Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M
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Genome sequencing identifies major causes of severe intellectual disability
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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Cantú Syndrome Is Caused by Mutations in ABCC9
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Published in American journal of human genetics (08.06.2012)
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Published in European journal of human genetics : EJHG (01.07.2022)
Published in European journal of human genetics : EJHG (01.07.2022)
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
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Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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Speech and language deficits are central to SETBP1 haploinsufficiency disorder
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Published in European journal of human genetics : EJHG (01.08.2021)
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
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Published in American journal of human genetics (07.10.2011)
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Clinical delineation of SETBP1 haploinsufficiency disorder
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
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Published in American journal of human genetics (06.08.2015)
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
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Kumar, Raman, Corbett, Mark A, Van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef
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Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.
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Published in American journal of human genetics (04.04.2019)
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