Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Nature Genetics2012Vol. 44(6), pp. 639–641
Citations Over TimeTop 1% of 2012 papers
David A. Koolen, Jamie M. Kramer, Kornelia Neveling, Willy M. Nillesen, Heather Moore-Barton, Frances Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugène T.P. Verwiel, Sarah Martens, Ton Feuth, Ernie M.H.F. Bongers, Petra de Vries, Hans Scheffer, Lisenka E.L.M. Vissers, Arjan P.M. de Brouwer, Han G. Brunner, Joris A. Veltman, Annette Schenck, Helger G. Yntema, Bert B.A. de Vries
Related Papers
- → Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B(2011)142 cited
- → Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms(2014)62 cited
- → De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability(2014)32 cited
- → Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay(2014)14 cited
- → Intellectual disability and dysmorphisms in a child with 14q32.31-q32.33 deletion: a case report(2021)