Matthijs, Gert

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

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

Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 421

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

Devriendt, K., Vanhole, C., Matthijs, G., & de Zegher, F. (1998) · New England Journal of Medicine

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 263

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

for the EuroGentest Validation Group, Mattocks, C. J., Morris, M. A., Matthijs, G., Swinnen, E., Corveleyn, A., Dequeker, E., Müller, C. R., Pratt, V., & Wallace, A. (2010) · European Journal of Human Genetics

Clinical Laboratory Practices and Quality ControlGenomics and Rare Diseases

Cited by 205

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1(KAL2): MUTATIONS IN BRIEF

Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation

Hypothalamic control of reproductive hormonesPituitary Gland Disorders and Treatments

Cited by 146

N-glycosylation as a eukaryotic protective mechanism against protein aggregation

Duran-Romaña, R., Houben, B., De Vleeschouwer, M., Louros, N., Wilson, M. P., Matthijs, G., Schymkowitz, J., & Rousseau, F. (2024) · Science Advances

Glycosylation and Glycoproteins ResearchHeat shock proteins research

Cited by 52

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Wilson, M. P., Kentache, T., Althoff, C. R., Schulz, C., de Bettignies, G., Mateu Cabrera, G., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., et al. (2024) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 30

The European opposition against the BRCA gene patents

Matthijs, G. (2006) · Familial Cancer

Intellectual Property LawIntellectual Property and Patents

Cited by 30

Patenting genes

Matthijs, G. (2004) · BMJ

Intellectual Property and PatentsPharmaceutical Economics and Policy

Cited by 17