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List of works by Gert Matthijs

A case with rare type of congenital disorder of glycosylation: PGM1-CDG.

scientific article published in January 2015

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

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

scientific article (publication date: December 2010)

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

scientific article

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

scientific article published on 10 June 2016

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).

scientific article

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG ⬇️

scientific article published on September 15, 2012

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

scientific article

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 01 November 2019

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia ⬇️

scientific article published on 01 December 2002

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

scientific article published on 4 January 2018

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

scientific article published on 16 February 2007

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

scientific article

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation

scientific article published on 23 June 2019

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

scientific article

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation

scientific article

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation

scientific article published on 5 August 2015

Clinical utility gene card for: Peters plus syndrome.

scientific article published on 6 April 2016

Clinical utility gene card for: Phosphomannomutase 2 deficiency

scientific article published on 15 January 2014

Clinical utility gene card for: Phosphomannose isomerase deficiency

scientific article

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene ⬇️

scientific article published on February 1, 1998

Congenital disorders of glycosylation (CDG): Quo vadis?

scientific article published on 24 October 2017

Congenital disorders of glycosylation: other causes of ichthyosis ⬇️

scientific article published on July 31, 2013

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

scientific article published on 10 February 2018

Correction: COG5-CDG: expanding the clinical spectrum.

scientific article published on 14 August 2013

Critical points for an accurate human genome analysis.

scientific article published on 4 May 2017

DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype ⬇️

scientific article published on July 11, 2012

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome ⬇️

scientific article published on February 2, 2009

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

scientific article published on April 30, 1998

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

scientific article published on 16 May 2018

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

scientific article published on 24 November 2016

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

scientific article

EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′EPCAM deletion ⬇️

scientific article published on June 26, 2013

Effect of different calcium modulators on motilin-induced contractions of the rabbit duodenum. Comparison with acetylcholine ⬇️

scientific article published on 01 June 1988

Effects of substance P on [Ca2+]i and force in intact guinea pig ileal smooth muscle ⬇️

scientific article published on 01 July 1990

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

scientific article published on 8 August 2016

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

scientific article

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene ⬇️

scientific article published on January 1, 1998

From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo

scientific article

Galactose Epimerase Deficiency: Expanding the Phenotype.

scientific article published in March 2017

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law ⬇️

scientific article published on June 8, 2011

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

scientific article published on 01 February 2016

Guidelines for diagnostic next-generation sequencing

scientific article published on 28 October 2015

Guidelines for diagnostic next-generation sequencing

scientific article published on October 2016

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia ⬇️

scientific article published on August 3, 2011

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip ⬇️

scientific article published on January 31, 2012

Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

scientific article published on 25 February 2020

Investigating the function of Gdt1p in yeast Golgi glycosylation.

scientific article published on 3 November 2017

Key features and clinical variability of COG6-CDG.

scientific article published on 29 July 2015

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A ⬇️

scientific article published on March 1, 1998

Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 27 August 2019

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

scientific article published on 08 October 2018

Manganese-induced turnover of TMEM165.

scientific article

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330) ⬇️

scientific article published on August 1, 1998

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

scientific article published on 29 April 2019

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

scientific article

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia ⬇️

scientific article published on February 1, 2003

PMM2-CDG and sensorineural hearing loss.

scientific article published on 31 July 2017

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

scientific article published on 31 January 2018

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation ⬇️

scientific article published on June 1, 1998

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

scientific article

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy

scientific article published on 10 October 2017

SLC37A4-CDG: Second patient

scientific article published on 06 January 2021

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

scientific article

SRD5A3-CDG: A patient with a novel mutation ⬇️

scientific article published on January 10, 2012

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

scientific article published on 3 September 2015

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes ⬇️

scientific article published on January 16, 2012

Structure of the human alpha-2 macroglobulin gene and its promotor

scientific article published on April 30, 1992

The EuroGentest Clinical Utility Gene Cards continued ⬇️

scientific article published on January 1, 2013

The Promoter of the Humanα2‐Macroglobulin Gene Binds HNF‐4 or a Related Nuclear Factor for Its Expression in Hepatocytes and Lung Fibroblasts ⬇️

scientific article published on September 10, 1994

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

scientific article published on 30 June 2016

The prenatal diagnosis of spinal muscular atrophy ⬇️

scientific article published on 01 June 1998

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients

scientific article published on 02 August 2018

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

scientific article

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