M. Bauters

发表

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

T. de Ravel, H. Van Esch, G. Froyen, 2015, European journal of medical genetics.

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

J. Gécz, P. Marynen, H. Ropers, 2007, Human Genetics.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes

P. Marynen, K. Devriendt, J. Vermeesch, 2007, Human mutation.

Evidence for increased SOX3 dosage as a risk factor for X‐linked hypopituitarism and neural tube defects

P. Marynen, H. Van Esch, J. Fryns, 2014, American journal of medical genetics. Part A.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia

Rob Pieters, Frank Speleman, Peter Marynen, 2007, Nature Genetics.

X-linked mental retardation and epigenetics

P. Marynen, T. Voet, G. Froyen, 2006, Journal of cellular and molecular medicine.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

J. Gécz, P. Marynen, H. Van Esch, 2005, American journal of human genetics.

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

K. Devriendt, J. Vermeesch, M. Bauters, 2020, European journal of medical genetics.

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

Y. Moreau, L. Tranchevent, K. Devriendt, 2012, American journal of medical genetics. Part A.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

P. Marynen, R. Stevenson, C. Schwartz, 2008, Genome research.

Challenges in molecular diagnosis of X-linked Intellectual disability.

H. Van Esch, V. Racé, L. Keldermans, 2020, British medical bulletin.

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

P. Marynen, H. Van Esch, G. Froyen, 2005, European journal of medical genetics.

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

H. Van Esch, J. Fryns, A. Jansen, 2007, American journal of medical genetics. Part A.

architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental

P. Marynen, R. Stevenson, C. Schwartz, 2008 .

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

S. Seneca, P. Marynen, E. Baere, 2014, Human Genetics.

Detection and validation of copy number variation in X-linked mental retardation

P. Marynen, H. Van Esch, H. Esch, 2009, Cytogenetic and Genome Research.

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

T. de Ravel, K. Devriendt, L. Lewi, 2020, European journal of medical genetics.

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

Bassem A. Hassan, Marion Langen, P. Verstreken, 2013, PloS one.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis

R. Sciot, F. Chibon, J. Coindre, 2012, The Journal of pathology.

Towards Better Prioritization of Epigenetically Modified DNA Regions

Bart De Moor, Yves Moreau, Georgios A. Pavlopoulos, 2012, SETN.

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

Y. Moreau, L. Tranchevent, K. Devriendt, 2012, European journal of medical genetics.

ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations

R. Sciot, S. Tejpar, J. Cassiman, 2007, FEBS letters.

BMPR 1 A is a candidate gene for congenital heart defects associated with the recurrent 10 q 22 q 23 deletion syndrome

Y. Moreau, L. Tranchevent, K. Devriendt, 2012 .

Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.

K. Devriendt, D. Cassiman, M. Declercq, 2020, Journal of hepatology.