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www.ciberer.es

• G t e, G J, G l r, M a, G n e, s MJ, d a, F-
Most relevant óMezortosaalleGouerreroóPezarcosileciGaainzíazran
co Macías e, truJillo tiebas MJ, ayuso c, Pérez Pérez J. C9ORF72 hexanucleotide expansions
scientific of 20 22 repeats are associated with frontotemporal deterioration. Neurology. 2013 Jan

articles
22;80(4):366 70. PMID: 23284068. IF(2012): 8,249 5 Year Impact Factor (2012): 8,397
Q(2012) Q1 D1 (8:191). ISSN: 1526 632X.

• riVeiro alVarez r, lóPez Martínez Ma, zernant J, aGuirre laMban J, cantalaPiedra d, aVila Fernández
a, G a, l M Mi, G s b, b k F, c M, t s, F s
iMenezóPezolinaarcíaandoVallancoellyortonatuernándezan
José P, truJillo tiebas MJ, raMos c, allikMets r, ayuso c. Outcome of ABCA4 disease associated
alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish fa-

milies.Ophthalmology. 2013 Nov;120(11):2332 7 PMID: 23755871. IF(2012): 5,563 5 Year
Impact Factor (2012): 5,777 Q(2012) Q1 D1 (2:58).

• Manes G, Meunier i, aVila Fernández a, banFi s, le Meur G, zanlonGhi X, corton M, siMonelli F,
b P, l G, a i, M s s, z c, s Ja, W M, d h, d cM,
rabetabesseudoohandaideitzaheleberollFushaenens
allorGe d, de baere e, koenekooP rk, kohl s, creMers FP, hollyField JG, sénéchal a, hebrard M,
bocquet b, ayuso García c, haMel cP. Mutations in IMPG1 cause vitelliform macular dystro-
phies. Am J Hum Genet. 2013 Sep 5;93(3):571 8. doi: 10.1016/j.ajhg.2013.07.018. Epub
ó
2013 Aug 29. PMID: 23993198 IF(2012): 11,202 5 Year Impact Factor (2012): 12,512
Q(2012) Q1 D1 (7:161).

• cortn M, nishiGuchi kM, áVila Fernández a, nikoPoulos k, riVeiro alVarez r, tatu sd, ayuso c,

riVolta c. Exome sequencing of index patients with retinal dystrophies as a tool for molecular ó
diagnosis. PLoS One. 2013 Jun 14;8(6):e65574. PMid: 23940504 iF(2012): 3,730 5 year ó
i F (2012): 4,244 q(2012) q1 (7:56).
MPactactor
• corton M, tatu sd, aVila Fernández a, VallesPín e, taPias i, cantalaPiedra d, blanco kelly F, riVeiro éó

alVarez r, bernal s, García sandoVal b, baiGet M, ayuso c. High frequency of CRB1 mutations
as cause of Early Onset Retinal Dystrophies in the Spanish population. Orphanet J Rare
Dis. 2013 F 5;8:20 PMid: 23379534. iF(2012): 4,315 5 y i F (2012): 5,715
ebearMPactactor
q(2012) q1 (26:121).

22 scientific articles ( cumulative IF : 82.455 ) and 2 chapters in the book “Luces y sombras á
Highlights
en la investigacin mdica” and contribution to the development of two clinical guidelines:

• “Secuenciacin genmica en la prctica clínica. Documento de conclusiones”.

• “Proyecto de Orden por la que se concreta y actualiza la cartera común básica de Servicios
asistenciales del Sistema Nacional de Salud. Noviembre de 2013”.

12 funded projects (4 public projects, 6 private projects, 1 European project and 1 CIBERER

intramural ACCI project). During 2013 we applied to 6 competitive calls for funding research
projects:

• 2 obtained project: 1 “Sara Borrell” Contract and 1 “health research AES 2013” (PI13/00226).

• 4 resolution pending projects: 3 private and 1 of the Community of Madrid.

Participation in EyeTN Initial Training Network (ITN): European Commission

Marie Curie Initial Training Networks (ITN) (Call: FP7-PEOPLE-2012-ITN)

Participation in Phase II Multicenter EECC (No. EUDRACT: 2011-004349-42) in Fragile X Syn-
drome.
13
20
As a result of the research we have identified one new gene responsible for ER (in press) and 4 T
OR
new genotype-phenotype associations (ABHD12 (PMID: 24697911) and 3 to be published) and P
7 new diagnoses added (Lasik Corneal Dystrophy, methylmalonic aciduria, Charge Syndrome RE
L
and 4 biomarkers predictive of drug response : CYP2C9 , CYP2C19 , CYP2D6 and CES1).
A
NU
HR 3 hired CIBERER (1 and 2 postdoctoral laboratory technicians), 1 PhD student Rio Hortega N
(CM12/00013), 1 Sara Borrell (CD12/00676), 1 Technical Support Research (CA12/00296), 1 A
R /
Miguel Servet (CP12/03256) and a contract ISCIII intensified.
E
Participation in teaching activities for undergraduate (8 in Medicine School, Science and Nurs- ER
B
ing in UAM and 4 trainees), postgraduate (master classes at 17 and 2 trainees) and 11 post- CI

graduate courses. The U704 also has organized 7 National and International Meetings on
Translational Research and Personalized Medicine, Pharmacogenetics, Research and Thera- 77

pies in RD.