Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Jayne Y Hehir-Kwa"'
Autor:
Hindrik HD Kerstens, Jayne Y Hehir-Kwa, Ellen van de Geer, Chris van Run, Shashi Badloe, Alex Janse, John Baker-Hernandez, Sam de Vos, Douwe van der Leest, Eugène TP Verwiel, Bastiaan BJ Tops, Patrick Kemmeren
Publikováno v:
BioMedInformatics, Vol 3, Iss 1, Pp 1-16 (2022)
The increase in speed, reliability, and cost-effectiveness of high-throughput sequencing has led to the widespread clinical application of genome (WGS), exome (WXS), and transcriptome analysis. WXS and RNA sequencing is now being implemented as the s
Externí odkaz:
https://doaj.org/article/7e0f70a6bdf94d63b74fb2d4b6687172
Autor:
Michael T Meister, Marian J A Groot Koerkamp, Terezinha deSouza, Willemijn B Breunis, Ewa Frazer‐Mendelewska, Mariël Brok, Jeff DeMartino, Freek Manders, Camilla Calandrini, Hinri H D Kerstens, Alex Janse, M Emmy M Dolman, Selma Eising, Karin P S Langenberg, Marc vanTuil, Rutger R G Knops, Sheila Terwisscha vanScheltinga, Laura S Hiemcke‐Jiwa, Uta Flucke, Johannes H M Merks, Max M vanNoesel, Bastiaan B J Tops, Jayne Y Hehir‐Kwa, Patrick Kemmeren, Jan J Molenaar, Marc van deWetering, Ruben vanBoxtel, Jarno Drost, Frank C P Holstege
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 10, Pp n/a-n/a (2022)
Abstract Rhabdomyosarcomas (RMS) are mesenchyme‐derived tumors and the most common childhood soft tissue sarcomas. Treatment is intense, with a nevertheless poor prognosis for high‐risk patients. Discovery of new therapies would benefit from addi
Externí odkaz:
https://doaj.org/article/bfe59c6efb18489cb65ad4d76f02464c
Autor:
Judith M. Boer, Uri Ilan, Aurélie Boeree, Karin P. S. Langenberg, Jan Koster, Marco J. Koudijs, Jayne Y. Hehir‐Kwa, Stefan Nierkens, Corinne Rossi, Jan J. Molenaar, Bianca F. Goemans, Monique L. denBoer, C. Michel Zwaan
Publikováno v:
HemaSphere, Vol 8, Iss 7, Pp n/a-n/a (2024)
Abstract Over the past 10 years, institutional and national molecular tumor boards have been implemented for relapsed or refractory pediatric cancer to prioritize targeted drugs for individualized treatment based on actionable oncogenic lesions, incl
Externí odkaz:
https://doaj.org/article/cc8777c8974245468114f51e19691ae4
Autor:
Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman
Publikováno v:
PLoS Computational Biology, Vol 6, Iss 4, p e1000752 (2010)
Copy number variants (CNVs) have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic
Externí odkaz:
https://doaj.org/article/b1e8eb218cdc4f14be97291e55b4e2e5
Autor:
Caleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, Bert B A de Vries, Joris A Veltman, Chris P Ponting
Publikováno v:
PLoS Genetics, Vol 5, Iss 6, p e1000531 (2009)
Rare copy number variants (CNVs) are frequently associated with common neurological disorders such as mental retardation (MR; learning disability), autism, and schizophrenia. CNV screening in clinical practice is limited because pathological CNVs can
Externí odkaz:
https://doaj.org/article/c718760a2b8d411d96b15c1d69e302b5
Autor:
Paul Milne, Helen J. Blair, Cornelia Eckert, Zoya Kingsbury, Matthew Collin, Anetta Ptasinska, Alex Elder, Roderick Skinner, Janine Stutterheim, Jennifer Becq, Elena Zerkalenkova, Constanze Bonifer, Denis M. Schewe, Peter N. Cockerill, N Martinez-Soria, Oskar A. Haas, Peter Carey, Katarzyna Szoltysek, Deepali Pal, Hesta McNeill, Claus Meyer, Maria Rosaria Imperato, James C. Mulloy, Mark Wunderlich, Catherine Cargo, Paul Evans, Sarah E. Fordham, Shan Lin, Pierre Cauchy, Y Shi, Simon Bailey, Salam A. Assi, Rolf Marschalek, Josef Vormoor, Olaf Heidenreich, A Komkov, Michael J. Thirman, Simon Bomken, Ricky Tirtakusuma, Sirintra Nakjang, Fotini Vogiatzi, James M. Allan, Lisa J. Russell, Jayne Y. Hehir-Kwa, Muzlifah Haniffa, Yulia Olshanskaya, Vasily V. Grinev, Christine J. Harrison, Venetia Bigley, Daniel Williamson, Alex Smith, Natalia Miakova
Publikováno v:
Blood. 140:1875-1890
The fusion gene MLL-AF4 defines a high-risk subtype of pro-B acute lymphoblastic leukaemia. However, relapse can be associated with a switch from acute lymphoblastic to acute myeloid leukaemia. Here we show that these myeloid relapses share oncogene
Autor:
Frank C. P. Holstege, Jarno Drost, Ruben van Boxtel, Marc van de Wetering, Jan J. Molenaar, Patrick Kemmeren, Jayne Y. Hehir-Kwa, Bastiaan B. J. Tops, Max M. van Noesel, Johannes H. M. Merks, Uta Flucke, Laura S. Hiemcke-Jiwa, Sheila Terwisscha van Scheltinga, Rutger R. G. Knops, Marc van Tuil, Karin P. S. Langenberg, Selma Eising, M. Emmy M. Dolman, Alex Janse, Hinri H. D. Kerstens, Camilla Calandrini, Freek Manders, Jeff DeMartino, Mariël Brok, Ewa Frazer-Mendelewska, Willemijn B. Breunis, Terezinha de Souza, Marian J. A. Groot Koerkamp, Michael T. Meister
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40d6c1a1dd7c26ccd4397c1f88597b5e
https://doi.org/10.15252/rc.2022721694
https://doi.org/10.15252/rc.2022721694
Autor:
Bruce Pike, Masaki Fukunaga, Erik G. Jönsson, Robin M. Murray, Abdel Abdellaoui, Christopher R.K. Ching, Simon E. Fisher, Henry Brodaty, James Rucker, Gary Donohoe, Robin Bülow, Greig I. de Zubicaray, Stefan Johansson, Katrin Amunts, Katharina Wittfeld, Arvid Lundervold, Vincent Frouin, Ida E Sønderby, Tetyana Zayats, Carlos Prieto, Vince D. Calhoun, Anders M. Dale, Hilleke E. Hulshoff Pol, Tomáš Paus, Lars Nyberg, David C. Glahn, Benedicto Crespo-Facorro, Nicholas B. Blackburn, Gunter Schumann, Thomas Espeseth, Lars T. Westlye, Loes M. Olde Loohuis, Dan J. Stein, Dorret I. Boomsma, Dennis van der Meer, Stefan Ehrlich, Stephanie Le Hellard, Elena Shumskaya, Tiago Reis Marques, Manon Bernard, Nicholas G. Martin, Jan Haavik, Rachel M. Brouwer, Simone Ciufolini, Marta Di Forti, Shareefa Dalvie, Perminder S. Sachdev, Oleksandr Frei, Emma Knowles, Samuel R. Mathias, Else Eising, Ingrid Agartz, Clara Moreau, Nicola J. Armstrong, Dennis van 't Ent, Norman Delanty, Christian K. Tamnes, Evangelos Vassos, Marianne Bernadette van den Bree, Christiane Jockwitz, Magnus O. Ulfarsson, Katie L. McMahon, Allan F. McRae, Thomas W. Mühleisen, Peter R. Schofield, Sarah E. Medland, Hreinn Stefansson, David Edmund Johannes Linden, Céline S. Reinbold, Sanjay M. Sisodiya, Wei Wen, Paul M. Thompson, Jouke-Jan Hottenga, Paola Dazzan, Kari Stefansson, Alexander Teumer, Eco J. C. de Geus, Per Hoffmann, Neda Jahanshad, Jingyu Liu, Joanne E. Curran, Juan M. Peralta, Laurena Holleran, Ana I. Silva, Asta Håberg, Thomas Gareau, Karen A. Mather, Srdjan Djurovic, Lachlan T. Strike, Anbupalam Thalamuthu, Hans J. Grabe, Ryota Hashimoto, Tormod Fladby, Manon H.J. Hillegers, Tobias Kaufmann, Masataka Kikuchi, Jan Egil Nordvik, Zdenka Pausova, Omar Gustafsson, Gianpiero L. Cavalleri, Margaret J. Wright, Nynke A. Groenewold, Wiepke Cahn, Astri J. Lundervold, Michael John Owen, Diana Tordesillas-Gutiérrez, Sven Cichon, Sonja M C de Zwarte, Torgeir Moberget, Vidar M. Steen, John Blangero, Derek W. Morris, Roel A. Ophoff, Derrek P. Hibar, Andrew J. Schork, Anouk den Braber, Jayne Y. Hehir-Kwa, G. Bragi Walters, Micael Andersson, Sigrid Botne Sando, Joanne L. Doherty, Aiden Corvin, Sébastien Jacquemont, Erin Burke Quinlan, John B.J. Kwok, Anne Uhlmann, David Ames, Jean Shin, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda
Publikováno v:
JAMA Psychiatry, 77(4), 420-430. American Medical Association
JAMA Psychiatry
JAMA psychiatry 77(4), 420 (2020). doi:10.1001/jamapsychiatry.2019.3779
Digital.CSIC. Repositorio Institucional del CSIC
instname
JAMA psychiatry 77(4), 420-430 (2020). doi:10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 4, pp. 420-430
van der Meer, D, Abdellaoui, A, Boomsma, D I, de Geus, E J C, den Braber, A, Hottenga, J-J, van 't Ent, D, Andreassen, O A & Writing Committee for the ENIGMA-CNV Working Group 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 420-430
van der Meer, D, Sønderby, I E, Kaufmann, T, Walters, G B, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, N J, Bernard, M, Blackburn, N B, Blangero, J, Boomsma, D I, Brodaty, H, Brouwer, R M, Bülow, R, Cahn, W, Calhoun, V D, Caspers, S, Cavalleri, G L, Ching, C R K, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, J E, Dalvie, S, Dazzan, P, de Geus, E J C, de Zubicaray, G I, de Zwarte, S M C, Delanty, N, den Braber, A, Desrivieres, S, di Forti, M, Doherty, J L, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, S E, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, D C, Grabe, H J, Groenewold, N A, Gústafsson, Ó, Haavik, J, Haberg, A K, Hashimoto, R, Hehir-Kwa, J Y, Hibar, D P, Hillegers, M H J, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, H E, Ikeda, M, Jacquemont, S B, Jahanshad, N, Jockwitz, C, Johansson, S, Jönsson, E G, Kikuchi, M, Knowles, E E M, Kwok, J B, le Hellard, S, Linden, D E J, Liu, J, Lundervold, A, Lundervold, A J, Martin, N G, Mather, K A, Mathias, S R, McMahon, K L, McRae, A F, Medland, S E, Moberget, T, Moreau, C, Morris, D W, Mühleisen, T W, Murray, R M, Nordvik, J E, Nyberg, L, Olde Loohuis, L M, Ophoff, R A, Owen, M J, Paus, T, Pausova, Z, Peralta, J M, Pike, B, Prieto, C, Quinlan, E B, Reinbold, C L S, Reis Marques, T, Rucker, J J H, Sachdev, P S, Sando, S B, Schofield, P R, Schork, A J, Schumann, G, Shin, J, Shumskaya, E, Silva, A I, Sisodiya, S M, Steen, V M, Stein, D J, Strike, L T, Tamnes, C K, Teumer, A, Thalamuthu, A, Tordesillas-Gutiérrez, D, Uhlmann, A, Úlfarsson, M Ö, van 't Ent, D, van den Bree, M B M, Vassos, E, Wen, W, Wittfeld, K, Wright, M J, Zayats, T, Dale, A M, Djurovic, S, Agartz, I, Westlye, L T, Stefánsson, H, Stefánsson, K R, Thompson, P M & Andreassen, O A 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry
JAMA psychiatry 77(4), 420 (2020). doi:10.1001/jamapsychiatry.2019.3779
Digital.CSIC. Repositorio Institucional del CSIC
instname
JAMA psychiatry 77(4), 420-430 (2020). doi:10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 4, pp. 420-430
van der Meer, D, Abdellaoui, A, Boomsma, D I, de Geus, E J C, den Braber, A, Hottenga, J-J, van 't Ent, D, Andreassen, O A & Writing Committee for the ENIGMA-CNV Working Group 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 420-430
van der Meer, D, Sønderby, I E, Kaufmann, T, Walters, G B, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, N J, Bernard, M, Blackburn, N B, Blangero, J, Boomsma, D I, Brodaty, H, Brouwer, R M, Bülow, R, Cahn, W, Calhoun, V D, Caspers, S, Cavalleri, G L, Ching, C R K, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, J E, Dalvie, S, Dazzan, P, de Geus, E J C, de Zubicaray, G I, de Zwarte, S M C, Delanty, N, den Braber, A, Desrivieres, S, di Forti, M, Doherty, J L, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, S E, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, D C, Grabe, H J, Groenewold, N A, Gústafsson, Ó, Haavik, J, Haberg, A K, Hashimoto, R, Hehir-Kwa, J Y, Hibar, D P, Hillegers, M H J, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, H E, Ikeda, M, Jacquemont, S B, Jahanshad, N, Jockwitz, C, Johansson, S, Jönsson, E G, Kikuchi, M, Knowles, E E M, Kwok, J B, le Hellard, S, Linden, D E J, Liu, J, Lundervold, A, Lundervold, A J, Martin, N G, Mather, K A, Mathias, S R, McMahon, K L, McRae, A F, Medland, S E, Moberget, T, Moreau, C, Morris, D W, Mühleisen, T W, Murray, R M, Nordvik, J E, Nyberg, L, Olde Loohuis, L M, Ophoff, R A, Owen, M J, Paus, T, Pausova, Z, Peralta, J M, Pike, B, Prieto, C, Quinlan, E B, Reinbold, C L S, Reis Marques, T, Rucker, J J H, Sachdev, P S, Sando, S B, Schofield, P R, Schork, A J, Schumann, G, Shin, J, Shumskaya, E, Silva, A I, Sisodiya, S M, Steen, V M, Stein, D J, Strike, L T, Tamnes, C K, Teumer, A, Thalamuthu, A, Tordesillas-Gutiérrez, D, Uhlmann, A, Úlfarsson, M Ö, van 't Ent, D, van den Bree, M B M, Vassos, E, Wen, W, Wittfeld, K, Wright, M J, Zayats, T, Dale, A M, Djurovic, S, Agartz, I, Westlye, L T, Stefánsson, H, Stefánsson, K R, Thompson, P M & Andreassen, O A 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
ENIGMA-CNV Working Group: van der Meer, Dennis; Sonderby, Ida E; Kaufmann, Tobias; Walters, G Bragi; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J; Bernard, Manon; Blackburn, Nicholas B; Blangero, John; Boomsm
Autor:
Alexandre Reymond, Borja Rodriguez-Herreros, Stefan Ehrlich, Tiago Reis Marques, Roberto Roiz-Santiañez, Barbara Franke, Henry Brodaty, Ryota Hashimoto, Tobias Kaufmann, Thomas Gareau, Gary Donohoe, Masataka Kikuchi, David Ames, Greig I. de Zubicaray, Vince D. Calhoun, Zdenka Pausova, Anouk den Braber, Laurena Holleran, Katharina Wittfeld, Roel A. Ophoff, G. Bragi Walters, Sandra Martin-Brevet, Karen A. Mather, Dan J. Stein, Costin Leu, Rachel M. Brouwer, Norman Delanty, Nicholas G. Martin, Arvid Lundervold, Jean Shin, Geneviève Richard, Dorret I. Boomsma, Gudrun A. Jonsdottir, Emma Knowles, Margie Wright, Magnus O. Ulfarsson, Yunpeng Wang, Thomas W. Mühleisen, Vincent Frouin, Andrew J. Schork, Peter R. Schofield, Michael Andersson, Katrin Amunts, Hans J. Grabe, Wei Wen, Manon Bernard, James Rucker, Anbu Thalamuthu, Hans-Richard Brattbak, Joanne E. Curran, Hidenaga Yamamori, Bruce Pike, Brenda W.J.H. Penninx, Derek W. Morris, Masaki Fukunaga, Aiden Corvin, René S. Kahn, John Blangero, Yuri Milaneschi, Nynke A. Groenewold, Mark McCormack, Allan F. McRae, Clara Moreau, Gunter Schumann, Robin M. Murray, Bogdan Draganski, Simone Ciufolini, Carlos Prieto, Diana Tordesillas-Gutiérrez, Astri J. Lundervold, Sinead Kelly, Simon E. Fisher, Erik G. Jönsson, Stefan Johansson, Neda Jahanshad, Elena Shumskaya, Christopher D. Whelan, Tomáš Paus, Evangelos Vassos, Tetyana Zayats, Sébastien Jacquemont, Benedicto Crespo-Facorro, Erin Burke Quinlan, Anja Vaskinn, Ingrid Agartz, Knut K. Kolskår, Robin Bülow, Alexander Teumer, Sven Cichon, Neeltje E.M. van Haren, Jayne Y. Hehir-Kwa, Anders M. Dale, Nhat Trung Doan, Stephanie Le Hellard, John B.J. Kwok, Lars Nyberg, Sigrid Botne Sando, Omar Gustafsson, Gianpiero L. Cavalleri, Andreas Heinz, Ida E Sønderby, Sonja M C de Zwarte, Hreinn Stefansson, Derrek P. Hibar, Daniel Quintana, Vidar M. Steen, Jouke-Jan Hottenga, Paola Dazzan, David C. Glahn, Shareefa Dalvie, Lars T. Westlye, Nicholas B. Blackburn, Loes M. Olde Loohuis, Kari Stefansson, Dennis van der Meer, Lianne Schmaal, Anne Uhlmann, Nicola J. Armstrong, Stacy Steinberg, Christiane Jockwitz, Jarek Rokicki, Hilleke E Hulshoff, Sanjay M. Sisodiya, Anne-Marthe Sanders, Jan Haavik, Perminder S. Sachdev, Asta Håberg, Samuel R. Mathias, Dennis van 't Ent, Torill Ueland, Per Hoffmann, Terry L. Jernigan, Abdel Abdellaoui, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda, Paul M. Thompson, Eco J. C. de Geus, Céline S. Reinbold, Jingyu Liu, Juan M. Peralta, Sara Pudas, Jan Egil Nordvik, Srdjan Djurovic, David Mothersill, Lachlan T. Strike, Chi-Hua Chen, Jessica A. Turner, Manon H.J. Hillegers, Thomas Espeseth, Janita Bralten, Katie L. McMahon
Publikováno v:
Molecular Psychiatry
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Publisher's version (útgefin grein)
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizop
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizop
Autor:
Jayne Y. Hehir-Kwa, Marco J. Koudijs, Eugene T. P. Verwiel, Lennart A. Kester, Marc van Tuil, Eric Strengman, Arjan Buijs, Mariëtte E. G. Kranendonk, Laura S. Hiemcke-Jiwa, Valerie de Haas, Ellen van de Geer, Wendy de Leng, Jasper van der Lugt, Philip Lijnzaad, Frank C. P. Holstege, Patrick Kemmeren, Bastiaan B. J. Tops
Publikováno v:
JCO precision oncology. 6
PURPOSE Gene fusions play a significant role in cancer etiology, making their detection crucial for accurate diagnosis, prognosis, and determining therapeutic targets. Current diagnostic methods largely focus on either targeted or low-resolution geno