen, MM Verbeek, EJ Kamsteeg… - Brain, 2010 - academic.oup.com
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral
catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than …