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101

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

Jeroen Breckpot, Werner Budts, Francis De Zegher, Joris R. Vermeesch, Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 378 KB

english, 2010

102

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

Jeroen Breckpot, Léon-Charles Tranchevent, Bernard Thienpont, Marijke Bauters, Els Troost, Marc Gewillig, Joris R. Vermeesch, Yves Moreau, Koenraad Devriendt, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

103

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial

Sophie Debrock, Cindy Melotte, Carl Spiessens, Karen Peeraer, Evelyne Vanneste, Luc Meeuwis, Christel Meuleman, Jean-Pierre Frijns, Joris R. Vermeesch, Thomas M. D'Hooghe

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 180 KB

english, 2010

104

Genomic Organisation, Chromosomal Localisation Tissue Distribution and Developmental Regulation of the PR61/B′ Regulatory Subunits of Protein Phosphatase 2A in Mice

Ellen Martens, Ilse Stevens, Veerle Janssens, Joris Vermeesch, Jürgen Götz, Jozef Goris, Christine Van Hoof

Journal:

Journal of Molecular Biology

Year:

2004

Language:

english

File:

PDF, 3.51 MB

english, 2004

105

Genomic organization and evolution of the NF1 microdeletion region

Thomas De Raedt, Hilde Brems, Catalina Lopez-Correa, Joris Robert Vermeesch, Peter Marynen, Eric Legius

Journal:

Year:

2004

Language:

english

File:

PDF, 1.81 MB

english, 2004

106

The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping

Dmitry Novikov, Martine Dieuaide-Noubhani, Joris R Vermeesch, Beatrice Fournier, Guy P Mannaerts, Paul P Van Veldhoven

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1997

Language:

english

File:

PDF, 430 KB

english, 1997

107

A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32

Mark Veugelers, Bart De Cat, Nathalie Delande, Carl Esselens, Ines Bonk, Joris Vermeesch, Peter Marynen, Jean-Pierre Fryns, Guido David

Journal:

Year:

2001

Language:

english

File:

PDF, 1.02 MB

english, 2001

108

Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22

Paul P. Van Veldhoven, Sofie Gijsbers, Guy P. Mannaerts, Joris R. Vermeesch, Vanessa Brys

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2000

Language:

english

File:

PDF, 714 KB

english, 2000

109

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

Joris A. Veltman, Yvonne Jonkers, Inge Nuijten, Irene Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean-Pierre Fryns, Ronald Admiraal, Paulien Terhal, Didier Lacomb

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 550 KB

english, 2003

110

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

Pawandeep Dhami, Alison J. Coffey, Stephen Abbs, Joris R. Vermeesch, Jan P. Dumanski, Karen J. Woodward, Robert M. Andrews, Cordelia Langford, David Vetrie

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 875 KB

english, 2005

111

Reply to Salviati et al.

Damien Sanlaville, Capucine Delnatte, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Mi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 99 KB

english, 2006

112

Array technology in prenatal diagnosis

Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

113

Fetal surgery is a clinical reality

Jan A. Deprest, Roland Devlieger, Kasemsri Srisupundit, Veronika Beck, Inga Sandaite, Silvia Rusconi, Filip Claus, Gunnar Naulaers, Marc Van de Velde, Paul Brady, Koen Devriendt, Joris Vermeesch, Jaan

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2010

Language:

english

File:

PDF, 506 KB

english, 2010

114

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Mi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 283 KB

english, 2006

115

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns, Joris Vermeesch

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 645 KB

english, 2012

116

Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

Michils, GeneviÃ¨ve, Hollants, Silke, Dehaspe, Luc, Van Houdt, Jeroen, Bidet, Yannick, Uhrhammer, Nancy, Bignon, Yves-Jean, Vermeesch, Joris R., Cuppens, Harry, Matthijs, Gert

Journal:

The Journal of Molecular Diagnostics

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

117

The Future of Prenatal Cytogenetics: From Copy Number Variations to Non-invasive Prenatal Testing

Brady, Paul, Ardui, Simon, Vermeesch, Joris Robert

Journal:

Current Genetic Medicine Reports

Year:

2013

Language:

english

File:

PDF, 216 KB

english, 2013

118

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Brady, Paul D., Van Houdt, Jeroen, Callewaert, Bert, Deprest, Jan, Devriendt, Koenraad, Vermeesch, Joris R.

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 476 KB

english, 2014

119

FANCA knockout in human embryonic stem cells causes a severe growth disadvantage

Vanuytsel, Kim, Cai, Qing, Nair, Nisha, Khurana, Satish, Shetty, Swati, Vermeesch, Joris R., Ordovas, Laura, Verfaillie, Catherine M.

Journal:

Stem Cell Research

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

120

Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia

Brady, Paul D., Srisupundit, Kasemsri, Devriendt, Koenraad, Fryns, Jean-Pierre, Deprest, Jan A., Vermeesch, Joris R.

Journal:

Fetal Diagnosis and Therapy

Year:

2011

Language:

english

File:

PDF, 398 KB

english, 2011

121

Piecing together the problems in diagnosing low-level chromosomal mosaicism

Caroline Robberecht,Jean-Pierre Fryns,Joris Robert Vermeesch

Journal:

Genome Medicine

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

122

Preimplantation genetic diagnosis guided by single-cell genomics

Niels Van der Aa,Masoud Zamani Esteki,Joris R Vermeesch,Thierry Voet

Journal:

Genome Medicine

Year:

2013

Language:

english

File:

PDF, 168 KB

english, 2013

123

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial

Deprest, Jan, Brady, Paul, Nicolaides, Kypros, Benachi, Alexandra, Berg, Christoph, Vermeesch, Joris, Gardener, Glenn, Gratacos, Eduard

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2014

Language:

english

File:

PDF, 1.62 MB

english, 2014

124

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

Posmyk, Renata, Leśniewicz, Ryszard, Gogiel, Magdalena, Chorąży, Monika, Bakunowicz-Łazarczyk, Alina, Sielicka, Danuta, Vermeesch, Joris, Nowakowska, Beata Anna

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 579 KB

english, 2014

125

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations

Ardeshirdavani, Amin, Souche, Erika, Dehaspe, Luc, Van Houdt, Jeroen, Vermeesch, Joris, Moreau, Yves

Journal:

Genome Medicine

Year:

2014

Language:

english

File:

PDF, 2.29 MB

english, 2014

126

Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36

Breckpot, Jeroen, Hermans, Robert, Poorten, Vincent Vander, Vermeesch, Joris R., Devriendt, Koenraad

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

127

Telomere processing in Euplotes

Vermeesch, Joris R., Williams, Dewight, Price, Carolyn M.

Journal:

Nucleic Acids Research

Year:

1993

Language:

english

File:

PDF, 1.89 MB

english, 1993

128

Single cell segmental aneuploidy detection is compromised by S phase

Dimitriadou, Eftychia, Van der Aa, Niels, Cheng, Jiqiu, Voet, Thierry, Vermeesch, Joris R

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

129

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments

Herten, Koen, Hestand, Matthew S, Vermeesch, Joris R, Van Houdt, Jeroen KJ

Journal:

BMC Bioinformatics

Year:

2015

Language:

english

File:

PDF, 434 KB

english, 2015

130

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

Brady, Paul D, Van Esch, Hilde, Fieremans, Nathalie, Froyen, Guy, Slavotinek, Anne, Deprest, Jan, Devriendt, Koenraad, Vermeesch, Joris R

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 354 KB

english, 2015

131

Aneuploidy and Copy Number Variation in Early Human Development

Vanneste, Evelyne, Van der Aa, Niels, Voet, Thierry, Vermeesch, Joris

Journal:

Seminars in Reproductive Medicine

Year:

2012

Language:

english

File:

PDF, 300 KB

english, 2012

132

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, C

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 577 KB

english, 2012

133

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

134

Polymerase specific error rates and profiles identified by single molecule sequencing

Hestand, Matthew S., Houdt, Jeroen Van, Cristofoli, Francesca, Vermeesch, Joris R.

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2016

Language:

english

File:

PDF, 640 KB

english, 2016

135

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

Demaerel, Wolfram, Hosseinzadeh, Majid, Nouri, Nayereh, Sedghi, Maryam, Dimitriadou, Eftychia, Salehi, Mansoor, Abdali, Hossein, Memarzadeh, Mehrdad, Zamani, Mahdi, Vermeesch, Joris R.

Journal:

Cytogenetic and Genome Research

Year:

2016

Language:

english

File:

PDF, 147 KB

english, 2016

136

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.34 MB

english, 2016

137

Anterior cervical hypertrichosis and mental retardation

Thienpont, Bernard, Vermeesch, Joris, Devriendt, Koen

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

138

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

Poelmans, Simon, Kawamoto, Tatsuro, Cristofoli, Francesca, Politis, Constantinus, Vermeesch, Joris, Bailleul-Forestier, Isabelle, Hens, Greet, Devriendt, Koenraad, Verdonck, Anna, Carels, Carine

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 946 KB

english, 2015

139

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

Schuring-Blom, Heleen, Lichtenbelt, Klaske, van Galen, Karin, Elferink, Martin, Weiss, Marjan, Vermeesch, Joris Robert, Page-Christiaens, Lieve

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 709 KB

english, 2016

140

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

Guo, Xingyi, Delio, Maria, Haque, Nousin, Castellanos, Raquel, Hestand, Matthew S., Vermeesch, Joris R., Morrow, Bernice E., Zheng, Deyou

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.14 MB

english, 2016

141

Prenatal and pre-implantation genetic diagnosis

Vermeesch, Joris Robert, Voet, Thierry, Devriendt, Koenraad

Journal:

Nature Reviews Genetics

Year:

2016

Language:

english

File:

PDF, 1.21 MB

english, 2016

142

Skeletal Muscle Repair by Adult Human Mesenchymal Stem Cells from Synovial Membrane

Cosimo De Bari, Francesco Dell'Accio, Frank Vandenabeele, Joris R. Vermeesch, Jean-Marc Raymackers and Frank P. Luyten

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 1.53 MB

english, 2003

143

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

Ardui, Simon, Race, Valerie, Zablotskaya, Alena, Hestand, Matthew S., Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.

Journal:

Year:

2016

Language:

english

File:

PDF, 783 KB

english, 2016

144

Current controversies in prenatal diagnosis 3: Industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening.

Evans, Mark I., Vermeesch, Joris Robert

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 480 KB

english, 2016

145

Detecting mosaicism in trophectoderm biopsies

Sermon, Karen D., Spits, Claudia, Mertzanidou, Afroditi, Vermeesch, Joris R., Fiorentino, Francesco

Journal:

Human Reproduction

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

146

NGS-Logistics: data infrastructure for efficient analysis of NGS sequence variants across multiple centers

Ardeshirdavani, Amin, Souche, Erika, Dehaspe, Luc, Van Houdt, Jeroen, Vermeesch, Joris, Moreau, Yves

Journal:

BMC Bioinformatics

Year:

2015

Language:

english

File:

PDF, 849 KB

english, 2015

147

Low-pass Sequencing of Plasma Cell DNA and of ccfDNA for the Detection of Copy Number Aberrations and Early Response Monitoring in Multiple Myeloma

Dewaele, Barbara, Smits, Sanne, Dehaspe, Luc, Ding, Jia, Delforge, Michel, Van Houdt, Jeroen, Brison, Nathalie, Lemmens, Heidi, Michaux, Lucienne, Vermeesch, Joris, Vandenberghe, Peter

Journal:

Clinical Lymphoma Myeloma and Leukemia

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

148

Chromosomal phenotypes and submicroscopic abnormalities

Koen Devriendt,Joris R. Vermeesch

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

149

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

Cristofoli, Francesca, De Keersmaecker, Bart, De Catte, Luc, Vermeesch, Joris R., Van Esch, Hilde

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 343 KB

english, 2017

150

An Incidental Finding of Maternal Multiple Myeloma by Non Invasive Prenatal Testing

Imbert-Bouteille, Marion, Chiesa, Jean, Gaillard, Jean-Baptiste, Dorvaux, Véronique, Altounian, Lucille, Gatinois, Vincent, Mousty, Eve, Finge, Sanae, Bourquard, Pascal, Vermeesch, Joris Robert, Legiu

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 910 KB

english, 2017

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