Gert Matthijs

Research interests

Publications

• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

  The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.04.003

• Congenital disorders of glycosylation (CDG): Quo vadis?

  European Journal of Medical Genetics · 2017 · https://doi.org/10.1016/j.ejmg.2017.10.012

• Erratum: Guidelines for diagnostic next-generation sequencing

  European Journal of Human Genetics · 2016 · 10.1038/ejhg.2016.63

• Global implementation of genomic medicine: We are not alone

  Science Translational Medicine · 2015 · 10.1126/scitranslmed.aab0194

• Guidelines for diagnostic next-generation sequencing

  European Journal of Human Genetics · 2015 · 10.1038/ejhg.2015.226

• Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

  New England Journal of Medicine · 2014 · https://doi.org/10.1056/nejmoa1206605

• TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

  The American Journal of Human Genetics · 2012 · 10.1016/j.ajhg.2012.05.002

• Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

  Heart · 2010 · 10.1136/hrt.2009.189621

• A standardized framework for the validation and verification of clinical molecular genetic tests

  European Journal of Human Genetics · 2010 · 10.1038/ejhg.2010.101

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

  Nature Genetics · 2007 · 10.1038/ng.2007.45

• Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

  Annual Review of Genomics and Human Genetics · 2007 · https://doi.org/10.1146/annurev.genom.8.080706.092327

• Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

  Proceedings of the National Academy of Sciences · 2006 · 10.1073/pnas.0507685103

• Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

  The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/375614

• Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

  The American Journal of Human Genetics · 2003 · 10.1086/367713

• Congenital Disorders of Glycosylation: A Review

  Pediatric Research · 2002 · 10.1203/00006450-200211000-00003

• Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation

  Blood · 2001 · 10.1182/blood.v98.1.85

• Congenital Disorders of Glycosylation

  Annual Review of Genomics and Human Genetics · 2001 · 10.1146/annurev.genom.2.1.129

• A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

  Journal of Medical Genetics · 2001 · 10.1136/jmg.38.1.14

• Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions

  International Journal of Andrology · 1999 · 10.1046/j.1365-2605.1999.00193.x

• Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

  New England Journal of Medicine · 1998 · 10.1056/nejm199804303381817

• Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

  The American Journal of Human Genetics · 1998 · 10.1086/301935

• SOX10 mutations in patients with Waardenburg-Hirschsprung disease

  Nature Genetics · 1998 · 10.1038/ng0298-171

• Carbohydrate deficient glycoprotein (CDG) syndrome type I.

  Journal of Medical Genetics · 1997 · 10.1136/jmg.34.1.73

• Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

  Nature Genetics · 1997 · https://doi.org/10.1038/ng0597-88

• Erythromycin is a motilin receptor agonist

  American Journal of Physiology-Gastrointestinal and Liver Physiology · 1989 · 10.1152/ajpgi.1989.257.3.g470

Current projects

No projects listed.