Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing von Corominas, Jordi, Klein, Marieke, Zayats, Tetyana, Rivero, Olga, Ziegler, Georg C., Pauper, Marc, Neveling, Kornelia, Poelmans, Geert, Jansch, Charline, Svirin, Evgeniy, Geissler, Julia, Weber, Heike, Reif, Andreas, Arias Vasquez, Alejandro, Galesloot, Tessel E., Kiemeney, Lambertus A. L. M., Buitelaar, Jan K., Ramos-Quiroga, Josep-Antoni, Cormand, Bru, Ribasés, Marta, Hveem, Kristian, Gabrielsen, Maiken Elvestad, Hoffmann, Per, Cichon, Sven, Haavik, Jan, Johansson, Stefan, Jacob, Christian P., Romanos, Marcel, Franke, Barbara, Lesch, Klaus-Peter

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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene von Meindl, Alfons, Wichmann, Hans E, Niederacher, Dieter, Hartmann, Linda, Schmutzler, Rita K, Kubisch, Christian, Neveling, Kornelia, Deißler, Helmut, Kiechle, Marion, Hellebrand, Heide, Hanenberg, Helmut, Lichtner, Peter, Engel, Christoph, Mathew, Christopher G, Wappenschmidt, Barbara, Erven, Verena, Honisch, Ellen, Schindler, Detlev, Freund, Marcel, Müller-Myhsok, Bertram, Wiek, Constanze, Ramser, Juliane, Kast, Karin, Schaal, Heiner

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Chromosome-level genome assembly of the sacoglossan sea slug Elysia timida (Risso, 1818) von Männer, Lisa, Schell, Tilman, Spies, Julia, Galià-Camps, Carles, Baranski, Damian, Ben Hamadou, Alexander, Gerheim, Charlotte, Neveling, Kornelia, Helfrich, Eric J N, Greve, Carola

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Mutation of the RAD51C gene in a Fanconi anemia-like disorder von Hanenberg, Helmut, Schindler, Detlev, Mathew, Christopher G, Vaz, Fiona, Schuster, Beatrice, Barker, Karen, Wiek, Constanze, Erven, Verena, Neveling, Kornelia, Endt, Daniela, Kesterton, Ian, Autore, Flavia, Fraternali, Franca, Freund, Marcel, Hartmann, Linda, Grimwade, David, Roberts, Roland G, Schaal, Heiner, Mohammed, Shehla, Rahman, Nazneen

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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability von Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy von Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde

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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome von de Koning, Heleen D., MD, van Gijn, Mariëlle E., MD, PhD, Stoffels, Monique, PhD, Jongekrijg, Johanna, BSc, Zeeuwen, Patrick L.J.M., PhD, Elferink, Martin G., PhD, Nijman, Isaac J., PhD, Jansen, Patrick A.M., PhD, Neveling, Kornelia, PhD, van der Meer, Jos W.M., MD, PhD, Schalkwijk, Joost, PhD, Simon, Anna, MD, PhD

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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer von Seal, Sheila, Barker, Karen, Ariffin, Hany, Rahman, Nazneen, Hanks, Sandra, Hanenberg, Helmut, Reid, Sarah, Freund, Marcel, Kelly, Patrick, Auerbach, Arleen D, Wurm, Melanie, Tischkowitz, Marc, Batish, Sat Dev, Mathew, Christopher G, Yetgin, Sevgi, Neveling, Kornelia, Lach, Francis P, Schindler, Detlev, Kalb, Reinhard, Neitzel, Heidemarie

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome von Koolen, David A, Kramer, Jamie M, Neveling, Kornelia, Nillesen, Willy M, Moore-Barton, Heather L, Elmslie, Frances V, Toutain, Annick, Amiel, Jeanne, Malan, Valérie, Tsai, Anne Chun-Hui, Cheung, Sau Wai, Gilissen, Christian, Verwiel, Eugene T P, Martens, Sarah, Feuth, Ton, Bongers, Ernie M H F, de Vries, Petra, Scheffer, Hans, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Brunner, Han G, Veltman, Joris A, Schenck, Annette, Yntema, Helger G, de Vries, Bert B A

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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa von Siemiatkowska, Anna M., PhD, van den Born, L. Ingeborgh, MD, PhD, van Hagen, P. Martin, MD, PhD, Stoffels, Monique, MSc, Neveling, Kornelia, PhD, Henkes, Arjen, BSc, Kipping-Geertsema, Mieke, BSc, Hoefsloot, Lies H., PhD, Hoyng, Carel B., MD, PhD, Simon, Anna, MD, PhD, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, Collin, Rob W.J., PhD

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

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia von Levran, Orna, Milton, Kelly L, Henry, Rashida T, Neveling, Kornelia, Ott, Jurg, Attwooll, Claire, Rio, Paula, Schindler, Detlev, Petrini, John, Batish, Sat Dev, Auerbach, Arleen D, Velleuer, Eunike, Kalb, Reinhard, Barral, Sandra, Hanenberg, Helmut

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

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

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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy von Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

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

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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity von Saksens, Nicole T M, Krebs, Mark P, Schoenmaker-Koller, Frederieke E, Hicks, Wanda, Yu, Minzhong, Shi, Lanying, Rowe, Lucy, Collin, Gayle B, Charette, Jeremy R, Letteboer, Stef J, Neveling, Kornelia, van Moorsel, Tamara W, Abu-Ltaif, Sleiman, De Baere, Elfride, Walraedt, Sophie, Banfi, Sandro, Simonelli, Francesca, Cremers, Frans P M, Boon, Camiel J F, Roepman, Ronald, Leroy, Bart P, Peachey, Neal S, Hoyng, Carel B, Nishina, Patsy M, den Hollander, Anneke I

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

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease von Marouane, Abderrahim, Neveling, Kornelia, Deden, A Chantal, van den Heuvel, Simone, Zafeiropoulou, Dimitra, Castelein, Steven, van de Veerdonk, Frank, Koolen, David A, Simons, Annet, Rodenburg, Richard, Westra, Dineke, Mensenkamp, Arjen R, de Leeuw, Nicole, Ligtenberg, Marjolijn, Matthijsse, Rene, Pfundt, Rolph, Kamsteeg, Erik Jan, Brunner, Han G, Gilissen, Christian, Feenstra, Ilse, de Boode, Willem P, Yntema, Helger G, van Zelst-Stams, Wendy A G, Nelen, Marcel, Vissers, Lisenka E L M

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

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