Effects of developmental plasticity on heat tolerance may be mediated by changes in cell size in Drosophila melanogaster

Authors: Verspagen, Nadja, Leiva, Félix P., Janssen, Irene M., Verberk, Wilco C. E. P.

Source: Insect science. 27(6):1244-1256

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109061139.0x000001&indx=1&recIds=ETOCvdc_100109061139.0x000001

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Authors: Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Prof. Dr, Hehir-Kwa, Jayne Y.

Source: In Genetics in Medicine June 2017 19(6):667-675

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

Authors: Faas, Brigitte HW, de Ligt, Joep, Janssen, Irene, Eggink, Alex J, Wijnberger, Lia DE, van Vugt, John MG, Vissers, Lisenka, Geurts van Kessel, Ad

Source: Expert opinion on biological therapy. 12:S19-S26

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Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

Authors: Schraders, Margit ^*, Pfundt, Rolph, Straatman, Huub M.P., Janssen, Irene M., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., van Krieken, Johan H.J.M., Groenen, Patricia J.T.A.

Source: In Blood 15 February 2005 105(4):1686-1693

Diagnostic Genome Profiling in Mental Retardation

Authors: de Vries, Bert B.A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E.L.M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H.L.P.G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M.A., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Brunner, Han G., Veltman, Joris A.

Source: In The American Journal of Human Genetics 2005 77(4):606-616

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Authors: Vissers, Lisenka E.L.M., de Vries, Bert B.A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, Straatman, Huub, van der Vliet, Walter, Huys, Erik H.L.P.G., van Rijk, Anke, Smeets, Dominique, van Ravenswaaij-Arts, Conny M.A., Knoers, Nine V., van der Burgt, Ineke, de Jong, Pieter J., Brunner, Han G., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Veltman, Joris A. ^**

Source: In The American Journal of Human Genetics 2003 73(6):1261-1270

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

Authors: Veltman, Joris A., Schoenmakers, Eric F.P.M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts

Source: In The American Journal of Human Genetics May 2002 70(5):1269-1276

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13∼q22 breakpoints

Authors: Bodmer, Daniëlle ^*, Janssen, Irene, Jonkers, Yvonne, van den Berg, Eva, Dijkhuizen, Trijnie, Debiec-Rychter, Maria, Schoenmakers, Eric, van Kessel, Ad Geurts

Source: In Cancer Genetics and Cytogenetics 2002 136(2):95-100

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24 h after venipuncture

Authors: Buysse, Karen, Beulen, Lean, Gomes, Ingrid, Gilissen, Christian, Keesmaat, Chantal, Janssen, Irene M., Derks-Willemen, Judith J.H.T., de Ligt, Joep, Feenstra, Ilse, Bekker, Mireille N., van Vugt, John M.G., Geurts van Kessel, Ad, Vissers, Lisenka E.L.M., Faas, Brigitte H.W.

Source: In Clinical Biochemistry December 2013 46(18):1783-1786

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Authors: Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.

Source: In The American Journal of Human Genetics 7 December 2012 91(6):1073-1081

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Genome sequencing identifies major causes of severe intellectual disability.

Authors: Gilissen, Christian, Hehir-Kwa, Jayne Y., Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W. M., Willemsen, Marjolein H., Kwint, Michael, Janssen, Irene M., Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G., de Vries, Bert B. A., Kleefstra, Tjitske, Brunner, Han G., Vissers, Lisenka E. L. M.

Source: Nature. 7/17/2014, Vol. 511 Issue 7509, p344-347. 4p.

Subjects: DNA copy number variations, SINGLE nucleotide polymorphisms, NUCLEOTIDE sequencing, MOLECULAR diagnosis, HUMAN chromosome abnormality diagnosis, INTELLECTUAL disabilities, GENETICS

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