Novel bioinformatic developments for exome sequencing

Por Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian
Publicado no Hum Genet (2016)

Disease gene identification strategies for exome sequencing

Por Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Publicado em 2012

Unlocking Mendelian disease using exome sequencing

Por Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Publicado em 2011

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

Por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado no Hum Mutat (2015)

The heat shock response restricts virus infection in Drosophila

Por Merkling, Sarah H., Overheul, Gijs J., van Mierlo, Joël T., Arends, Daan, Gilissen, Christian, van Rij, Ronald P.
Publicado no Sci Rep (2015)

Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells

Por Tang, Leilei, Bergevoet, Saskia M, Gilissen, Christian, de Witte, Theo, Jansen, Joop H, van der Reijden, Bert A, Raymakers, Reinier AP
Publicado em 2010

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

Por Taylor, Peter J., Betts, Grant A., Maroulis, Sarah, Gilissen, Christian, Pedersen, Robyn L., Mowat, David R., Johnston, Heather M., Buckley, Michael F.
Publicado em 2010

Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients

Por Langemeijer, Saskia MC, Mariani, Niccolo, Knops, Ruth, Gilissen, Christian, Woestenenk, Rob, de Witte, Theo, Huls, Gerwin, van der Reijden, Bert A, Jansen, Joop H
Publicado no PLoS One (2016)

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

Por Tønne, Elin, Holdhus, Rita, Stansberg, Christine, Stray-Pedersen, Asbjørg, Petersen, Kjell, Brunner, Han G, Gilissen, Christian, Hoischen, Alexander, Prescott, Trine, Steen, Vidar M, Fiskerstrand, Torunn
Publicado no Eur J Hum Genet (2015)

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Por Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.
Publicado em 2010

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

Por 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
Publicado no Am J Hum Genet (2015)

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Por Cnossen, Wybrich R., te Morsche, René H. M., Hoischen, Alexander, Gilissen, Christian, Chrispijn, Melissa, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Veltman, Joris A., Drenth, Joost P. H.
Publicado em 2014

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Por van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan
Publicado no Eur J Hum Genet (2016)

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Por van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan
Publicado no Eur J Hum Genet (2017)

Improved exome prioritization of disease genes through cross-species phenotype comparison

Por Robinson, Peter N., Köhler, Sebastian, Oellrich, Anika, Wang, Kai, Mungall, Christopher J., Lewis, Suzanna E., Washington, Nicole, Bauer, Sebastian, Seelow, Dominik, Krawitz, Peter, Gilissen, Christian, Haendel, Melissa, Smedley, Damian
Publicado em 2014

Cord Blood Mesenchymal Stem Cells Suppress DC-T Cell Proliferation via Prostaglandin B2

Por van den Berk, Lieke C.J., Jansen, Bas J.H., Snowden, Stuart, Siebers-Vermeulen, Kim G.C., Gilissen, Christian, Kögler, Gesine, Figdor, Carl G., Wheelock, Craig E., Torensma, Ruurd
Publicado em 2014

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Por Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E. L. M., Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A., Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel
Publicado no PLoS One (2014)

LRP5 variants may contribute to ADPKD

Por Cnossen, Wybrich R, te Morsche, René HM, Hoischen, Alexander, Gilissen, Christian, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Losekoot, Monique, Breuning, Martijn H, Peters, Dorien JM, Veltman, Joris A, Drenth, Joost PH
Publicado no Eur J Hum Genet (2016)

Novel genetic causes for cerebral visual impairment

Por Bosch, Daniëlle GM, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, de Vries, Bert BA
Publicado no Eur J Hum Genet (2016)

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

Por Spiegler, Stefanie, Kirchmaier, Bettina, Rath, Matthias, Korenke, G. Christoph, Tetzlaff, Fabian, van de Vorst, Maartje, Neveling, Kornelia, Acker-Palmer, Amparo, Kuss, Andreas W., Gilissen, Christian, Fischer, Andreas, Schulte-Merker, Stefan, Felbor, Ute
Publicado no Mol Syndromol (2016)