Vermeesch, Joris: search on Z-Library

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1

A speculative outlook on embryonic aneuploidy: can molecular pathways be involved?

Tšuiko, Olga, Jatsenko, Tatjana, Parameswaran Grace, Lalit Kumar, Kurg, Ants, Vermeesch, Joris Robert, Lanner, Fredrik, Altmäe, Signe, Salumets, Andres

Journal:

Developmental Biology

Year:

2018

Language:

english

File:

PDF, 1.15 MB

english, 2018

2

Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes

Van Vooren, Steven, Coessens, Bert, De Moor, Bart, Moreau, Yves, Vermeesch, Joris R

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 247 KB

english, 2007

3

Conventional and single-molecule targeted sequencing method for specific variant detection in IKBKG whilst bypassing the IKBKGP1 pseudogene

Frans, Glynis, Meert, Wim, Van der Werff Ten Bosch, Jutte, Meyts, Isabelle, Bossuyt, Xavier, Vermeesch, Joris R., Hestand, Matthew S.

Journal:

The Journal of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 523 KB

english, 2017

4

High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations

Irina Balikova, Thomy de Ravel, Carmen Ayuso, Bernard Thienpont, Ingele Casteels, Cristina Villaverde, Koenraad Devriendt, Jean-Pierre Fryns, Joris Robert Vermeesch

Journal:

American Journal of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 2.92 MB

english, 2011

5

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

GadsbÃ¸ll, Kasper, Petersen, Olav BjÃ¸rn, Gatinois, Vincent, Strange, Heather, Jacobsson, Bo, Wapner, Ronald, Robert Vermeesch, Joris, Vogel, Ida, Shand, Antonia, Nowakowska, Beata, Peterlin, Borut, M

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2020

Language:

english

File:

PDF, 11.07 MB

english, 2020

6

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Jia, Yaojuan, Louw, Jacoba J., Breckpot, Jeroen, Callewaert, Bert, Barrea, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriend

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 507 KB

english, 2015

7

Mutational Processes Shaping the Genome in Early Human Embryos

Voet, Thierry, Vermeesch, Joris R.

Journal:

Year:

2017

Language:

english

File:

PDF, 703 KB

english, 2017

8

eXtasy: variant prioritization by genomic data fusion

Sifrim, Alejandro, Popovic, Dusan, Tranchevent, Leon-Charles, Ardeshirdavani, Amin, Sakai, Ryo, Konings, Peter, Vermeesch, Joris R, Aerts, Jan, De Moor, Bart, Moreau, Yves

Journal:

Year:

2013

Language:

english

File:

PDF, 303 KB

english, 2013

9

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

Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.

Journal:

BMC Medical Genomics

Year:

2018

Language:

english

File:

PDF, 2.53 MB

english, 2018

10

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Palomaki, Glenn E., Chiu, Rossa W.K., Pertile, Mark D., Sistermans, Erik A., Yaron, Yuval, Vermeesch, Joris Robert, Vora, Neeta L., Best, Robert G., WilkinsâHaug, Louise

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1.13 MB

2020

11

Left-ventricular non-compaction in a patient with monosomy 1p36

Bernard Thienpont, Luc Mertens, Gunnar Buyse, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

12

How can zygotes segregate entire parental genomes into distinct blastomeres? The zygote metaphase revisited

Destouni, Aspasia, Vermeesch, Joris R.

Journal:

Year:

2017

Language:

english

File:

PDF, 932 KB

english, 2017

13

22q11.2 deletion syndrome

McDonald-McGinn, Donna M., Sullivan, Kathleen E., Marino, Bruno, Philip, Nicole, Swillen, Ann, Vorstman, Jacob A. S., Zackai, Elaine H., Emanuel, Beverly S., Vermeesch, Joris R., Morrow, Bernice E., S

Journal:

Nature Reviews Disease Primers

Year:

2015

Language:

english

File:

PDF, 3.62 MB

english, 2015

14

A male with two idic(Y)(q12) chromosomes: A distinct phenotype resembling the XXXY/XXXXY syndrome

Nicole M.C. Maas, Joris R. Vermeesch, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 113 KB

english, 2005

15

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S

Journal:

Nucleic Acids Research

Year:

2018

Language:

english

File:

PDF, 1.53 MB

english, 2018

16

Reply to Hochstenbach et al

Vermeesch, Joris Robert, Rauch, Anita

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

17

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

18

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

19

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

Cosemans, Nele, Claes, Peter, Brison, Nathalie, Vermeesch, Joris Robert, Peeters, Hilde

Journal:

Statistical Applications in Genetics and Molecular Biology

Language:

english

File:

PDF, 2.26 MB

english

20

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

Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.

Journal:

Frontiers in Genetics

Year:

2018

Language:

english

File:

PDF, 292 KB

english, 2018

21

GENOME-WIDE PROFILING AND HAPLOTYPING OF CELL-FREE DNA ENABLING COMBINED NON-INVASIVE PRENATAL DIAGNOSIS OF INHERITED MONOGENIC DISEASES AND ANEUPLOIDY

Che, Huiwen, Vileila, Darine, Dimitriadou, Eftychia, Ding, Jia, Voet, Thierry, Vermeesch, Joris R.

Journal:

Reproductive BioMedicine Online

Year:

2019

Language:

english

File:

PDF, 42 KB

english, 2019

22

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

Lenaerts, Liesbeth, Tuveri, Stefania, Jatsenko, Tatjana, Amant, Frédéric, Vermeesch, Joris Robert

Journal:

Acta Clinica Belgica

Year:

2019

File:

PDF, 1.50 MB

2019

23

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

Joris Robert Vermeesch, Cindy Melotte, Ivo Salden, Mariluce Riegel, Vladimir Trifnov, Anna Polityko, Natalia Rumyantseva, Irina Naumchik, Heike Starke, Gert Matthijs, Albert Schinzel, Jean-Pierre Fryn

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 255 KB

english, 2005

24

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

25

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

26

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

27

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

28

Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition

Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O’Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda

Journal:

Communications Biology

Year:

2019

File:

PDF, 308 KB

2019

29

Characterization of centromere alterations in liposarcomas

Nicolas Sirvent, Anne Forus, Willy Lescaut, Fanny Burel, Sylvia Benzaken, Maurice Chazal, André Bourgeon, Joris R. Vermeesch, Ola Myklebost, Claude Turc-Carel, Noël Ayraud, Jean-Michel Coindre, Floren

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 424 KB

english, 2000

30

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients

Thomas De Raedt, Ophélia Maertens, Magdalena Chmara, Hilde Brems, Ine Heyns, Raf Sciot, Elisa Majounie, Meena Upadhyaya, Sofie De Schepper, Frank Speleman, Ludwine Messiaen, Joris Robert Vermeesch, Er

Journal:

Genes, Chromosomes and Cancer

Year:

2006

Language:

english

File:

PDF, 716 KB

english, 2006

31

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

Bernard Thienpont, Jeroen Breckpot, Joris R. Vermeesch, Marc Gewillig, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

32

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

33

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

34

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

35

7SCHIZOPHRENIA POLYGENIC RISK SCORE ANALYSIS IN 22Q11.2 DELETION SYNDROME

Monfeuga, Thomas, Epstein, Michael P., Holleman, Aaron M., Cleynen, Isabelle, Johnston, Henry, Zhao, Yingjie, McDonald-McGinn, Donna M., Gur, Raquel E., Warren, Stephen T., Vermeesch, Joris, Emanuel,

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 73 KB

english, 2019

36

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

Franck, Silvie, BarbÃ©, Lise, Ardui, Simon, De Vlaeminck, Yannick, Allemeersch, Joke, Dziedzicka, Dominika, Spits, Claudia, Vanroye, Fien, Hilven, Pierre, DuquÃ©, Geoffrey, Vermeesch, Joris R, Gheldof

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 670 KB

2020

37

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Breckpot, Jeroen, Takiyama, Yoshihisa, Thienpont, Bernard, Van Vooren, Steven, Vermeesch, Joris Robert, Ortibus, Els, Devriendt, Koenraad

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 162 KB

english, 2008

38

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2

Aimé Lumaka, Christine Van Hole, Ingele Casteels, Els Ortibus, Veerle De Wolf, Joris R. Vermeesch, Tshilobo Lukusa, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

39

Somatic Genomic Variations in Early Human Prenatal Development

Robberecht, Caroline, Vanneste, Evelyne, Pexsters, Anne, D'Hooghe, Thomas, Voet, Thierry, Vermeesch, Joris R.

Journal:

Current Genomics

Year:

2010

Language:

english

File:

PDF, 112 KB

english, 2010

40

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, Jeroen Breckpot, Helen Fryssira, Sophia Kitsiou-Tzeli, Meropi Tzoufi, Joris R. Vermeesch, Maria Syrrou, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 166 KB

english, 2009

41

O7: Single cell aneuploidy detection by array CGH

Cedric Le Caignec, Karen Sermon, Bernard Thienpont, Claudia Spits, Martine De Rycke, Andre Van Steirteghem, Inge Liebaers, Joris R. Vermeesch

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

42

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

43

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

44

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium

Van Elslande, Jan, Brison, Nathalie, Vermeesch, Joris R., Devriendt, Koenraad, Van Den Bogaert, Kris, Legius, Eric, Van Ranst, Marc, Vermeersch, Pieter, Billen, Jaak

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2019

Language:

english

File:

PDF, 97 KB

english, 2019

45

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

Lenaerts, Liesbeth, Tuveri, Stefania, Jatsenko, Tatjana, Amant, Frédéric, Vermeesch, Joris Robert

Journal:

Acta Clinica Belgica

Year:

2019

Language:

english

File:

PDF, 1.50 MB

english, 2019

46

A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome

Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-Pierre Fryns, Koenraad Devriendt, Joris R. Vermeesch

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 861 KB

english, 2012

47

Assignment of the human glypican gene (GPC1) to 2q35–q37 by fluorescence in situ hybridization

Joris R. Vermeesch, Griet Mertens, Guido David, Peter Marynen

Journal:

Year:

1995

Language:

english

File:

PDF, 312 KB

english, 1995

48

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

49

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

50

LEF1 haploinsufficiency causes ectodermal dysplasia

LÃ©vy, J., Capri, Y., Rachid, Myriam, Dupont, CÃ©line, Vermeesch, Joris Robert, Devrient, Koen, Verloes, Alain, Tabet, AnneâClaude, BailleulâForestier, Isabelle

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 1.26 MB

2020

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