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European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, et al.
Genes, Chromosomes & Cancer|July 15, 2010
Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutationsFlorence Nguyen-Khac, Claude Lesty, Virginie Eclache, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speechJulien Thevenon, Patrick Callier, Joris Andrieux, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
European Journal of Medical Genetics|June 10, 2009
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated casesCaroline Schluth-Bolard, Bruno Delobel, Damien Sanlaville, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
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