​Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in a zebrafish model.

Antón-Galindo E, Adel M, García-Gonzalez J, Leggieri A, López-Blanch L, Irimia M, Norton WH, Brennan CH, Fernàndez-Castillo N, Cormand B.

bioRxiv. 2023 Feb 23:2023.02.23.529711. doi: 10.1101/2023.02.23.529711. Preprint.

PMID: 36865197 Free PMC article.

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Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.

Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, Farajzadeh L, Voloudakis G, Bendl J, Zeng B, Zhang W, Grove J, Als TD, Duan J, Satterstrom FK, Bybjerg-Grauholm J, Bækved-Hansen M, Gudmundsson OO, Magnusson SH, Baldursson G, Davidsdottir K, Haraldsdottir GS, Agerbo E, Hoffman GE, Dalsgaard S, Martin J, Ribasés M, Boomsma DI, Soler Artigas M, Roth Mota N, Howrigan D, Medland SE, Zayats T, Rajagopal VM; ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Daly MJ, Faraone SV, Stefansson H, Roussos P, Franke B, Werge T, Neale BM, Stefansson K, Børglum AD.

Nat Genet. 2023 Feb;55(2):198-208. doi: 10.1038/s41588-022-01285-8. Epub 2023 Jan 26.

PMID: 36702997

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The translational genetics of ADHD and related phenotypes in model organisms.

Cabana-Domínguez J, Antón-Galindo E, Fernàndez-Castillo N, Singgih EL, O'Leary A, Norton WH, Strekalova T, Schenck A, Reif A, Lesch KP, Slattery D, Cormand B.

Neurosci Biobehav Rev. 2023 Jan;144:104949. doi: 10.1016/j.neubiorev.2022.104949. Epub 2022 Nov 9.

PMID: 36368527 .

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The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

Sánchez-Bellver L, Férriz-Gordillo A, Carrillo-Pz M, Rabanal L, Garcia-Gonzalo FR, Marfany G.

Int J Mol Sci. 2022 Oct 19;23(20):12527. doi: 10.3390/ijms232012527.

PMID: 36293380 

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Somatic genetic variation in healthy tissue and non-cancer diseases.

Solís-Moruno M, Batlle-Masó L, Bonet N, Aróstegui JI, Casals F.

Eur J Hum Genet. 2023 Jan;31(1):48-54. doi: 10.1038/s41431-022-01213-8. Epub 2022 Oct 27.

PMID: 36289407 

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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R.

J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7.

PMID: 36243518

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CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.

García-Arroyo R, Marfany G, Mirra S.

Int J Mol Sci. 2022 Sep 30;23(19):11593. doi: 10.3390/ijms231911593.

PMID: 36232896 

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Assessing the digenic model in rare disorders using population sequencing data.

Moreno-Ruiz N; Genomics England Research Consortium; Lao O, Aróstegui JI, Laayouni H, Casals F.

Eur J Hum Genet. 2022 Dec;30(12):1439-1443. doi: 10.1038/s41431-022-01191-x. Epub 2022 Oct 3.

PMID: 36192439 

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Stroke genetics informs drug discovery and risk prediction across ancestries.

Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, He Y, Georgakis MK, Caro I, Krebs K, Liaw YC, Vaura FC, Lin K, Winsvold BS, Srinivasasainagendra V, Parodi L, Bae HJ, Chauhan G, Chong MR, Tomppo L, Akinyemi R, Roshchupkin GV, Habib N, Jee YH, Thomassen JQ, Abedi V, Cárcel-Márquez J, Nygaard M, Leonard HL, Yang C, Yonova-Doing E, Knol MJ, Lewis AJ, Judy RL, Ago T, Amouyel P, Armstrong ND, Bakker MK, Bartz TM, Bennett DA, Bis JC, Bordes C, Børte S, Cain A, Ridker PM, Cho K, Chen Z, Cruchaga C, Cole JW, de Jager PL, de Cid R, Endres M, Ferreira LE, Geerlings MI, Gasca NC, Gudnason V, Hata J, He J, Heath AK, Ho YL, Havulinna AS, Hopewell JC, Hyacinth HI, Inouye M, Jacob MA, Jeon CE, Jern C, Kamouchi M, Keene KL, Kitazono T, Kittner SJ, Konuma T, Kumar A, Lacaze P, Launer LJ, Lee KJ, Lepik K, Li J, Li L, Manichaikul A, Markus HS, Marston NA, Meitinger T, Mitchell BD, Montellano FA, Morisaki T, Mosley TH, Nalls MA, Nordestgaard BG, O'Donnell MJ, Okada Y, Onland-Moret NC, Ovbiagele B, Peters A, Psaty BM, Rich SS, Rosand J, Sabatine MS, Sacco RL, Saleheen D, Sandset EC, Salomaa V, Sargurupremraj M, Sasaki M, Satizabal CL, Schmidt CO, Shimizu A, Smith NL, Sloane KL, Sutoh Y, Sun YV, Tanno K, Tiedt S, Tatlisumak T, Torres-Aguila NP, Tiwari HK, Trégouët DA, Trompet S, Tuladhar AM, Tybjærg-Hansen A, van Vugt M, Vibo R, Verma SS, Wiggins KL, Wennberg P, Woo D, Wilson PWF, Xu H, Yang Q, Yoon K; COMPASS Consortium; INVENT Consortium; Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group; Estonian Biobank; PRECISE4Q Consortium; FinnGen Consortium; NINDS Stroke Genetics Network (SiGN); MEGASTROKE Consortium; SIREN Consortium; China Kadoorie Biobank Collaborative Group; VA Million Veteran Program; International Stroke Genetics Consortium (ISGC); Biobank Japan; CHARGE Consortium; GIGASTROKE Consortium; Millwood IY, Gieger C, Ninomiya T, Grabe HJ, Jukema JW, Rissanen IL, Strbian D, Kim YJ, Chen PH, Mayerhofer E, Howson JMM, Irvin MR, Adams H, Wassertheil-Smoller S, Christensen K, Ikram MA, Rundek T, Worrall BB, Lathrop GM, Riaz M, Simonsick EM, Kõrv J, França PHC, Zand R, Prasad K, Frikke-Schmidt R, de Leeuw FE, Liman T, Haeusler KG, Ruigrok YM, Heuschmann PU, Longstreth WT, Jung KJ, Bastarache L, Paré G, Damrauer SM, Chasman DI, Rotter JI, Anderson CD, Zwart JA, Niiranen TJ, Fornage M, Liaw YP, Seshadri S, Fernández-Cadenas I, Walters RG, Ruff CT, Owolabi MO, Huffman JE, Milani L, Kamatani Y, Dichgans M, Debette S.

Nature. 2022 Nov;611(7934):115-123. doi: 10.1038/s41586-022-05165-3. Epub 2022 Sep 30.

PMID: 36180795 

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Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups.

Mattheisen M, Grove J, Als TD, Martin J, Voloudakis G, Meier S, Demontis D, Bendl J, Walters R, Carey CE, Rosengren A, Strom NI, Hauberg ME, Zeng B, Hoffman G, Zhang W, Bybjerg-Grauholm J, Bækvad-Hansen M, Agerbo E, Cormand B, Nordentoft M, Werge T, Mors O, Hougaard DM, Buxbaum JD, Faraone SV, Franke B, Dalsgaard S, Mortensen PB, Robinson EB, Roussos P, Neale BM, Daly MJ, Børglum AD.

Nat Genet. 2022 Oct;54(10):1470-1478. doi: 10.1038/s41588-022-01171-3. Epub 2022 Sep 26.

PMID: 36163277

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Ubiquitin Specific Protease USP48 Destabilizes NF-κB/p65 in Retinal Pigment Epithelium Cells.

Mirra S, Sánchez-Bellver L, Casale C, Pescatore A, Marfany G.

Int J Mol Sci. 2022 Aug 26;23(17):9682. doi: 10.3390/ijms23179682.

PMID: 36077078 

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Differential expression of miR-1249-3p and miR-34b-5p between vulnerable and resilient phenotypes of cocaine addiction.

Domingo-Rodriguez L, Cabana-Domínguez J, Fernàndez-Castillo N, Cormand B, Martín-García E, Maldonado R.

Addict Biol. 2022 Sep;27(5):e13201. doi: 10.1111/adb.13201.

PMID: 36001423

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Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits.

O'Leary A, Fernàndez-Castillo N, Gan G, Yang Y, Yotova AY, Kranz TM, Grünewald L, Freudenberg F, Antón-Galindo E, Cabana-Domínguez J, Harneit A, Schweiger JI, Schwarz K, Ma R, Chen J, Schwarz E, Rietschel M, Tost H, Meyer-Lindenberg A, Pané-Farré CA, Kircher T, Hamm AO, Burguera D, Mota NR, Franke B, Schweiger S, Winter J, Heinz A, Erk S, Romanczuk-Seiferth N, Walter H, Ströhle A, Fehm L, Fydrich T, Lueken U, Weber H, Lang T, Gerlach AL, Nöthen MM, Alpers GW, Arolt V, Witt S, Richter J, Straube B, Cormand B, Slattery DA, Reif A.

Mol Psychiatry. 2022 Nov;27(11):4464-4473. doi: 10.1038/s41380-022-01722-4. Epub 2022 Aug 10.

PMID: 35948661 

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Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Tapiz I Reula AJ, Cochino AV, Martins AL, Angosto-Bazarra D, de Landazuri IO, Mensa-Vilaró A, Cabral M, Baroja-Mazo A, Baños MC, Lobato-Salinas Z, Fabregat V, Plaza S, Yagüe J, Casals F, Oliva B, Figueiredo AE, Pelegrín P, Aróstegui JI.

J Clin Immunol. 2022 Oct;42(7):1421-1432. doi: 10.1007/s10875-022-01298-2. Epub 2022 Jun 18.

PMID: 35716229 

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Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

Ovejero D, Garcia-Giralt N, Martínez-Gil N, Rabionet R, Balcells S, Grinberg D, Pérez-Jurado LA, Nogués X, Etxebarria-Forondad I.

Bone. 2022 Aug;161:116450. doi: 10.1016/j.bone.2022.116450. Epub 2022 May 24.

PMID: 35623613

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Altered retinal structure and function in Spinocerebellar ataxia type 3.

Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC.

Neurobiol Dis. 2022 Aug;170:105774. doi: 10.1016/j.nbd.2022.105774. Epub 2022 May 21.

PMID: 35605759

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Deficiency of the ywhaz gene, involved in neurodevelopmental disorders, alters brain activity and behaviour in zebrafish.

Antón-Galindo E, Dalla Vecchia E, Orlandi JG, Castro G, Gualda EJ, Young AMJ, Guasch-Piqueras M, Arenas C, Herrera-Úbeda C, Garcia-Fernàndez J, Aguado F, Loza-Alvarez P, Cormand B, Norton WHJ, Fernàndez-Castillo N.

Mol Psychiatry. 2022 Sep;27(9):3739-3748. doi: 10.1038/s41380-022-01577-9. Epub 2022 May 2.

PMID: 35501409

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Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

Martínez-Gil N, Ovejero D, Garcia-Giralt N, Bruque CD, Mellibovsky L, Nogués X, Rabionet R, Grinberg D, Balcells S.

JBMR Plus. 2022 Feb 18;6(4):e10602. doi: 10.1002/jbm4.10602. eCollection 2022 Apr.

PMID: 35434450 .

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miRNA signatures associated with vulnerability to food addiction in mice and humans.

García-Blanco A, Domingo-Rodriguez L, Cabana-Domínguez J, Fernández-Castillo N, Pineda-Cirera L, Mayneris-Perxachs J, Burokas A, Espinosa-Carrasco J, Arboleya S, Latorre J, Stanton C, Cormand B, Fernández-Real JM, Martín-García E, Maldonado R.

J Clin Invest. 2022 May 16;132(10):e156281. doi: 10.1172/JCI156281.

PMID: 35349487 .

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On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Martínez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet R, Grinberg D, Balcells S.

Bone Rep. 2022 Mar 15;16:101181. doi: 10.1016/j.bonr.2022.101181. eCollection 2022 Jun.

PMID: 35313637 .

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Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI, Sánchez A, Rodríguez-Revenga L, Corominas J, Rabionet R, Puig S, Madrigal I.

Orphanet J Rare Dis. 2022 Feb 19;17(1):60. doi: 10.1186/s13023-022-02213-z.

PMID: 35183220 

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Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.

Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P, Rabionet R.

Sci Rep. 2022 Jan 27;12(1):1448. doi: 10.1038/s41598-022-05480-9.

PMID: 35087123

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P.

Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4.

PMID: 35060122

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Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Garcia-Giralt N, Roca-Ayats N, Abril JF, Martinez-Gil N, Ovejero D, Castañeda S, Nogues X, Grinberg D, Balcells S, Rabionet R.

Genes (Basel). 2022 Jan 14;13(1):146. doi: 10.3390/genes13010146.

PMID: 35052486.

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Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention.

Fernàndez-Castillo N, Cabana-Domínguez J, Kappel DB, Torrico B, Weber H, Lesch KP, Lao O, Reif A, Cormand B.

Genes (Basel). 2021 Dec 30;13(1):93. doi: 10.3390/genes13010093.

PMID: 35052433.

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Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders.

Cabana-Domínguez J, Torrico B, Reif A, Fernàndez-Castillo N, Cormand B.

Transl Psychiatry. 2022 Jan 10;12(1):11. doi: 10.1038/s41398-021-01771-3.

PMID: 35013130

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Overexpression of CERKL Protects Retinal Pigment Epithelium Mitochondria from Oxidative Stress Effects.

García-Arroyo R, Gavaldà-Navarro A, Villarroya F, Marfany G, Mirra S.

Antioxidants (Basel). 2021 Dec 19;10(12):2018. doi: 10.3390/antiox10122018.

PMID: 34943121

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A forensic population database in El Salvador: 58 STRs and 94 SNPs.

Casals F, Rasal R, Anglada R, Tormo M, Bonet N, Rivas N, Vásquez P, Calafell F.

Forensic Sci Int Genet. 2022 Mar;57:102646. doi: 10.1016/j.fsigen.2021.102646. Epub 2021 Dec 1.

PMID: 34875492

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The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C, Tuson M, Apam-Garduño D, de Castro-Miró M, Tonda R, Trotta JR, Marfany G, Valero R, Cortés-González V, Gonzàlez-Duarte R.

Genes (Basel). 2021 Nov 19;12(11):1824. doi: 10.3390/genes12111824.

PMID: 34828430.

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First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Ionescu D, Peñín-Franch A, Mensa-Vilaró A, Castillo P, Hurtado-Navarro L, Molina-López C, Romero-Chala S, Plaza S, Fabregat V, Buján S, Marques J, Casals F, Yagüe J, Oliva B, Fernández-Pereira LM, Pelegrín P, Aróstegui JI.

Arthritis Rheumatol. 2022 Apr;74(4):692-699. doi: 10.1002/art.41999. Epub 2022 Feb 14.

PMID: 34672126

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Full-length isoform transcriptome of the developing human brain provides further insights into autism.

Chau KK, Zhang P, Urresti J, Amar M, Pramod AB, Chen J, Thomas A, Corominas R, Lin GN, Iakoucheva LM.

Cell Rep. 2021 Aug 31;36(9):109631. doi: 10.1016/j.celrep.2021.109631.

PMID: 34469739.

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Molecular genetics of cocaine use disorders in humans.

Fernàndez-Castillo N, Cabana-Domínguez J, Corominas R, Cormand B.

Mol Psychiatry. 2022 Jan;27(1):624-639. doi: 10.1038/s41380-021-01256-1. Epub 2021 Aug 27.

PMID: 34453125 

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Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures.

Ugartondo N, Martínez-Gil N, Esteve M, Garcia-Giralt N, Roca-Ayats N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet R, Grinberg D, Balcells S.

Int J Mol Sci. 2021 Jul 9;22(14):7395. doi: 10.3390/ijms22147395.

PMID: 34299011 

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Assessment of the gene mosaicism burden in blood and its implications for immune disorders.

Solís-Moruno M, Mensa-Vilaró A, Batlle-Masó L, Lobón I, Bonet N, Marquès-Bonet T, Aróstegui JI, Casals F.

Sci Rep. 2021 Jun 21;11(1):12940. doi: 10.1038/s41598-021-92381-y.

PMID: 34155260.

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CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.

Mirra S, García-Arroyo R, B Domènech E, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch R, Villarroya F, Marfany G.

Neurobiol Dis. 2021 Aug;156:105405. doi: 10.1016/j.nbd.2021.105405. Epub 2021 May 25.

PMID: 34048907

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On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.

Sánchez-Bellver L, Toulis V, Marfany G.

Front Cell Dev Biol. 2021 Mar 5;9:623734. doi: 10.3389/fcell.2021.623734. eCollection 2021.

PMID: 33748110 Free PMC article. Review.

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The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.

Aísa-Marín I, García-Arroyo R, Mirra S, Marfany G.

Int J Mol Sci. 2021 Feb 12;22(4):1855. doi: 10.3390/ijms22041855.

PMID: 33673358 Free PMC article. Review.

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Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

Susak H, Serra-Saurina L, Demidov G, Rabionet R, Domènech L, Bosio M, Muyas F, Estivill X, Escaramís G, Ossowski S.

PLoS Comput Biol. 2021 Feb 19;17(2):e1007784. doi: 10.1371/journal.pcbi.1007784. eCollection 2021 Feb.

PMID: 33606672 .

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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R.

Int J Mol Sci. 2021 Feb 4;22(4):1549. doi: 10.3390/ijms22041549.

PMID: 33557041 .

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Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).

Kuebler B, Aran B, Flores R, Pérez-Jurado LA, Veiga A, Corominas R, Cuscó I.

Stem Cell Res. 2020 Dec;49:102087. doi: 10.1016/j.scr.2020.102087. Epub 2020 Nov 16.

PMID: 33370870

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Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome.

Kuebler B, Aran B, Flores R, Pérez-Jurado LA, Veiga A, Cuscó I, Corominas R.

Stem Cell Res. 2020 Dec;49:102092. doi: 10.1016/j.scr.2020.102092. Epub 2020 Nov 19.

PMID: 33254092

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The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina.

Toulis V, García-Monclús S, de la Peña-Ramírez C, Arenas-Galnares R, Abril JF, Todi SV, Khan N, Garanto A, Costa MDC, Marfany G.

Cell Rep. 2020 Nov 10;33(6):108360. doi: 10.1016/j.celrep.2020.108360.

PMID: 33176149 .

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Genome-wide postnatal changes in immunity following fetal inflammatory response.

Costa D, Bonet N, Solé A, González de Aledo-Castillo JM, Sabidó E, Casals F, Rovira C, Nadal A, Marin JL, Cobo T, Castelo R.

FEBS J. 2021 Apr;288(7):2311-2331. doi: 10.1111/febs.15578. Epub 2020 Oct 24.

PMID: 33006196 Free PMC article.

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI.

J Clin Immunol. 2020 Oct;40(7):987-1000. doi: 10.1007/s10875-020-00794-7. Epub 2020 Jul 15.

PMID: 32671674 

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Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.

Alemany-Navarro M, Cruz R, Real E, Segalàs C, Bertolín S, Rabionet R, Carracedo Á, Menchón JM, Alonso P.

Transl Psychiatry. 2020 May 18;10(1):151. doi: 10.1038/s41398-020-0804-z.

PMID: 32424139 

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT.

Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7.

PMID: 32376980 

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Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.

Batlle-Masó L, Mensa-Vilaró A, Solís-Moruno M, Marquès-Bonet T, Arostegui JI, Casals F.

Eur J Med Genet. 2020 May;63(5):103920. doi: 10.1016/j.ejmg.2020.103920. Epub 2020 Mar 25.

PMID: 32222431

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A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM.

Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3.

PMID: 31685013.

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De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.

Wang W, Corominas R, Lin GN.

Front Genet. 2019 Apr 3;10:258. doi: 10.3389/fgene.2019.00258. eCollection 2019.

PMID: 31001316

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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI.

Sci Rep. 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2.

PMID: 30872671 .

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PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.

Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodríguez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, Hernandez-Guillamon M, Solé M, Delgado P, Bustamante A, García-Berrocoso T, Mendióroz M, Castellanos M, Serena J, Martí-Fàbregas J, Segura T, Serrano-Heras G, Obach V, Ribó M, Molina CA, Alvarez-Sabín J, Palomeras E, Freijo M, Font MA, Rosand J, Rost NS, Gallego-Fabrega C, Lee JM, Heitsch L, Ibanez L, Cruchaga C, Phuah CL, Lemmens R, Thijs V, Lindgren A, Maguire J, Rannikmae K, Sudlow CL, Jern C, Stanne TM, Lorentzen E, Muñoz-Narbona L, Dávalos A, López-Cancio E, Worrall BB, Woo D, Kittner SJ, Mitchell BD, Montaner J, Roquer J, Krupinski J, Estivill X, Rabionet R, Vives-Bauzá C, Fernández-Cadenas I, Jiménez-Conde J.

Circ Res. 2019 Jan 4;124(1):114-120. doi: 10.1161/CIRCRESAHA.118.313533.

PMID: 30582445 .

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Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A.

J Bone Miner Res. 2018 Dec;33(12):2091-2098. doi: 10.1002/jbmr.3580. Epub 2018 Sep 24.

PMID: 30184270