Research

Human Molecular Genetics I

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Publications

  • Steyn A, Crowther NJ, Norris SA, Rabionet-Janssen R, Estivill X and Ramsay M.

    Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.

    EPIGENOMICS . 11(12): 1371-1385. Number of citations: 16

    [doi:10.2217/epi-2018-0206]

  • Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernandez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B and Toma C.

    Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.

    JOURNAL OF PSYCHIATRY & NEUROSCIENCE . 44(5): 350-359. Number of citations: 17

    [doi:10.1503/jpn.180184]

  • Cabana-Domínguez J, Shivalikanjli A, Fernandez-Castillo N and Cormand B.

    Genome-wide association meta-analysis of cocaine dependence: Shared genetics with comorbid conditions

    PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY . 94: 109667-109667. Number of citations: 39

    [doi:10.1016/j.pnpbp.2019.109667]

  • Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H and Care4Rare Canada Consortium and the SYNaPS Study Group.

    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    ANNALS OF NEUROLOGY . 86(2): 225-240. Number of citations: 65

    [doi:10.1002/ana.25524]

  • Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Medland SE, Ripke S, Yao S, Giusti-Rodríguez P, Anorexia Nervosa Genetics Initiative, Hanscombe KB, Purves KL, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Baker JH, Berrettini WH, Boehm I, Boni C, Perica VB, 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, Mayora MG, 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, Kaprio J, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Kim YR, Klareskog L, 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, Munn-Chernoff MA, 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 JE, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Stuber GD, Gordon S, Grove J, Henders AK, Juréus A, Kirk KM, Larsen JT, Parker R, Petersen L, Jordan J, Kennedy M, Montgomery GW, Wade TD, Birgegård A, Lichtenstein P, Norring C, Landén M, Martin NG, Mortensen PB, Sullivan PF, Breen G and Bulik CM.

    Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

    NATURE GENETICS . 51(8): 1207-1214. Number of citations: 538

    [doi:10.1038/s41588-019-0439-2]

  • Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet-Janssen R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X and Ossowski S.

    eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

    HUMAN MUTATION . 40(7): 865-878. Number of citations: 15

    [doi:10.1002/humu.23772]

  • Roca N, Martinez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

    Bone . 123: 39-47. Number of citations: 10

    [doi:10.1016/j.bone.2019.03.014]

  • Madrigal I, Rabionet-Janssen R, Alvarez-Mora MI, Sanchez A, Rodríguez-Revenga L, Estivill X and Mila M.

    Spectrum of clinical heterogeneity of beta-tubulin TUBB5 gene mutations

    Gene . 695: 12-17. Number of citations: 10

    [doi:10.1016/j.gene.2019.02.002]

  • Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Deciphering Developmental Disorders Study, SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS and Houlden H.

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

    AMERICAN JOURNAL OF HUMAN GENETICS . 104(4): 721-730. Number of citations: 79

    [doi:10.1016/j.ajhg.2019.02.016]

  • Rabionet-Janssen R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Anton-Lopez J, Iglesias-Jimenez E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe-Ribes J, Merino R, Estivill X and Arostegui-Gorospe JI.

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

    SCIENTIFIC REPORTS . 9: 4579-4579. Number of citations: 20

    [doi:10.1038/s41598-019-40874-2]