Page 59 - MemoriaER-Eng

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and visits, real case studies could be analyzed and the data from these studies could be analyzed

with bioinformatic tools by means of the complementary knowledge of both parties.

Publications directly resulting from BIER activity besides those led by groups supported by the data fil-

tering and interpretation done by BIER:
íáá
á

• Garca-cazorla a, oyarzabal a, Fort J, robles c, casteJón e, ruiz-sala P, bodoy s, Merinero b, lóPez-sala a,
d J, n V, u M, a r, P M, r-P P. Two Novel Mutations in the BCKDK
oPazounesGartertuchalacínodríGuezoMbo
Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral í
ó
Deficit in two Pediatric Unrelated Patients. Hum. Mutat. 2014.

• de castro-Mir M, PoMares e, lorés-Motta l, tonda r, doPazo J, MarFany G, Gonzàlez-duarte r. Combined
genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PLoS ONE. 2014; 9(2):e88410.
é
• t F, G-s Mt, F-c X, n-s a, G-V J, c MJ, V e, J-
ortarcailVaerrerortèsaVarroastrearcíailloriaollidaliMénez
alMazn J, doPazo J, briones P, elPeleG o, ribes a. Exome sequencing identifies a new mutation in
SERAC1 in a patient with 3-methylglutaconic aciduria. Mol. Genet. Metab. 2013; 110: 73–77.

•
Gonzlez-del Pozo M, Mndez-Vidal c, santoyo-lóPez J, Vela-boza a, braVo-Gil n, rueda a, García-alonso
l, V-M c, d J, b s, a G. Whole-exome sequencing identifies novel
zquezarouschekoPazoorreGontiñolo
compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis
pigmentosa. Mol. Vis. 2013;19:2187-95.

•
Medina i, salaVert F, sanchez r, de Maria a, alonso r, escobar P, bleda M, doPazo J. Genome Maps, a
new generation genome browser.” Nucleic Acids Res. 2013; 41:W41-W46.

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