Page 73 - MemoriaER-Eng

www.ciberer.es

Most relevant • Pathways systematically associated to Hirschsprung’s disease. Fernández rM, bleda
M, luzón-toro b, García-alonso l, arnold s, sribudiani y, besMond c, lantieri F, doan
scientific
b, ceccherini i, lyonnet s, hoFstra rM, chakraVarti a, antiñolo G, doPazo J, borreGo s.
articles
Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187.

• DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and

BRCA2 ovarian carcinomas. kaMieniak MM, Muñoz-rePeto i, rico d, osorio a, urioste M,
G-d J, h s, r-d l, r y c t, c a, s r, G-
arcíaonasernandooblesíazaMónaJalazorlaáezarcía
bueno JM, doMinGo s, borreGo s, Palacios J, Van de Wiel Ma, ylstra b, benítez J, García
MJ. Br J Cancer. 2013 Apr 30;108(8):1732-42. doi: 10.1038/bjc.2013.141.

• Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus

in Hirschsprung disease. Jannot as, Pelet a, henrion-caude a, chaoui a, Masse-Morel

M, arnold s, sanlaVille d, ceccherini i, borreGo s, hoFstra rM, Munnich a, bondu-
rand n, chakraVarti a, clerGet-darPouX F, aMiel J, lyonnet s. PLoS One. 2013 May

6;8(5):e62519. doi: 10.1371/journal.pone.0062519.

• Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirs-
chsprung patients. l-t b, F rM, t a, a Jc, M-V-
uzónoroernándezorroGlosade Gustínéndezi
dal c, seGura di, antiñolo G, borreGo s. PLoS One. 2013;8(1):e54800. doi: 10.1371/
journal.pone.0054800. Epub 2013 Jan 23.

• Contributions of PHOX2B in the pathogenesis of Hirschsprung disease. F rM, ó
ernández
Mathieu y, luzn-toro b, núñez-torres r, González-Meneses a, antiñolo G, aMiel J, borre-
s. PLoS One. 2013;8(1):e54043. doi: 10.1371/journal.pone.0054043.
Go

The activity of our group in 2013 is reflected in 19 scientific publications, accumulat-
Highlights
ing an average impact factor of 3.24.

We have received competitive external research funding for 7 different projects,

(CTS-03687, PI10/01290, PI-0154/2010, PI11/02923, CTS-7447, CIVP16A1856, PI-

0105-2011), one of them belonging to the Intrasalud program. We highlight that two
of these grants are in collaboration with the CIBERER group of Dr. Dopazo. Also, our

group has been funded by “Acciones Cooperativas y Complementarias Intramurales

Raras” in collaboration with other CIBERER groups (Dra. Ayuso, Dr. Millán y Dr. Do-
pazo).

It is worth mentioning the agreement of Dr. Antiñolo as Scientific Director of “Acción

Multidisciplinar en Enfermedades Raras y Medicina Personalizada” funded by CDTI-
FEDER interconnecta (EXP000528 87/ITC-20111037).

In the context of international and national cooperative activities, our group has pub-

lished 2 articles in collaboration with the International Consortium of Hirschsprung

disease (HSCR), of which we are part together with Dr. Hofstra (Netherlands), Dr.
Lyonnet (France), Dr. Chakravarti (USA), Dr. Ceccherini (Italy) and Dr. Tam (Hong

Kong), as well as 4 publications with Dr. Benitez, Dr. Dopazo and Dr. Robledo.
13
20
In addition, we have demonstrated the utility of next-generation sequencing for the T
OR
diagnosis of genetically heterogeneous disorders such as Inherited Retinal Dystro- P
phies (IRD) and hereditary breast and ovarian cancer. The application of this ap- RE
L
proach has significantly increased the performance of the genetic diagnosis in our A
cohort. Besides, we are also implementing this tool for the diagnosis of Hirschsprung NU
N
Disease. Likewise, we are developing a method of whole genome amplification for A
R /
preimplantation genetic diagnosis.
E
ER
Finally, during the year 2013, we have contributed to the development of a database B
including all germline sequence variants in Spanish patients in collaboration with Dr. CI

Lapunzina, Dr. Tizzano, Dr. Millan, Dr. Carracedo and Dr. Ayuso.
73