Search publications

Publications

  • Martinez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

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

    Bone Reports . 16: 101181-101181. Number of citations: 5

    [doi:10.1016/j.bonr.2022.101181]

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

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

    CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 8

    [doi:10.1111/cge.14113]

  • 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 and Rabionet-Janssen R.

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

    SCIENTIFIC REPORTS . 12(1): 1448-1448. Number of citations: 18

    [doi:10.1038/s41598-022-05480-9]

  • Garcia-Giralt N, Roca N, Abril JF, Martinez-Gil N, Ovejero D, Castañeda S, Nogues X, Grinberg-Vaisman DR, Balcells S and Rabionet-Janssen R.

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

    GENES . 13(1): . Number of citations: 6

    [doi:10.3390/genes13010146]

  • Mohr S, Fritz N, Hammer C, Martínez C, Berens S, Schmitteckert S, Wahl V, Schmidt M, Houghton LA, Goebel-Stengel M, Kabisch M, Götze D, Milovac I, D'Amato M, Zheng T, Röth R, Mönnikes H, Engel F, Gauss A, Tesarz J, Raithel M, Andresen V, Frieling T, Keller J, Pehl C, Stein-Thöringer C, Clarke G, Kennedy PJ, Cryan JF, Dinan TG, Quigley EMM, Spiller R, Beltrán C, Madrid AM, Torres V, Pérez de Arce E, Herzog W, Mayer EA, Sayuk G, Gazouli M, Karamanolis G, Kapur-Pojskic L, Bustamante M, Rabionet-Janssen R, Estivil X, Franke A, Lieb W, Boeckxstaens G, Wouters MM, Simrén M, Rappold GA, Vicario M, Santos J, Schaefert R, Lorenzo-Bermejo J and Niesler B.

    The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

    Journal Of Cellular And Molecular Medicine . 25(16): 8047-8061. Number of citations: 4

    [doi:10.1111/jcmm.16736]

  • Ugartondo N, Martinez-Gil N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

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

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): 7395. Number of citations: 9

    [doi:10.3390/ijms22147395]

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

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

    PLOS COMPUTATIONAL BIOLOGY . 17(2): . Number of citations: 6

    [doi:10.1371/journal.pcbi.1007784]

  • Munn-Chernoff MA, Johnson EC, Chou YL, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Ripke S, Yao S, Giusti-Rodríguez P, Hanscombe KB, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Berrettini WH, Boehm I, Boni C, Boraska Perica V, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Gratacos Mayora M, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Julià A, Kalsi G, Kaminská D, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Kim YR, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Levitan RD, Li D, Lilenfeld L, Lin BD, Lissowska J, Luykx J, Magistretti PJ, Maj M, Mannik K, Marsal S, Marshall CR, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone AM, Monteleone P, Nacmias B, Navratilova M, Ntalla I, O'Toole JK, Ophoff RA, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet-Janssen R, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer SW, Schmidt U, Schork NJ, Schosser A, Seitz J, Slachtova L, Slagboom PE, Slof-Op't Landt MCT, Slopien A, Sorbi S, Swiatkowska B, Szatkiewicz JP, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg AA, van Furth EF, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen AW, Boden JM, Brandt H, Crawford S, Halmi KA, Horwood LJ, Johnson C, Kaplan AS, Kaye WH, Mitchell J, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Grove J, Henders AK, Larsen JT, Parker R, Petersen LV, Jordan J, Kennedy MA, Birgegård A, Lichtenstein P, Norring C, Landén M, Mortensen PB, Polimanti R, McClintick JN, Adkins AE, Aliev F, Bacanu SA, Batzler A, Bertelsen S, Biernacka JM, Bigdeli TB, Chen LS, Clarke TK, Degenhardt F, Docherty AR, Edwards AC, Foo JC, Fox L, Frank J, Hack LM, Hartmann AM, Hartz SM, Heilmann-Heimbach S, Hodgkinson C, Hoffmann P, Hottenga JJ, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher BS, Mbarek H, McIntosh AM, McQueen MB, Meyers JL, Milaneschi Y, Palviainen T, Peterson RE, Ryu E, Saccone NL, Salvatore JE, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang JC, Webb BT, Wedow R, Wetherill L, Wills AG, Zhou H, Boardman JD, Chen D, Choi DS, Copeland WE, Culverhouse RC, Dahmen N, Degenhardt L, Domingue BW, Frye MA, Gäbel W, Hayward C, Ising M, Keyes M, Kiefer F, Koller G, Kramer J, Kuperman S, Lucae S, Lynskey MT, Maier W, Mann K, Männistö S, Müller-Myhsok B, Murray AD, Nurnberger JI, Preuss U, Räikkönen K, Reynolds MD, Ridinger M, Scherbaum N, Schuckit MA, Soyka M, Treutlein J, Witt SH, Wodarz N, Zill P, Adkins DE, Boomsma DI, Bierut LJ, Brown SA, Bucholz KK, Costello EJ, de Wit H, Diazgranados N, Eriksson JG, Farrer LA, Foroud TM, Gillespie NA, Goate AM, Goldman D, Grucza RA, Hancock DB, Harris KM, Hesselbrock V, Hewitt JK, Hopfer CJ, Iacono WG, Johnson EO, Karpyak VM, Kendler KS, Kranzler HR, Krauter K, Lind PA, McGue M, MacKillop J, Madden PAF, Maes HH, Magnusson PKE, Nelson EC, Nöthen MM, Palmer AA, Penninx BWJH, Porjesz B, Rice JP, Rietschel M, Riley BP, Rose RJ, Shen PH, Silberg J, Stallings MC, Tarter RE, Vanyukov MM, Vrieze S, Wall TL, Whitfield JB, Zhao H, Neale BM, Wade TD, Heath AC, Montgomery GW, Martin NG, Sullivan PF, Kaprio J, Breen G, Gelernter J, Edenberg HJ, Bulik CM and Agrawal A.

    Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

    ADDICTION BIOLOGY . 26(1): 12880. Number of citations: 30

    [doi:10.1111/adb.12880]

  • Martín-Nalda A, Fortuny-Guasch 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-Otero M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet-Janssen R, Martin-Begue N, Rudilla F, Yagüe-Ribes J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente-Villa MA and Arostegui-Gorospe JI.

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

    JOURNAL OF CLINICAL IMMUNOLOGY . 40(7): 987-1000. Number of citations: 37

    [doi:10.1007/s10875-020-00794-7]

  • Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet-Janssen 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-Vaisman DR, Amiel J, Urreizti R and Gordon CT.

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

    GENETICS IN MEDICINE . 22(7): 1215-1226. Number of citations: 21

    [doi:10.1038/s41436-020-0792-7]