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	Title	Authors / Editors	Date
unige:88999	Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko	2016
unige:34656	Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?	Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand	2012
unige:31209	Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus	Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine	2012
unige:5576	Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21	Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos	2009
unige:43968	NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects	Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; Alkuraya, Fowzan S; ... Maas, Richard L	2007
unige:8862	Schizophrenia and chromosomal deletions within 22q11.2	Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E.	1995

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