S. Vergult

发表

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Markus J. van Roosmalen, E. Cuppen, E. van Binsbergen, 2012, Cell reports.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

B. Menten, T. De Meyer, P. Volders, 2016, Scientific Reports.

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

S. Vergult, Eva D’haene, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of a novel recurrent 1q42.2‐1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Peter H. Sudmant, F. Antonacci, P. Sudmant, 2012, International journal of cancer.

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

B. Menten, A. Meurs, S. Janssens, 2014, European Journal of Human Genetics.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, bioRxiv.

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

L. Vissers, A. Hoischen, G. Carvill, 2015 .

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, American journal of human genetics.

Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines

F. Speleman, B. Menten, A. De Paepe, 2010, PloS one.

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

B. Menten, S. Vergult, A. Dheedene, 2013, Molecular Syndromology.

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Annapurna, Wierenga, E. Roeder, 2018 .

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

E. Cuppen, G. Mortier, F. Speleman, 2012 .

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

B. Menten, S. Vergult, B. Leroy, 2013, Molecular vision.

ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

Tom Sante, Wigard P. Kloosterman, Sarah Vergult, 2014, PloS one.

Array comparative genomic hybridization in male infertility.

B. Menten, H. Tournaye, W. Lissens, 2012, Human reproduction.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

S. Erdin, B. Menten, J. Gusella, 2022, bioRxiv.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2014, American journal of human genetics.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

C. Rivolta, T. Langmann, P. Farinelli, 2016, American journal of human genetics.

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

B. Menten, D. De Wolf, B. Callewaert, 2021, Genes.

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

B. Menten, B. Heindryckx, M. van der Jeught, 2017, Scientific Reports.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Edwin Cuppen, Tom Sante, Sarah Vergult, 2013, European Journal of Human Genetics.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

M. Parker, J. Humberson, A. Vanlander, 2020, Clinical genetics.

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

B. Menten, R. Birnbaum, Karen Verboom, 2018, Human molecular genetics.

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

E. Cuppen, E. van Binsbergen, R. Hochstenbach, 2014, Cell reports.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

B. Hallgrímsson, E. Bonora, F. Brancati, 2021, bioRxiv.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Justin L Cotney, T. Cox, Ellen Roets, 2022, bioRxiv.

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

K. Buysse, F. Speleman, B. Menten, 2010, American journal of medical genetics. Part A.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

The need for transparency and good practices in the qPCR literature

Erik Willems, Jo Vandesompele, Jim Huggett, 2013, Nature Methods.

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Tom Sante, Sarah Vergult, Björn Menten, 2016, Prenatal diagnosis.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

New insights into the phenotype of FARS2 deficiency

M. Minczuk, S. Seneca, B. Menten, 2017, Molecular genetics and metabolism.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics.

B. Menten, R. Birnbaum, Karen Verboom, 2020, Human molecular genetics.

Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)

M. Minczuk, S. Seneca, B. Menten, 2015, Human mutation.

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

B. Menten, H. Roeyers, A. Vanlander, 2018, Orphanet Journal of Rare Diseases.

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

K. Devriendt, A. Jansen, S. Vergult, 2020, Clinical genetics.

Expanding the Phenotype of B3GALNT2-Related Disorders

B. Menten, R. Kooy, B. Callewaert, 2022, Genes.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

J. Tena, J. Gómez-Skarmeta, S. Naranjo, 2023, bioRxiv.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Nurit Assia Batzir, B. Menten, B. Sadikovic, 2023, medRxiv.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Nasal speech in patients with 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

S. Brugmann, Ellen Roets, S. Vergult, 2024, Nature communications.