Malalties Genètiques

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy. J PEDIATR; 01. 204:305-313.e14. PMID: 30579468. DOI: 10.1016/j.jpeds.2018.10.043.

IF: 4,406

Alonso-Perez J., Gonzalez-Quereda L., Bello L., Guglieri M., Straub V., Gallano P., Semplicini C., Pegoraro E., Zangaro V., Nascimento A., Ortez C., Comi G.P., Dam L.T., De Visser M., van der Kooi A.J., Garrido C., Santos M., Schara U., Gangfuss A., Lokken N., Storgaard J.H., Vissing J., Schoser B., Dekomien G., Udd B., Palmio J., D'Amico A., Politano L., Nigro V., Bruno C., Panicucci C., Sarkozy A., Abdel-Mannan O., Alonso-Jimenez A., Claeys K.G., Gomez-Andres D., Munell F., Costa-Comellas L., Haberlova J., Rohlenova M., Elke V., De Bleecker J.L., Dominguez-Gonzalez C., Tasca G., Weiss C., Deconinck N., Fernandez-Torron R., Lopez de Munain A., Camacho-Salas A., Melegh B., Hadzsiev K., Leonardis L., Koritnik B., Garibaldi M., de Leon-Hernandez J.C., Malfatti E., Fraga-Bau A., Richard I., Illa I., Diaz-Manera J. (2020) New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. BRAIN, 143 (9), 2696-2708.

IF: 13,501

Bastos-Oreiro M., Muntanola A., Panizo C., Gonzalez-Barca E., de Villambrosia S.G., Cordoba R., Lopez J.L.B., Gonzalez-Sierra P., Terol M.J., Gutierrez A., Grande C., Ramirez M.J., Iserte L., Perez E., Navarro B., Gomez P., Salar A., Luzardo H., Lopez A., Del Campo R., Garcia-Belmonte D., Vida M.J., Infante M., Queizan-Hernandez J.A., Novelli S., Moreno M., Penarrubia M., Gomez J., Domingo A., Donato E., Viguria M.C., Lopez F., Rodriguez M.J., Pardal E., Noriega V., Andreu R., Penalver J., Martin A., Caballero D., Lopez-Guillermo A. (2020) RELINF: prospective epidemiological registry of lymphoid neoplasms in Spain. A project from the GELTAMO group. ANN HEMATOL, 99 (4), 799-808.

IF: 3,673

Beecroft SJ, Olive M, Quereda LG, Gallano P, Ojanguren I, McLean C, McCombe P, Laing NG, Ravenscroft G. Cylindrical spirals in two families: Clinical and genetic investigations. NEUROMUSCULAR DISORD. 2020 Feb;30(2):151-158. DOI: 10.1016/j.nmd.2019.12.006. Epub 2019 Dec 25. PMID: 31952901.

IF: 4,296

Bobadilla-Quesada E.J., Natera-de Benito D., Carrera-Garcia L., Ortez C., Exposito-Escudero J., Jimenez-Mallebrera C., Jou C., Codina A., Corbera J., Moya O., Saez V., Gonzalez-Quereda L., Gallano P., Colomer J., Cuadras D., Medina J., Yoldi M.E., Nascimento A. (2020) Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome. NEUROMUSCULAR DISORD, 30 (9), 719-726.

IF: 4,296

Bogliolo M., Pujol R., Aza-Carmona M., Munoz-Subirana N., Rodriguez-Santiago B., Casado J.A., Rio P., Bauser C., Reina-Castillon J., Lopez-Sanchez M., Gonzalez-Quereda L., Gallano P., Catala A., Ruiz-Llobet A., Badell I., Diaz-Heredia C., Hladun R., Senent L., Argiles B., Bergua Burgues J.M., Banez F., Arrizabalaga B., Lopez Almaraz R., Lopez M., Figuera A., Molines A., Perez De Soto I., Hernando I., Munoz J.A., Del Rosario Marin M., Balmana J., Stjepanovic N., Carrasco E., Cuesta I., Cosuelo J.M., Regueiro A., Moraleda Jimenez J., Galera-Minarro A.M., Rosinol L., Carrio A., Belendez-Bieler C., Escudero Soto A., Cela E., De La Mata G., Fernandez-Delgado R., Garcia-Pardos M.C., Saez-Villaverde R., Barragano M., Portugal R., Lendinez F., Hernadez I., Vagace J.M., Tapia M., Nieto J., Garcia M., Gonzalez M., Vicho C., Galvez E., Valiente A., Antelo M.L., Ancliff P., Garcia F., Dopazo J., Sevilla J., Paprotka T., Perez-Jurado L.A., Bueren J., Surralles J. (2020) Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J MED GENET, 57 (4), 258-268.

IF: 6,318

Bogliolo M., Pujol R., Aza-Carmona M., Munoz-Subirana N., Rodriguez-Santiago B., Casado J.A., Rio P., Bauser C., Reina-Castillon J., Lopez-Sanchez M., Gonzalez-Quereda L., Gallano P., Catala A., Ruiz-Llobet A., Badell I., Diaz-Heredia C., Hladun R., Senent L., Argiles B., Bergua Burgues J.M., Banez F., Arrizabalaga B., Lopez Almaraz R., Lopez M., Figuera A., Molines A., Perez De Soto I., Hernando I., Munoz J.A., Del Rosario Marin M., Balmana J., Stjepanovic N., Carrasco E., Cuesta I., Cosuelo J.M., Regueiro A., Moraleda Jimenez J., Galera-Minarro A.M., Rosinol L., Carrio A., Belendez-Bieler C., Escudero Soto A., Cela E., De La Mata G., Fernandez-Delgado R., Garcia-Pardos M.C., Saez-Villaverde R., Barragano M., Portugal R., Lendinez F., Hernadez I., Vagace J.M., Tapia M., Nieto J., Garcia M., Gonzalez M., Vicho C., Galvez E., Valiente A., Antelo M.L., Ancliff P., Garcia F., Dopazo J., Sevilla J., Paprotka T., Perez-Jurado L.A., Bueren J., Surralles J. (2020) Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J MED GENET, 57 (4), 258-268.

IF: 6,318

Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P, Tizzano EF. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. NEUROL GENET. 2020 Nov 18;6(6):e530. DOI: 10.1212/NXG.0000000000000530. eCollection 2020 Dec. PMID: 33324756.

IF: 3,485

Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. GENES (BASEL). 2020 May 11;11(5):539. DOI: 10.3390/genes11050539.PMID: 32403337.

IF: 4,096

Hernandez I, Gelpi E, Molina-Porcel L, Bernal S, Rodríguez-Santiago B, Dols-Icardo O, Ruiz A, Alcolea D, Boada M, Lleó A, Clarimón J. Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes. NEUROPATHOL APPL NEUROBIOL. 2020 Oct 23. DOI: 10.1111/nan.12670. Online ahead of print. PMID: 33095930.

IF: 8,090

Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J MOL DIAGN. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30.PMID: 32619640.

IF: 5,568

Montanuy H, Martínez-Barriocanal A, Casado JA, Rovirosa L, Ramírez MJ, Nieto R, Carrascoso-Rubio C, Riera P, González A, Lerma E, Lasa A, Carreras-Puigvert J, Helleday T, Bueren J, Arango D, Minguillón J, Surrallés J. Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck càncer. CLIN CANCER RES 2020; 26(12):3044-3057.

IF: 12,531

Natera-de Benito D., Muchart J., Itzep D., Ortez C., Gonzalez-Quereda L., Gallano P., Ramirez A., Aparicio J., Dominguez-Carral J., Carrera-Garcia L., Exposito-Escudero J., Pardo Cardozo N., Cuadras D., Codina A., Jou C., Jimenez-Mallebrera C., Palau F., Colomer J., Arzimanoglou A., Nascimento A., San Antonio-Arce V. (2020) Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. EPILEPSIA, 61 (5), 971-983.

IF: 5,864

Páez D. Genetics and adverse events with irinotecan treatment: what do we know? PHARMACOGENOMICS; 04. 20(6):393-395. PMID: 31117929 DOI: 10.2217/pgs-2019-0012.

IF: 2,533

Ramos-Campoy O., Antonell A., Falgas N., Balasa M., Borrego-Ecija S., Rodriguez-Santiago B., Datta D., Armengol L., Fernandez-Villullas G., Bosch B., Olives J., Munoz-Garcia C., Castellvi M., Tort-Merino A., Sanchez-Valle R., Llado A. (2020) Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. NEUROBIOL AGING, 93 (), e1-e9.

IF: 4,673

Riera P., Artigas-Baleri A., Salazar J., Sebio A., Virgili A.C., Arranz M.J., Paez D. (2020) ABCB1 Genetic Variants as Predictors of Irinotecan-Induced Severe Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients. FRONT PHARMACOL, 11 (), -.

IF: 5,810

Riera P, Artigas A, Salazar J, Páez D. Comments on: “Clinical utility of ABCB1 genotyping for preventing toxicity in treatment with irinotecan”. PHARMACOL RES; 07. 145:104287. PMID: 31141715 DOI: 10.1016/j.phrs.2019.104287.

IF: 7,658

Riera P, Rodríguez-Santiago B, Lasa A,Gonzalez-Quereda L, Martín B, Salazar J, Sebio A, Virgili AC, Minguillón J, Camps C, Surrallés J, Páez D. Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients. CANCERS (BASEL). 2020 Aug 11;12(8):2245. DOI: 10.3390/cancers12082245.PMID: 32796636.

IF: 6,639

Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases. J GENET COUNS. 2020 Nov 3. DOI: 10.1002/jgc4.1354.

IF: 2,537

Santos C, Azuara D, Viéitez JM, Páez D, Falcó E, Élez E, López-López C, Valladares M, Robles-Díaz L, García-Alfonso P, Bugés C, Durán G,Salud A, Navarro V, Capellá G, Aranda E, Salazar R. Phase II study of high-sensitivity genotyping of KRAS, NRAS, BRAF and PIK3CA to ultra-select metastatic colorectal cancer patients for panitumumab plus FOLFIRI: the ULTRA trial. ANN ONCOL; 05. 30(5):796-803. PMID: 30840064 DOI: 10.1093/annonc/mdz082.

IF: 32,976

Segui F., Gonzalez-Quereda L., Sanchez A., Matas-Garcia A., Garrabou G., Rodriguez M.J., Gallano P., Grau J.M., Milisenda J.C. (2020) Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern. NEUROL SCI, 41 (10), 2967-2971.

IF: 3,307

Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, Chowen JA, Pérez-Jurado LA, Argente J. Heterozygous rare genetic variants in non-syndromic early-onset obesity. INT J OBESITY (LOND). 2020 Apr;44(4):830-841. doi: 10.1038/s41366-019-0357-5. Epub 2019 Mar 29. PMID: 30926952.

IF: 5,095

Serrano C, Vivancos A, López-Pousa A, Matito J, Mancuso FM, Valverde C, Quiroga S, Landolfi S, Castro S, Dopazo C, Sebio A, Virgili AC, Menso MM, Martín-Broto J, Sansó M, García-Valverde A, Rosell J, Fletcher JA, George S, Carles J, Arribas J. Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors. BMC CANCER. 2020 Feb 5;20(1):99. doi: 10.1186/s12885-020-6597-x. PMID: 32024476.

IF: 4,430

Topf A., Johnson K., Bates A., Phillips L., Chao K.R., England E.M., Laricchia K.M., Mullen T., Valkanas E., Xu L., Bertoli M., Blain A., Casasus A.B., Duff J., Mroczek M., Specht S., Lek M., Ensini M., MacArthur D.G., Akay E., Alonso-Perez J., Baets J., Barisic N., Bastian A., Borell S., Chamova T., Claeys K., Colomer J., Coppens S., Deconinck N., de Ridder W., Diaz-Manera J., Dominguez-Gonzalez C., Duncan A., Durmus H., Fahmy N.A., Farrugia M.E., Fernandez-Torron R., Gonzalez-Quereda L., Haberlova J., von der Hagen M., Hahn A., Jakovcevic A., JericoPascual I., Kapetanovic S., Kenina V., Kirschner J., Klein A., Kolbel H., Kostera-Pruszczyk A., Kulshrestha R., Lahdetie J., Layegh M., Longman C., Lopezde Munain A., Loscher W., Lusakowska A., Maddison P., Magot A., Majumdar A., Marti P., MartinezArroyo A., Mazanec R., Mercier S., Mongini T., Muelas N., Nascimento A., Nafissi S., Omidi S., Ortez C., Paquay S., Pereon Y., Peric S., Ponzalino V., Rakocevic Stojanovic V., Remiche G., RodriguezSainz A., Rudnik S., SanchezAlbisua I., Santos M., Schara U., Shatillo A., Sertic J., Stephani U., Strang-Karlsson S., Sznajer Y., Tanev A., Tournev I., Van den Bergh P., Van Parijs V., Vilchez J., Vill K., Vissing J., Wallgren-Pettersson C., Wanschitz J., Willis T., Witting N., Zulaica M., Straub V. (2020) Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. GENET MED, 22 (9), 1478-1488.

IF: 8,822

Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B,Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E. Further delineation of the phenotype caused by loss of function mutations in PRMT7. EUR J MED GENET; Mar. 62(3):182-185. PMID: 30006058.

IF: 2,708