G. Froyen

发表

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Kenneth Offit, Diether Lambrechts, Gil Atzmon, 2014, Nature Communications.

Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis

Bart De Moor, Frank Speleman, Björn Menten, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

E. Yaksi, T. de Ravel, V. Baert, 2013, The Journal of cell biology.

Rer 1 p maintains ciliary length and signaling by regulating-secretase activity and Foxj 1 a levels

E. Yaksi, V. Baert, W. Annaert, 2013 .

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.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Tao Wang, Gavin Rumbaugh, Lilei Zhang, 2007, Proceedings of the National Academy of Sciences.

Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background

P. Marynen, T. Voet, L. Schoonjans, 2012, Nucleic acids research.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Prognostic Biomarkers in the Progression From MGUS to Multiple Myeloma: A Systematic Review

K. Vanhees, I. Arijs, B. Maes, 2018, Clinical lymphoma, myeloma & leukemia.

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

K. Devriendt, J. Vermeesch, J. Deprest, 2014, European Journal of Human Genetics.

Large-scale analysis of tandem repeat variability in the human genome

A. Jansen, K. Verstrepen, J. Vermeesch, 2014, Nucleic acids research.

Archival May-Grünwald-Giemsa-Stained Bone Marrow Smears Are an Eligible Source for Molecular DNA Research.

L. Linsen, K. Vanhees, I. Arijs, 2019, Biopreservation and biobanking.

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.

A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3

J. Cigudosa, M. Tejada, F. Acquadro, 2011, Pediatrics.

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.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

HLA-I diversity and tumor mutational burden by comprehensive next-generation sequencing as predictive biomarkers for the treatment of non-small cell lung cancer with PD-(L)1 inhibitors.

P. Baas, M. Thomeer, E. Geerdens, 2022, Lung cancer.

Granulocyte chemotactic protein‐2 and related CXC chemokines: from gene regulation to receptor usage

Ji Ming Wang, G. Opdenakker, A. Billiau, 1997, Journal of leukocyte biology.

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.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

A. Munnich, N. Boddaert, H. Esch, 2012, European Journal of Human Genetics.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

M. Ribeiro, E. Medina-Acosta, C. Santos-Rebouças, 2013, European Journal of Human Genetics.

Novel PORCN mutations in focal dermal hypoplasia

P. Marynen, K. Devriendt, H. Van Esch, 2009, Clinical genetics.

Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

J. Oliveira, A. D. de Brouwer, M. Brito, 2013, Journal of Medical Genetics.

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

Enni Markkanen, G. Dianov, F. Raymond, 2018, Scientific Reports.

Reply : Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

G. Froyen, J. Vandewalle, R. Scott, 2010 .

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.

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Jussara Mendonça dos Santos, M. Ribeiro, E. Medina-Acosta, 2015, Journal of Human Genetics.

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

K. Õunap, H. Esch, M. Raynaud, 2014, Human mutation.

A longer tracheal occlusion period results in increased lung growth in the nitrofen rat model

J. Deprest, P. Klaritsch, G. Froyen, 2012, Prenatal diagnosis.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

J. Gécz, P. Marynen, S. Lenzner, 2008, European Journal of Human Genetics.

Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors

E. Geerdens, B. Maes, G. Froyen, 2022, Cancers.

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

P. Marynen, J. Fryns, E. Legius, 2002, American journal of medical 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.

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.

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

S. Haas, Wei Chen, H. Richard, 2009, The HUGO Journal.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities

P. Campbell, D. Leongamornlert, G. Morgan, 2021, Nature Communications.

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

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

D. Horn, H. Van Esch, M. Bonin, 2010, American journal of medical genetics. Part A.

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.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

P. Marynen, H. Van Esch, C. Spaich, 2009, American journal of human genetics.

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

T. de Ravel, K. Devriendt, J. Vermeesch, 2012, 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.

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

P. Marynen, K. Devriendt, J. Vermeesch, 2005, Human molecular genetics.

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

Whole genome sequencing provides evidence of two biologically and clinically distinct entities of asymptomatic monoclonal gammopathies: progressive versus stable myeloma precursor condition

P. Campbell, D. Leongamornlert, G. Morgan, 2020, bioRxiv.

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.

Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors

R. Achten, B. Maes, G. Froyen, 2016, PloS one.

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

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

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

K. Verstrepen, J. Vermeesch, H. Van Esch, 2018, BMC Medical Genomics.

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.

Generation and Characterization of an Nxf7 Knockout Mouse to Study NXF5 Deficiency in a Patient with Intellectual Disability

R. D'Hooge, P. Marynen, A. Roebroek, 2013, PloS one.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

hybridisationarray-based comparative genome multiplex ligation-dependent probe amplification approach of microsatellite segregation analysis, craniosynostosis detected by a combined imbalances in patients with syndromic High frequency of submicroscopic chromosomal

C. Kim, J. Mazzeu, D. Cavalcanti, 2009 .

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

M. Passos-Bueno, C. Kim, F. Jehee, 2008, Journal of Medical Genetics.

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

S. Haas, H. Van Esch, I. Järvelä, 2014, Orphanet Journal of Rare Diseases.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human 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.

Potential therapeutic use of antibodies directed towards HuIFN-γ

A. Billiau, A. Billiau, G. Froyen, 1997, Biotherapy.

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function

Bassem A. Hassan, B. Hassan, K. Devriendt, 2015, EMBO molecular medicine.

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.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

J. Gécz, P. Palta, H. Ropers, 2007, European journal of medical genetics.

Cloning and expression in Escherichia coli of a human gelatinase B‐inhibitory single‐chain immunoglobulin variable fragment (scFv)

G. Opdenakker, N. Zhou, G. Froyen, 1997, FEBS letters.

The Dynamics of Nucleotide Variants in the Progression from Low–Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing Approach

N. Bolli, L. Linsen, E. Geerdens, 2022, Cancers.

Partial duplications of the ATRX gene cause the ATR-X syndrome

K. Devriendt, J. Vermeesch, B. Thienpont, 2007, European Journal of Human Genetics.

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

P. Marynen, E. Izaurralde, C. Dotti, 2001, Current Biology.

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

R. D'Hooge, P. Marynen, J. Steyaert, 2003, Human molecular genetics.

Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel

Joni Van der Meulen, Guy Froyen, Marie Le Mercier, 2019, Cancers.

Identification of intellectual disability genes in female patients with skewed X-inactivation

S. Seneca, P. Marynen, K. Devriendt, 2015 .

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality

V. Kalscheuer, H. Esch, Linzhao Cheng, 2014, Human mutation.

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

H. Ropers, H. Van Esch, H. van Bokhoven, 2009, The Journal of molecular diagnostics : JMD.

A. Koivisto, I. Järvelä, T. Särkämö, 2007, American journal of medical genetics. Part A.

X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1

J. Opitz, E. Bertini, J. Chelly, 2008, American journal of medical genetics. Part A.

Liquid Biopsy in Early-Stage Lung Cancer: Current and Future Clinical Applications

B. Maes, G. Froyen, K. Pat, 2023, Cancers.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

P. Marynen, K. Devriendt, H. Ropers, 2003, American journal of medical genetics. Part A.

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

K. Verstrepen, J. Vermeesch, H. Van Esch, 2018, BMC Medical Genomics.

Nxf7 deficiency impairs social exploration and spatio-cognitive abilities as well as hippocampal synaptic plasticity in mice

R. D'Hooge, P. Marynen, D. Balschun, 2015, Front. Behav. Neurosci..

Targeted next‐generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics

N. Put, R. Achten, K. Theunissen, 2017, International journal of laboratory hematology.

Clinical study and haplotype analysis in two brothers with Partington syndrome.

P. Marynen, J. Fryns, G. Froyen, 2002, American journal of medical genetics.

Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

Enni Markkanen, G. Dianov, F. Raymond, 2017, Scientific Reports.

Single allele knock-out of Candida albicans CGT1 leads to unexpected resistance to hygromycin B and elevated temperature.

R. Contreras, W. Luyten, R. de Hoogt, 2000, Microbiology.

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

P. Marynen, T. de Ravel, K. Devriendt, 2004, Journal of Medical 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.

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

P. Marynen, K. Devriendt, J. Vermeesch, 2004, Journal of Medical Genetics.