A benchmark of structural variation detection by long reads through a realistic simulated model
Dierckxsens, Nicolas, Li, Tong, Vermeesch, Joris R, Xie, Zhi
Published in Genome Biology (15.12.2021)
Published in Genome Biology (15.12.2021)
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Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing
Masset, Heleen, Ding, Jia, Dimitriadou, Eftychia, Debrock, Sophie, Tšuiko, Olga, Smits, Katrien, Peeraer, Karen, Voet, Thierry, Zamani Esteki, Masoud, Vermeesch, Joris R
Published in Nucleic acids research (24.06.2022)
Published in Nucleic acids research (24.06.2022)
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Mosaic Copy Number Variation in Human Neurons
McConnell, Michael J., Lindberg, Michael R., Brennend, Kristen J., Piper, Julia C., Voet, Thierry, Cowing-Zitron, Chris, Shumilina, Svetlana, Lasken, Roger S., Vermeesch, Joris R., Hall, Ira M., Gage, Fred H.
Published in Science (American Association for the Advancement of Science) (01.11.2013)
Published in Science (American Association for the Advancement of Science) (01.11.2013)
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Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation
Gadsbøll, Kasper, Petersen, Olav B., Gatinois, Vincent, Strange, Heather, Jacobsson, Bo, Wapner, Ronald, Vermeesch, Joris R., Vogel, Ida
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2020)
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2020)
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Molecular genetics of 22q11.2 deletion syndrome
Morrow, Bernice E., McDonald‐McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Davies, Robert W., Fiksinski, Ania M., Breetvelt, Elemi J., Williams, Nigel M., Hooper, Stephen R., Monfeuga, Thomas, Bassett, Anne S., Owen, Michael J., Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Cubells, Joseph F., Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W., Bearden, Carrie E., Vorstman, Jacob A. S.
Published in Nature Medicine (01.12.2020)
Published in Nature Medicine (01.12.2020)
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Chromosome instability is common in human cleavage-stage embryos
Vermeesch, Joris R, Vanneste, Evelyne, Voet, Thierry, Le Caignec, Cédric, Ampe, Michèle, Konings, Peter, Melotte, Cindy, Debrock, Sophie, Amyere, Mustapha, Vikkula, Miikka, Schuit, Frans, Fryns, Jean-Pierre, Verbeke, Geert, D'Hooghe, Thomas, Moreau, Yves
Published in Nature medicine (01.05.2009)
Published in Nature medicine (01.05.2009)
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Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Zamani Esteki, Masoud, Dimitriadou, Eftychia, Mateiu, Ligia, Melotte, Cindy, Van der Aa, Niels, Kumar, Parveen, Das, Rakhi, Theunis, Koen, Cheng, Jiqiu, Legius, Eric, Moreau, Yves, Debrock, Sophie, D’Hooghe, Thomas, Verdyck, Pieter, De Rycke, Martine, Sermon, Karen, Vermeesch, Joris R., Voet, Thierry
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara, Plunkett, Katie S., Pursley, Amber N., Kang, Sung-Hae L., Bi, Weimin, Lalani, Seema R., Bacino, Carlos A., Vast, Mala, Marks, Karen, Patton, Michael, Olofsson, Peter, Patel, Ankita, Veltman, Joris A., Cheung, Sau Wai, Shaw, Chad A., Vissers, Lisenka E.L.M., Vermeesch, Joris R., Lupski, James R., Stankiewicz, Paweł
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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The clinical relevance of intragenic NRXN1 deletions
Cosemans, Nele, Vandenhove, Laura, Vogels, Annick, Devriendt, Koenraad, Van Esch, Hilde, Van Buggenhout, Griet, Olivié, Hilde, de Ravel, Thomy, Ortibus, Els, Legius, Eric, Aerssens, Peter, Breckpot, Jeroen, R. Vermeesch, Joris, Shen, Sanbing, Fitzgerald, Jacqueline, Gallagher, Louise, Peeters, Hilde
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy
Destouni, Aspasia, Zamani Esteki, Masoud, Catteeuw, Maaike, Tšuiko, Olga, Dimitriadou, Eftychia, Smits, Katrien, Kurg, Ants, Salumets, Andres, Van Soom, Ann, Voet, Thierry, Vermeesch, Joris R
Published in Genome research (01.05.2016)
Published in Genome research (01.05.2016)
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Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells
Dastidar, Sumitava, Ardui, Simon, Singh, Kshitiz, Majumdar, Debanjana, Nair, Nisha, Fu, Yanfang, Reyon, Deepak, Samara, Ermira, Gerli, Mattia F M, Klein, Arnaud F, De Schrijver, Wito, Tipanee, Jaitip, Seneca, Sara, Tulalamba, Warut, Wang, Hui, Chai, Yoke Chin, In't Veld, Peter, Furling, Denis, Tedesco, Francesco Saverio, Vermeesch, Joris R, Joung, J Keith, Chuah, Marinee K, VandenDriessche, Thierry
Published in Nucleic acids research (19.09.2018)
Published in Nucleic acids research (19.09.2018)
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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Clodagh, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, Marshall, Christian R
Published in American Journal of Psychiatry (01.11.2017)
Published in American Journal of Psychiatry (01.11.2017)
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Mefford, Heather C, Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K, Crolla, John A, Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F, de Leeuw, Nicole, Reardon, William, Gimelli, Giorgio, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C, Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G, Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V, Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E, Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L, Tobias, Edward S, Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R, Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E, Antonarakis, Stylianos E, Chen, Caifu, Estivill, Xavier, Menten, Björn, Gribble, Susan, Schwartz, Charles E, Schwartz, Stuart, Sutcliffe, James S, Walsh, Tom, Knight, Samantha J.L, Sebat, Jonathan, Romano, Corrado, Veltman, Joris A, de Vries, Bert B.A, Vermeesch, Joris R, Barber, John C.K, Willatt, Lionel, Tassabehji, May, Eichler, Evan E
Published in The New England journal of medicine (16.10.2008)
Published in The New England journal of medicine (16.10.2008)
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Improved reference genome for the domestic horse increases assembly contiguity and composition
Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O′Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda F., Petersen, Jessica L., Finno, Carrie J., Bellone, Rebecca R., McCue, Molly E., Brooks, Samantha A., Bailey, Ernest, Orlando, Ludovic, Green, Richard E., Miller, Donald C., Antczak, Douglas F., MacLeod, James N.
Published in Communications biology (01.01.2018)
Published in Communications biology (01.01.2018)
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22q11.2 Low Copy Repeats Expanded in the Human Lineage
Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H, Vermeesch, Joris R
Published in Frontiers in genetics (15.07.2021)
Published in Frontiers in genetics (15.07.2021)
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