Veltman, Joris A.: search on Z-Library

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1

Genetic studies in intellectual disability and related disorders

Vissers, Lisenka E. L. M., Gilissen, Christian, Veltman, Joris A.

Journal:

Nature Reviews Genetics

Year:

2015

Language:

english

File:

PDF, 335 KB

english, 2015

2

Exome sequencing and whole genome sequencing for the detection of copy number variation

Hehir-Kwa, Jayne Y, Pfundt, Rolph, Veltman, Joris A

Journal:

Expert Review of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 804 KB

english, 2015

3

Disease gene identification strategies for exome sequencing

Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 524 KB

english, 2012

4

Ipilimumab plus nivolumab and chemoradiotherapy followed by surgery in patients with resectable and borderline resectable T3-4N0â1 non-small cell lung cancer: the INCREASE trial

Dickhoff, Chris, Senan, Suresh, Schneiders, Famke L., Veltman, Joris, Hashemi, Sayed, Daniels, Johannes M. A., Fransen, Marieke, Heineman, David J., Radonic, Teodora, van de Ven, Peter M., Bartelink,

Journal:

Year:

2020

File:

PDF, 714 KB

2020

5

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Goldmann, Jakob M., Seplyarskiy, Vladimir B., Wong, Wendy S. W., Vilboux, Thierry, Neerincx, Pieter B., Bodian, Dale L., Solomon, Benjamin D., Veltman, Joris A., Deeken, John F., Gilissen, Christian,

Journal:

Nature Genetics

Year:

2018

Language:

english

File:

PDF, 2.62 MB

english, 2018

6

New insights into the generation and role of de novo mutations in health and disease

Acuna-Hidalgo, Rocio, Veltman, Joris A., Hoischen, Alexander

Journal:

Year:

2016

Language:

english

File:

PDF, 806 KB

english, 2016

7

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Tegtmeyer, Laura C., Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G., Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoo

Journal:

New England Journal of Medicine

Year:

2014

Language:

english

File:

PDF, 3.46 MB

english, 2014

8

Clinical exome sequencing in daily practice: 1,000 patients and beyond

Wendy A van Zelst-Stams,Hans Scheffer,Joris A Veltman

Journal:

Genome Medicine

Year:

2014

Language:

english

File:

PDF, 115 KB

english, 2014

9

STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

Smeekens, Sanne P., Plantinga, Theo S., van de Veerdonk, Frank L., Heinhuis, Bas, Hoischen, Alexander, Joosten, Leo A. B., Arkwright, Peter D., Gennery, Andrew, Kullberg, Bart Jan, Veltman, Joris A.,

Journal:

Year:

2011

Language:

english

File:

PDF, 277 KB

english, 2011

10

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

Journal:

Year:

2019

Language:

english

File:

PDF, 386 KB

english, 2019

11

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

Ilse Feenstra, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 269 KB

english, 2007

12

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

13

Comparison of Myelotoxicity and Nephrotoxicity Between Daily Low-Dose Cisplatin With Concurrent Radiation and Cyclic High-Dose Cisplatin in Non-Small Cell Lung Cancer Patients

Zazuli, Zulfan, Kos, Renate, Veltman, Joris D., Uyterlinde, Wilma, Longo, Cristina, Baas, Paul, Masereeuw, Rosalinde, Vijverberg, Susanne J. H., Maitland-van der Zee, Anke-Hilse

Journal:

Frontiers in Pharmacology

Year:

2020

File:

PDF, 1.07 MB

2020

14

Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines

Karin G. Hermans, Dirk C. van Alewijk, Joris A. Veltman, Wytske van Weerden, Ad Geurts van Kessel, Jan Trapman

Journal:

Genes, Chromosomes and Cancer

Year:

2004

Language:

english

File:

PDF, 533 KB

english, 2004

15

Understanding variable expressivity in microdeletion syndromes

Veltman, Joris A, Brunner, Han G

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 276 KB

english, 2010

16

De novo mutations in human genetic disease

Veltman, Joris A., Brunner, Han G.

Journal:

Nature Reviews Genetics

Year:

2012

Language:

english

File:

PDF, 460 KB

english, 2012

17

COX-2 inhibition improves immunotherapy and is associated with decreased numbers of myeloid-derived suppressor cells in mesothelioma. Celecoxib influences MDSC function

Joris D Veltman, Margaretha EH Lambers, Menno van Nimwegen, Rudi W Hendriks, Henk C Hoogsteden, Joachim GJV Aerts, Joost PJJ Hegmans

Journal:

Year:

2010

Language:

english

File:

PDF, 6.64 MB

english, 2010

18

Different Balance of Wnt Signaling in Adult and Fetal Bone Marrow-Derived Mesenchymal Stromal Cells

Paciejewska, Maja M., Maijenburg, Marijke W., Gilissen, Christian, Kleijer, Marion, Vermeul, Kim, Weijer, Kees, Veltman, Joris A., von Lindern, Marieke, van der Schoot, C. Ellen, Voermans, Carlijn

Journal:

Stem Cells and Development

Year:

2016

Language:

english

File:

PDF, 735 KB

english, 2016

19

Consolidative Dendritic Cell-based Immunotherapy Elicits Cytotoxicity against Malignant Mesothelioma

Hegmans, Joost P., Veltman, Joris D., Lambers, Margaretha E., de Vries, I. Jolanda M., Figdor, Carl G., W. Hendriks, Rudi, Hoogsteden, Henk C., Lambrecht, Bart N., Aerts, Joachim G.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2010

Language:

english

File:

PDF, 590 KB

english, 2010

20

Diagnostic Genome Profiling

Veltman, Joris A., de Vries, Bert B.A.

Journal:

The Journal of Molecular Diagnostics

Year:

2006

Language:

english

File:

PDF, 67 KB

english, 2006

21

Validation Study of Existing Gene Expression Signatures for Anti-TNF Treatment in Patients with Rheumatoid Arthritis

Toonen, Erik J. M., Gilissen, Christian, Franke, Barbara, Kievit, Wietske, Eijsbouts, Agnes M., den Broeder, Alfons A., van Reijmersdal, Simon V., Veltman, Joris A., Scheffer, Hans, Radstake, Timothy

Journal:

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

22

The role of de novo mutations in adult-onset neurodegenerative disorders

Nicolas, Gaël, Veltman, Joris A.

Journal:

Acta Neuropathologica

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018

23

Chromosome Instability as an Indicator of Malignant Progression in Laryngeal Mucosa

Veltman, Joris A., Bot, Fredrik J., Huynen, Ference C., Ramaekers, Frans C. S., Manni, Johannes J., Hopman, Anton H. N.

Journal:

Journal of Clinical Oncology

Year:

2000

Language:

english

File:

PDF, 410 KB

english, 2000

24

High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs

Gerwen Lammers, Christian Gilissen, Suzan T.M. Nillesen, Peter J.E. Uijtdewilligen, Ronnie G. Wismans, Joris A. Veltman, Willeke F. Daamen, Toin H. van Kuppevelt

Journal:

Year:

2010

Language:

english

File:

PDF, 2.54 MB

english, 2010

25

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Terry Vrijenhoek, Jacobine E. Buizer-Voskamp, Inge van der Stelt, Eric Strengman, Chiara Sabatti, Ad Geurts van Kessel, Han G. Brunner, Roel A. Ophoff, Joris A. Veltman

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 698 KB

english, 2008

26

De novomutations in mental retardation

Joris A Veltman

Journal:

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

27

Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells

Anna Sanecka, Marleen Ansems, Maaike A. van Hout-Kuijer, Maaike W.G. Looman, Amy C. Prosser, Suzanne Welten, Christian Gilissen, Iziah E. Sama, Martijn A. Huynen, Joris A. Veltman, Bastiaan J.H. Janse

Journal:

Molecular Immunology

Year:

2012

Language:

english

File:

PDF, 710 KB

english, 2012

28

P35: Frequent loss of chromosome 1p and 22q loci in insulinomas

Yvonne M.H. Jonkers, Sandra M.H. Claessen, Ton Feuth, Ad Geurts van Kessel, Frans C.S. Ramaekers, Joris A. Veltman, Ernst-Jan M. Speel

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 40 KB

english, 2005

29

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y

Journal:

Year:

2014

Language:

english

File:

PDF, 704 KB

english, 2014

30

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 1.38 MB

english, 2010

31

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

Journal:

Year:

2019

File:

PDF, 386 KB

2019

32

Trisomy for Synaptojanin1 in Down’s Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer’s Disease

Jeremie Lavaur, Jack Cossec, Alexander Hoischen, Samantha Stora, Magalie Lecourtois, Clotilde Mircher, Yann Grattau, Charles Duyckaerts, Stylianos Antonarakis, Joris Veltman, Jean-Christophe Olivo Mar

Journal:

Alzheimer's & Dementia

Year:

2011

Language:

english

File:

PDF, 81 KB

english, 2011

33

Diagnostic exome sequencing in intellectual disability

Veltman, Joris A.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 124 KB

english, 2013

34

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

Wills, Edgar S, Cnossen, Wybrich R, Veltman, Joris A, Woestenenk, Rob, Steehouwer, Marloes, Salomon, Jody, te Morsche, René H M, Huch, Meritxell, Hehir-Kwa, Jayne Y, Banning, Martijn J, Pfundt, Rolph,

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.25 MB

english, 2016

35

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

Acuna-Hidalgo, Rocio, Sengul, Hilal, Steehouwer, Marloes, van de Vorst, Maartje, Vermeulen, Sita H., Kiemeney, Lambertus A.L.M., Veltman, Joris A., Gilissen, Christian, Hoischen, Alexander

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

36

Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence

Goldmann, Jakob M., Seplyarskiy, Vladimir B., Wong, Wendy S. W., Vilboux, Thierry, Neerincx, Pieter B., Bodian, Dale L., Solomon, Benjamin D., Veltman, Joris A., Deeken, John F., Gilissen, Christian,

Journal:

Obstetric and Gynecologic Survey

Year:

2018

File:

PDF, 62 KB

2018

37

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

Gunadi,, Kalim, Alvin Santoso, Budi, Nova Yuli Prasetyo, Hafiq, Hamzah Muhammad, Maharani, Annisa, Febrianti, Maharani, Ryantono, Fiko, Yulianda, Dicky, Iskandar, Kristy, Veltman, Joris A.

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 456 KB

2020

38

Differential effects of Wnt signaling in adult and fetal bone marrow-derived MSCs

Paciejweska, Maja M., Maijenburg, Marijke W., gilissen, Christian, Kleijer, Marion, Weijer, Kees, Veltman, Joris A., Lindern, Marieke v., van der Schoot, e, Voermans, Carlijn

Journal:

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

39

From genes to genomes in the clinic

Veltman, Joris A., Lupski, James R.

Journal:

Genome Medicine

Year:

2015

Language:

english

File:

PDF, 336 KB

english, 2015

40

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics

Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

Journal:

Year:

2017

Language:

english

File:

PDF, 1.61 MB

english, 2017

41

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

Veltman, Imke M., Veltman, Joris A., Arkesteijn, Ger, Janssen, Irene M., Vissers, Lisenka E., Jong, Pieter J. de, Kessel, Ad Geurts van, Schoenmakers, Eric F.P.M.

Journal:

Year:

2003

Language:

english

File:

PDF, 612 KB

english, 2003

42

Double-target fluorescence in situ hybridization distinguishes multiple genetically aberrant clones in head and neck squamous cell carcinoma

Joris A. Veltman, Anton H. N. Hopman, Saskia A. van der Vlies, Fredrik J. Bot, Frans C. S. Ramaekers, Johannes J. Manni

Journal:

Cytometry Part A

Year:

1998

Language:

english

File:

PDF, 354 KB

english, 1998

43

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Christopher N. Vlangos, Amanda Siuniak, Todd Ackley, Hans van Bokhoven, Joris Veltman, Ram Iyer, John M. Park, Kim Keppler-Noreuil, Catherine E. Keegan

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 242 KB

english, 2011

44

Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpioL.)

Maartje AHJ van Kessel, Bas E Dutilh, Kornelia Neveling, Michael P Kwint, Joris A Veltman, Gert Flik, Mike SM Jetten, Peter HM Klaren, Huub JM Op den Camp

Journal:

Year:

2011

Language:

english

File:

PDF, 595 KB

english, 2011

45

Holoprosencephaly and preaxial polydactyly associated with a 1.24

David A. Koolen, Jos Herbergs, Joris A. Veltman, Rolph Pfundt, Hans van Bokhoven, Hans Stroink, Erik A. Sistermans, Han G. Brunner, Ad Geurts van Kessel, Bert B. A. de Vries

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 298 KB

english, 2006

46

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, C

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 730 KB

english, 2010

47

Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix

Frédéric Delom, Emma Burt, Alex Hoischen, Joris Veltman, Jürgen Groet, Finbarr E Cotter, Dean Nizetic

Journal:

Proteome Science

Year:

2009

Language:

english

File:

PDF, 2.02 MB

english, 2009

48

High-resolution genomic microarrays for X-linked mental retardation

Lugtenberg, Dorien, Veltman, Joris A, van Bokhoven, Hans

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 698 KB

english, 2007

49

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Mariëlle E.M. Swinkels, Annet Simons, Dominique F. Smeets, Lisenka E. Vissers, Joris A. Veltman, Rolph Pfundt, Bert B.A. de Vries, Brigitte H.W. Faas, Connie T.R.M. Schrander-Stumpel, Emma McCann, Eli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 224 KB

english, 2008

50

Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors

Martine Cools, Friedemann Honecker, Hans Stoop, Joris D. Veltman, Ronald R. de Krijger, Ewout Steyerberg, Katja P. Wolffenbuttel, Carsten Bokemeyer, Yun-Fai Chris Lau, Stenvert L.S. Drop, Leendert H.J

Journal:

Human Pathology

Year:

2006

Language:

english

File:

PDF, 786 KB

english, 2006

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