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• Molecular genetics of hypertrophic myocardiopathy .
• Functional characterization of CLCN1 mutations causing congenital myotonia .
• Molecular study of endothelial dysfunction in human cell models for diabetes and aging .
• Molecular characterization of the 22q11 .2 region by MLPA techniques and its correlation with micro- satellite genotyping and FISH .
• Pharmacogenetics and pharmacogenomics . • Autosomal recessive osteogenesis imperfecta . • Genomic diagnostic tools . Oligo-based microarrays, BCAs and SNPs . • Genomic, epigenetic and transcriptional study of tumours in polymalformative genetic syndromes . • Macrocephaly-Capillary Malformation . • Next Generation Sequencing as a new diagnostic tool in genetic síndromes . • Dravet Syndrome .
Most relevant scientific articles
• tenorio J, mansilla a, Valencia m, martínez-Glez V, romanelli V, arias p, castreJón n, poletta F, Guillén-naVarro e, GorDo G, mansilla e, García-santiaGo F, González-casaDo i, Vallespín e, palomares m, mori ma, santos-simarro F, García-miñaur s, FernánDez l, mena r, benito-sanz s, Del pozo a, silla Jc, ibañez K, lópez-GranaDos e, martín- truJillo a, montaner D, HeatH Ke, campos-barros a, Dopazo J, neVaDo J, monK D, ruiz-pérez Vl, lapunzina p. A New Overgrowth Syndrome is due to Mutations in RNF125 . Hum Mutat; 2014 Dec . 35(12):1436-41 . PMID: 25196541 Doi: 10 .1002/humu .22689
• court F, tayama c, romanelli V, martin-truJillo a, iGlesias-platas i, oKamura K, suGaHara n, simón c, moore H, Harness JV, KeirsteaD H, sancHez-mut JV, KaneKi e, lapunzina p, soeJima H, WaKe n, esteller m, oGata t, Hata K, naKabayasHi K, monK D. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment . Genome Res; 2014 Apr . 24(4):554-69 . PMID: 24402520 Doi: 10 .1101/gr .164913 .113
• eGGermann t, binDer G, briouDe F, maHer er, lapunzina p, cubellis mV, berGaDá i, praWitt D, beGemann m. CDKN1C mutations: two sides of the same coin . Trends Mol Med; 2014 Nov . 20(11):614-22 . PMID: 25262539 Doi: 10 .1016/j .molmed .2014 .09 .001
• yuen m, sanDaraDura sa, DoWlinG JJ, KostyuKoVa as, moroz n, quinlan KG, leHtoKari Vl, raVenscroFt G, toDD eJ, ceyHan-birsoy o, GoKHin Ds, maluenDa J, leK m, nolent F, pappas ct, noVaK sm, D’amico a, malFatti e, tHomas bp, Gabriel sb, Gupta n, Daly mJ, ilKoVsKi b, HouWelinG pJ, DaViDson ae, sWanson lc, broWnstein ca, Gupta Va, meDne l, sHannon p, martin n, bicK Dp, FlisberG a, HolmberG e, Van Den berGH p, lapunzina p, WaDDell lb, sloboDa DD, bertini e, cHitayat D, telFer Wr, laquerrière a, GreGorio cc, ottenHeiJm ca, bönnemann cG, pelin K, beGGs aH, HayasHi yK, romero nb, lainG nG, nisHino i, WallGren-pettersson c, melKi J, FoWler Vm, macartHur DG, nor- tH Kn, clarKe nF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy . J Clin Invest; 2014 Nov 3 . 124(11):4693-708 . PMID: 25250574 Doi: 10 .1172/JCI75199
• corton m, aVila-FernanDez a, Vallespín e, lópez-molina mi, almoGuera b, martín-GarriDo e, tatu sD, KHan mi, blanco-Kelly F, riVeiro-alVarez r, brión m, García-sanDoVal b, cremers Fp, carraceDo a, ayuso c. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population . Ophthalmology; 2014 Jan . 121(1):399-407 . PMID: 24144451 Doi: 10 .1016/j .ophtha .2013 .08 .028
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