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Most relevant • Verdin h, d’haene b, beysen d, noVikoVa y, Menten b, sante t, laPunzina P, neVado J, carValho cM, luPski
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scientific
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aParrósartínaPunzinaeMtaMyGlanabelyseloerbereikinarcía
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• caParrs-Martín Ja, Valencia M, reytor e, Pacheco M, Fernández M, Perez-aytes a, Gean e, laPunzina í

P, Peters h, GoodshiP Ja, ruiz-Perez Vl. The ciliary Evc/Evc2 complex interacts with Smo and
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• VallesPn e, PaloMares bralo M, Mori Má, Martín r, García-Miñaúr s, Fernández l, de torres Ml,
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A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960.

From 2011 to 2013 we have contributed with 97 publications (Mean Impact Fac-
Highlights
tor: 4.5). We can highlight articles in journals like Nat Genet, contributions in Am

J Hum Genet as first authors and senior and Plos Genetics, J Med Genet, Plos One,
Brain, J Biol Chem, Hum Genet, Hum Mut, Hum Mol Genet etc. We have described

a new disease (deletion 8q21), we found 3 new genes (OSX, BMP1 and PLOD2
associated with osteogenesis imperfecta) in collaboration with U760.

From the point of view of technological milestones we have developed genomic te-

chnologies, both arrays and NGS platforms, in a structure and unparalleled service
in the Spanish hospitals. We have also created the first section of Bionformatics

located in a hospital in Madrid, where we hired 3 bioinformatics.

INGEMM has developed, designed and recorded 7 new products with European and
U.S. registered mark and managed to market and distribute 2 of them.

We achieved 20 competitive research projects, mainly from public agencies (Mi-

nistries/FIS) and some Europeans and Americans, and participated in 2 clinical
studies (one national and one international) on RD. We have requested through 13
20
CIBERER 7 research projects and to date achieved 3 while we requested 2 projects T
ACCI and got 1.
OR
P
We have initiated new interdisciplinary clinics, increased the supply of the services RE
L
portfolio and increased our participation in cooperation and outreach with patients.
A
NU
INGEMM has 11 sections and has a large number of patients and samples from pa- N
tients with rare genetic diseases. We are a group of biomedical research to patient, A
R /
with high translational component. We can develop own research of molecular and/ E
or biological lines and contribute to all groups CIBER providing clinical, cytogenetic ER
B
and molecular genetic diseases experience.
CI

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