Neoplasia, Ageing, and Genetic Instability due to Defective Caretaker Genes

por Hoehn, Holger, Neveling, Kornelia, Endt, Daniela, Melcher, Ralph, Schindler, Detlev
Publicado 2008

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

por de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin
Publicado 2021

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

por van Kessel, Maartje AHJ, Dutilh, Bas E, Neveling, Kornelia, Kwint, Michael P, Veltman, Joris A, Flik, Gert, Jetten, Mike SM, Klaren, Peter HM, Op den Camp, Huub JM
Publicado 2011

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

por Holtgrewe, Manuel, Knaus, Alexej, Hildebrand, Gabriele, Pantel, Jean-Tori, Santos, Miguel Rodriguez de los, Neveling, Kornelia, Goldmann, Jakob, Schubach, Max, Jäger, Marten, Coutelier, Marie, Mundlos, Stefan, Beule, Dieter, Sperling, Karl, Krawitz, Peter Michael
Publicado 2018

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families

por Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Khan, Yar Muhammad, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Iqbal, Muhammad Safdar, Azam, Maleeha, den Hollander, Anneke I., Collin, Rob W.J., Qamar, Raheel, Cremers, Frans P.M.
Publicado 2012

Genome-wide analysis in Escherichia coli unravels a high level of genetic homoplasy associated with cefotaxime resistance

por Coolen, Jordy P. M., den Drijver, Evert P. M., Verweij, Jaco J., Schildkraut, Jodie A., Neveling, Kornelia, Melchers, Willem J. G., Kolwijck, Eva, Wertheim, Heiman F. L., Kluytmans, Jan A. J. W., Huynen, Martijn A.
Publicado 2021

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

por Licastro, Danilo, Mutarelli, Margherita, Peluso, Ivana, Neveling, Kornelia, Wieskamp, Nienke, Rispoli, Rossella, Vozzi, Diego, Athanasakis, Emmanouil, D'Eustacchio, Angela, Pizzo, Mariateresa, D'Amico, Francesca, Ziviello, Carmela, Simonelli, Francesca, Fabretto, Antonella, Scheffer, Hans, Gasparini, Paolo, Banfi, Sandro, Nigro, Vincenzo
Publicado 2012

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

por de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.
Publicado 2023

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

por Palagyi, Andreas, Neveling, Kornelia, Plinninger, Ursula, Ziesch, Andreas, Targosz, Bianca-Sabrina, Denk, Gerald U, Ochs, Stephanie, Rizzani, Antonia, Meier, Daniel, Thasler, Wolfgang E, Hanenberg, Helmut, De Toni, Enrico N, Bassermann, Florian, Schäfer, Claus, Göke, Burkhard, Schindler, Detlev, Gallmeier, Eike
Publicado 2010

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

por Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Tayyab, Ali, Jaffar, Sulman, Sadeque, Ahmed, Ayub, Humaira, Abbasi, Nasir Mahmood, Riaz, Moeen, Micheal, Shazia, Gilissen, Christian, Ali, Syeda Hafiza Benish, Azam, Maleeha, Collin, Rob W. J., Cremers, Frans P. M., Qamar, Raheel
Publicado 2013

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

por Fadaie, Zeinab, Neveling, Kornelia, Mantere, Tuomo, Derks, Ronny, Haer-Wigman, Lonneke, den Ouden, Amber, Kwint, Michael, O’Gorman, Luke, Valkenburg, Dyon, Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Nelen, Marcel, Cremers, Frans P.M., Hoischen, Alexander, Roosing, Susanne
Publicado 2021

RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus

por Schildkraut, Jodie A., Coolen, Jordy P. M., Burbaud, Sophie, Sangen, Jasper J. N., Kwint, Michael P., Floto, R. Andres, op den Camp, Huub J. M., te Brake, Lindsey H. M., Wertheim, Heiman F. L., Neveling, Kornelia, Hoefsloot, Wouter, van Ingen, Jakko
Publicado 2022

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

por Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Publicado 2021

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

por Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia
Publicado 2022

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

por Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, van Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P
Publicado 2021

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

por Duvvari, Maheswara R., van de Ven, Johannes P. H., Geerlings, Maartje J., Saksens, Nicole T. M., Bakker, Bjorn, Henkes, Arjen, Neveling, Kornelia, del Rosario, Marisol, Westra, Dineke, van den Heuvel, Lambertus P. W. J., Schick, Tina, Fauser, Sascha, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado 2016

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

por Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina, Albrecht, Beate, Callewaert, Bert, von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Martin, Marcel, Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Publicado 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

por Keupp, Katharina, Li, Yun, Vargel, Ibrahim, Hoischen, Alexander, Richardson, Rebecca, Neveling, Kornelia, Alanay, Yasemin, Uz, Elif, Elcioğlu, Nursel, Rachwalski, Martin, Kamaci, Soner, Tunçbilek, Gökhan, Akin, Burcu, Grötzinger, Joachim, Konas, Ersoy, Mavili, Emin, Müller-Newen, Gerhard, Collmann, Hartmut, Roscioli, Tony, Buckley, Michael F, Yigit, Gökhan, Gilissen, Christian, Kress, Wolfram, Veltman, Joris, Hammerschmidt, Matthias, Akarsu, Nurten A, Wollnik, Bernd
Publicado 2013

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

por Reurink, Janine, de Vrieze, Erik, Li, Catherina H. Z., van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D. N., Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J. C., Ockeloen, Charlotte W., Haer-Wigman, Lonneke, Hoyng, Carel B., Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin
Publicado 2022

Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development

por Weren, Robbert DA, Venkatachalam, Ramprasath, Cazier, Jean‐Baptiste, Farin, Henner F, Kets, C Marleen, de Voer, Richarda M, Vreede, Lilian, Verwiel, Eugène TP, van Asseldonk, Monique, Kamping, Eveline J, Kiemeney, Lambertus A, Neveling, Kornelia, Aben, Katja KH, Carvajal‐Carmona, Luis, Nagtegaal, Iris D, Schackert, Hans K, Clevers, Hans, van de Wetering, Marc, Tomlinson, Ian P, Ligtenberg, Marjolijn JL, Hoogerbrugge, Nicoline, Geurts van Kessel, Ad, Kuiper, Roland P
Publicado 2015