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• t c, h a, t b, b n, s M, M M, V e, a F,
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de Munnik s, nordGren a, Psoni s, reardon W, reVencu n, roscioli t, ruiterkaMP-VersteeG M,

santos h, schouMans J, schuurs-hoeiJMakers J, silenGo M, toledo l, Vendrell t, Van der burGt
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h, VeltMan J, Merla G, antonarakis s, hoischen a. MLL2 mutation detection in 86 patients
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involvement of DDC. World J Bio Psych. 14(7):516-27 (2013).

• seGura-PuiMedon M, borralleras c, Pérez-Jurado la, caMPuzano V. TFII-I regulates target
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In addition to maintain the productivity in our current areas of research, we have
Highlights
developed a novel Project addressed to unravel the contribution of novel inversions

of the human genome to germ-line and somatic disease, with a recent high impact
publication (AJHG, Mar 2014). Our group has obtained competitive funding for three

novel projects: the first one would allow us to consolidate this novel line of research
on inversions and human disease (FIS PI13/02481); the second one goes in depth

into the molecular mechanisms of autism (FIS PI13/00823); and the third one will
be addressed to develop novel drugs targeting specific aspect of the Williams-Beuren

syndrome phenotype (Innopharma).

We have presented several communications in international meetings (platform and
posters), obtaining the Henning Anderson award to the best communication at the

meeting of the European Society for Pediatric Endocrinology (ESPE, Milan, 09-2013).
We were also invited to deliver speeches in the Plenary Session of the Annual Meet-
13
ing of the European Cytogenetics Association (Dublin, 06-2013), the Congress of the 20
Asociacin Espaola de Gentica Humana (Madrid, 04-2013) (both on detectable T
OR
clonal mosaicism), and the Human Genome Variation Meeting (Seoul, 09-2013) (on P
inversions). Transference activities were mostly done through our spin-off qGenomics RE
L
which has developed and commercialized novel tools for genetic diagnosis, including A
NU
a NGS-based method for carrier detection of all relevant recessive disorders, ad- N
dressed to prospective parents and programs of gamete donation, as well as another A
R /
for integrative analysis and molecular characterization of newborns after positive E
detection in the neonatal screening programs.
ER
B
Respect to translational activities, we have reorganized mutidisciplinary clinics for CI

several rare diseases in the Hospital del Mar de Barcelona. The clinics have been ac-
credited by the Health Department of the Catalonian Government as Units of Clinical 137

Expertise (UEC) for genetic diseases affecting neurocognition.