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Items: 1 to 50 of 617

1.

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.

Couto Alves A, De Silva NMG, Karhunen V, Sovio U, Das S, Taal HR, Warrington NM, Lewin AM, Kaakinen M, Cousminer DL, Thiering E, Timpson NJ, Bond TA, Lowry E, Brown CD, Estivill X, Lindi V, Bradfield JP, Geller F, Speed D, Coin LJM, Loh M, Barton SJ, Beilin LJ, Bisgaard H, Bønnelykke K, Alili R, Hatoum IJ, Schramm K, Cartwright R, Charles MA, Salerno V, Clément K, Claringbould AAJ; BIOS Consortium, van Duijn CM, Moltchanova E, Eriksson JG, Elks C, Feenstra B, Flexeder C, Franks S, Frayling TM, Freathy RM, Elliott P, Widén E, Hakonarson H, Hattersley AT, Rodriguez A, Banterle M, Heinrich J, Heude B, Holloway JW, Hofman A, Hyppönen E, Inskip H, Kaplan LM, Hedman AK, Läärä E, Prokisch H, Grallert H, Lakka TA, Lawlor DA, Melbye M, Ahluwalia TS, Marinelli M, Millwood IY, Palmer LJ, Pennell CE, Perry JR, Ring SM, Savolainen MJ, Rivadeneira F, Standl M, Sunyer J, Tiesler CMT, Uitterlinden AG, Schierding W, O'Sullivan JM, Prokopenko I, Herzig KH, Smith GD, O'Reilly P, Felix JF, Buxton JL, Blakemore AIF, Ong KK, Jaddoe VWV, Grant SFA, Sebert S, McCarthy MI, Järvelin MR; Early Growth Genetics (EGG) Consortium.

Sci Adv. 2019 Sep 4;5(9):eaaw3095. doi: 10.1126/sciadv.aaw3095. eCollection 2019 Sep.

2.

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

Steyn A, Crowther NJ, Norris SA, Rabionet R, Estivill X, Ramsay M.

Epigenomics. 2019 Sep;11(12):1371-1385. doi: 10.2217/epi-2018-0206. Epub 2019 Oct 4.

3.

Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome.

Bustamante M, Hernandez-Ferrer C, Tewari A, Sarria Y, Harrison GI, Puigdecanet E, Nonell L, Kang W, Friedländer MR, Estivill X, González JR, Nieuwenhuijsen M, Young AR.

Br J Dermatol. 2019 Sep 16. doi: 10.1111/bjd.18527. [Epub ahead of print]

PMID:
31529490
4.

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

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 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, Świątkowska 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, Bulik CM.

Nat Genet. 2019 Aug;51(8):1207-1214. doi: 10.1038/s41588-019-0439-2. Epub 2019 Jul 15.

PMID:
31308545
5.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, Bacelis J, Peng S, Hao K, Feenstra B, Wood AR, Mahajan A, Tyrrell J, Robertson NR, Rayner NW, Qiao Z, Moen GH, Vaudel M, Marsit CJ, Chen J, Nodzenski M, Schnurr TM, Zafarmand MH, Bradfield JP, Grarup N, Kooijman MN, Li-Gao R, Geller F, Ahluwalia TS, Paternoster L, Rueedi R, Huikari V, Hottenga JJ, Lyytikäinen LP, Cavadino A, Metrustry S, Cousminer DL, Wu Y, Thiering E, Wang CA, Have CT, Vilor-Tejedor N, Joshi PK, Painter JN, Ntalla I, Myhre R, Pitkänen N, van Leeuwen EM, Joro R, Lagou V, Richmond RC, Espinosa A, Barton SJ, Inskip HM, Holloway JW, Santa-Marina L, Estivill X, Ang W, Marsh JA, Reichetzeder C, Marullo L, Hocher B, Lunetta KL, Murabito JM, Relton CL, Kogevinas M, Chatzi L, Allard C, Bouchard L, Hivert MF, Zhang G, Muglia LJ, Heikkinen J; EGG Consortium, Morgen CS, van Kampen AHC, van Schaik BDC, Mentch FD, Langenberg C, Luan J, Scott RA, Zhao JH, Hemani G, Ring SM, Bennett AJ, Gaulton KJ, Fernandez-Tajes J, van Zuydam NR, Medina-Gomez C, de Haan HG, Rosendaal FR, Kutalik Z, Marques-Vidal P, Das S, Willemsen G, Mbarek H, Müller-Nurasyid M, Standl M, Appel EVR, Fonvig CE, Trier C, van Beijsterveldt CEM, Murcia M, Bustamante M, Bonas-Guarch S, Hougaard DM, Mercader JM, Linneberg A, Schraut KE, Lind PA, Medland SE, Shields BM, Knight BA, Chai JF, Panoutsopoulou K, Bartels M, Sánchez F, Stokholm J, Torrents D, Vinding RK, Willems SM, Atalay M, Chawes BL, Kovacs P, Prokopenko I, Tuke MA, Yaghootkar H, Ruth KS, Jones SE, Loh PR, Murray A, Weedon MN, Tönjes A, Stumvoll M, Michaelsen KF, Eloranta AM, Lakka TA, van Duijn CM, Kiess W, Körner A, Niinikoski H, Pahkala K, Raitakari OT, Jacobsson B, Zeggini E, Dedoussis GV, Teo YY, Saw SM, Montgomery GW, Campbell H, Wilson JF, Vrijkotte TGM, Vrijheid M, de Geus EJCN, Hayes MG, Kadarmideen HN, Holm JC, Beilin LJ, Pennell CE, Heinrich J, Adair LS, Borja JB, Mohlke KL, Eriksson JG, Widén EE, Hattersley AT, Spector TD, Kähönen M, Viikari JS, Lehtimäki T, Boomsma DI, Sebert S, Vollenweider P, Sørensen TIA, Bisgaard H, Bønnelykke K, Murray JC, Melbye M, Nohr EA, Mook-Kanamori DO, Rivadeneira F, Hofman A, Felix JF, Jaddoe VWV, Hansen T, Pisinger C, Vaag AA, Pedersen O, Uitterlinden AG, Järvelin MR, Power C, Hyppönen E, Scholtens DM, Lowe WL Jr, Davey Smith G, Timpson NJ, Morris AP, Wareham NJ, Hakonarson H, Grant SFA, Frayling TM, Lawlor DA, Njølstad PR, Johansson S, Ong KK, McCarthy MI, Perry JRB, Evans DM, Freathy RM.

Nat Genet. 2019 May;51(5):804-814. doi: 10.1038/s41588-019-0403-1. Epub 2019 May 1.

6.

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

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

Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21.

7.

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.

8.

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, Christou EAA, Curtis CJ, de Rinaldis E, Saxena A, Holmes S, Harries M, Palamaras I, Cunningham F, Parkins G, Kaur M, Farrant P, McDonagh A, Messenger A, Jones J, Jolliffe V, Ali I, Ardern-Jones M, Mitchell C, Burrows N, Atkar R, Banfield C, Alexandroff A, Champagne C, Cooper HL, Vañó-Galván S, Molina-Ruiz AM, Perez NO, Patel GK, Macbeth A, Page M, Bryden A, Mowbray M, Wahie S, Armstrong K, Cooke N, Goodfield M, Man I, de Berker D, Dunnill G, Takwale A, Rao A, Siah TW, Sinclair R, Wade MS, Dlova NC, Setterfield J, Lewis F, Bhargava K, Kirkpatrick N, Estivill X, Stefanato CM, Flohr C, Spector T, Watt FM, Smith CH, Barker JN, Fenton DA, Simpson MA, McGrath JA.

Nat Commun. 2019 Mar 8;10(1):1150. doi: 10.1038/s41467-019-09117-w.

9.

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.

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

Gene. 2019 May 5;695:12-17. doi: 10.1016/j.gene.2019.02.002. Epub 2019 Feb 7.

PMID:
30738969
10.

The Circulating Transcriptome as a Source of Biomarkers for Melanoma.

Solé C, Tramonti D, Schramm M, Goicoechea I, Armesto M, Hernandez LI, Manterola L, Fernandez-Mercado M, Mujika K, Tuneu A, Jaka A, Tellaetxe M, Friedländer MR, Estivill X, Piazza P, Ortiz-Romero PL, Middleton MR, Lawrie CH.

Cancers (Basel). 2019 Jan 10;11(1). pii: E70. doi: 10.3390/cancers11010070.

11.

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.

12.

miRTrace reveals the organismal origins of microRNA sequencing data.

Kang W, Eldfjell Y, Fromm B, Estivill X, Biryukova I, Friedländer MR.

Genome Biol. 2018 Dec 4;19(1):213. doi: 10.1186/s13059-018-1588-9.

13.

Allele balance bias identifies systematic genotyping errors and false disease associations.

Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet R, Ossowski S.

Hum Mutat. 2019 Jan;40(1):115-126. doi: 10.1002/humu.23674. Epub 2018 Nov 23.

14.

Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis.

Frost J, Estivill X, Ramsay M, Tikly M.

Clin Rheumatol. 2019 Mar;38(3):933-938. doi: 10.1007/s10067-018-4298-5. Epub 2018 Sep 20.

PMID:
30238381
15.

Human Early Life Exposome (HELIX) study: a European population-based exposome cohort.

Maitre L, de Bont J, Casas M, Robinson O, Aasvang GM, Agier L, Andrušaitytė S, Ballester F, Basagaña X, Borràs E, Brochot C, Bustamante M, Carracedo A, de Castro M, Dedele A, Donaire-Gonzalez D, Estivill X, Evandt J, Fossati S, Giorgis-Allemand L, R Gonzalez J, Granum B, Grazuleviciene R, Bjerve Gützkow K, Småstuen Haug L, Hernandez-Ferrer C, Heude B, Ibarluzea J, Julvez J, Karachaliou M, Keun HC, Hjertager Krog N, Lau CE, Leventakou V, Lyon-Caen S, Manzano C, Mason D, McEachan R, Meltzer HM, Petraviciene I, Quentin J, Roumeliotaki T, Sabido E, Saulnier PJ, Siskos AP, Siroux V, Sunyer J, Tamayo I, Urquiza J, Vafeiadi M, van Gent D, Vives-Usano M, Waiblinger D, Warembourg C, Chatzi L, Coen M, van den Hazel P, Nieuwenhuijsen MJ, Slama R, Thomsen C, Wright J, Vrijheid M.

BMJ Open. 2018 Sep 10;8(9):e021311. doi: 10.1136/bmjopen-2017-021311.

16.

Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk.

Rubio M, Bustamante M, Hernandez-Ferrer C, Fernandez-Orth D, Pantano L, Sarria Y, Piqué-Borras M, Vellve K, Agramunt S, Carreras R, Estivill X, Gonzalez JR, Mayor A.

PLoS One. 2018 Mar 5;13(3):e0193527. doi: 10.1371/journal.pone.0193527. eCollection 2018.

17.

Geolocalisation of athletes for out-of-competition drug testing: ethical considerations. Position statement by the WADA Ethics Panel.

Borry P, Caulfield T, Estivill X, Loland S, McNamee M, Knoppers BM; WADA Ethics Panel.

Br J Sports Med. 2018 Apr;52(7):456-459. doi: 10.1136/bjsports-2017-098299. Epub 2018 Mar 2.

18.

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, Bradfield JP, Kreiner-Møller E, Huikari V, Metrustry S, Lunetta KL, Painter JN, Hottenga JJ, Allard C, Barton SJ, Espinosa A, Marsh JA, Potter C, Zhang G, Ang W, Berry DJ, Bouchard L, Das S; Early Growth Genetics (EGG) Consortium, Hakonarson H, Heikkinen J, Helgeland Ø, Hocher B, Hofman A, Inskip HM, Jones SE, Kogevinas M, Lind PA, Marullo L, Medland SE, Murray A, Murray JC, Njølstad PR, Nohr EA, Reichetzeder C, Ring SM, Ruth KS, Santa-Marina L, Scholtens DM, Sebert S, Sengpiel V, Tuke MA, Vaudel M, Weedon MN, Willemsen G, Wood AR, Yaghootkar H, Muglia LJ, Bartels M, Relton CL, Pennell CE, Chatzi L, Estivill X, Holloway JW, Boomsma DI, Montgomery GW, Murabito JM, Spector TD, Power C, Järvelin MR, Bisgaard H, Grant SFA, Sørensen TIA, Jaddoe VW, Jacobsson B, Melbye M, McCarthy MI, Hattersley AT, Hayes MG, Frayling TM, Hivert MF, Felix JF, Hyppönen E, Lowe WL Jr, Evans DM, Lawlor DA, Feenstra B, Freathy RM.

Hum Mol Genet. 2018 Feb 15;27(4):742-756. doi: 10.1093/hmg/ddx429.

19.

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.

Zapata L, Susak H, Drechsel O, Friedländer MR, Estivill X, Ossowski S.

Sci Rep. 2017 Oct 13;7(1):13124. doi: 10.1038/s41598-017-12888-1.

20.

The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3.

Bustamante M, Hernandez-Ferrer C, Sarria Y, Harrison GI, Nonell L, Kang W, Friedländer MR, Estivill X, González JR, Nieuwenhuijsen M, Young AR.

Environ Res. 2017 Nov;159:239-248. doi: 10.1016/j.envres.2017.07.045. Epub 2017 Sep 18.

PMID:
28822308
21.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

22.

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

Yilmaz Z, Szatkiewicz JP, Crowley JJ, Ancalade N, Brandys MK, van Elburg A, de Kovel CGF, Adan RAH, Hinney A, Hebebrand J, Gratacos M, Fernandez-Aranda F, Escaramis G, Gonzalez JR, Estivill X; Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3, Zeggini E, Sullivan PF, Bulik CM.

Psychiatr Genet. 2017 Aug;27(4):152-158. doi: 10.1097/YPG.0000000000000172.

23.

Survey of 800+ data sets from human tissue and body fluid reveals xenomiRs are likely artifacts.

Kang W, Bang-Berthelsen CH, Holm A, Houben AJ, Müller AH, Thymann T, Pociot F, Estivill X, Friedländer MR.

RNA. 2017 Apr;23(4):433-445. doi: 10.1261/rna.059725.116. Epub 2017 Jan 6.

24.

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

Vicente-Salvador D, Puig M, Gayà-Vidal M, Pacheco S, Giner-Delgado C, Noguera I, Izquierdo D, Martínez-Fundichely A, Ruiz-Herrera A, Estivill X, Aguado C, Lucas-Lledó JI, Cáceres M.

Hum Mol Genet. 2017 Feb 1;26(3):567-581. doi: 10.1093/hmg/ddw415.

PMID:
28025331
25.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

26.

Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.

Rué L, Bañez-Coronel M, Creus-Muncunill J, Giralt A, Alcalá-Vida R, Mentxaka G, Kagerbauer B, Zomeño-Abellán MT, Aranda Z, Venturi V, Pérez-Navarro E, Estivill X, Martí E.

J Clin Invest. 2016 Nov 1;126(11):4319-4330. doi: 10.1172/JCI83185. Epub 2016 Oct 10.

27.

Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy.

Morales E, Vilahur N, Salas LA, Motta V, Fernandez MF, Murcia M, Llop S, Tardon A, Fernandez-Tardon G, Santa-Marina L, Gallastegui M, Bollati V, Estivill X, Olea N, Sunyer J, Bustamante M.

Int J Epidemiol. 2016 Oct;45(5):1644-1655. Epub 2016 Sep 1.

PMID:
27591263
28.

Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium.

Marinelli M, Pappa I, Bustamante M, Bonilla C, Suarez A, Tiesler CM, Vilor-Tejedor N, Zafarmand MH, Alvarez-Pedrerol M, Andersson S, Bakermans-Kranenburg MJ, Estivill X, Evans DM, Flexeder C, Forns J, Gonzalez JR, Guxens M, Huss A, van IJzendoorn MH, Jaddoe VW, Julvez J, Lahti J, López-Vicente M, Lopez-Espinosa MJ, Manz J, Mileva-Seitz VR, Perola M, Pesonen AK, Rivadeneira F, Salo PP, Shahand S, Schulz H, Standl M, Thiering E, Timpson NJ, Torrent M, Uitterlinden AG, Smith GD, Estarlich M, Heinrich J, Räikkönen K, Vrijkotte TG, Tiemeier H, Sunyer J.

Sleep. 2016 Oct 1;39(10):1859-1869.

29.

A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

Bustamante M, Standl M, Bassat Q, Vilor-Tejedor N, Medina-Gomez C, Bonilla C, Ahluwalia TS, Bacelis J, Bradfield JP, Tiesler CM, Rivadeneira F, Ring S, Vissing NH, Fink NR, Jugessur A, Mentch FD, Ballester F, Kriebel J, Kiefte-de Jong JC, Wolsk HM, Llop S, Thiering E, Beth SA, Timpson NJ, Andersen J, Schulz H, Jaddoe VW, Evans DM, Waage J, Hakonarson H, Grant SF, Jacobsson B, Bønnelykke K, Bisgaard H, Davey Smith G, Moll HA, Heinrich J, Estivill X, Sunyer J.

Hum Mol Genet. 2016 Sep 15;25(18):4127-4142. doi: 10.1093/hmg/ddw264. Epub 2016 Aug 23.

30.

Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits.

Ortega FJ, Agüera Z, Sabater M, Moreno-Navarrete JM, Alonso-Ledesma I, Xifra G, Botas P, Delgado E, Jimenez-Murcia S, Fernández-García JC, Tinahones FJ, Baños RM, Botella C, de la Torre R, Frühbeck G, Rodrigüez A, Estivill X, Casanueva F, Ricart W, Fernández-Aranda F, Fernández-Real JM.

Mol Nutr Food Res. 2016 Jul;60(7):1673-83. doi: 10.1002/mnfr.201500804. Epub 2016 May 27.

PMID:
27059147
31.

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

Prasad A, Rabionet R, Espinet B, Zapata L, Puiggros A, Melero C, Puig A, Sarria-Trujillo Y, Ossowski S, Garcia-Muret MP, Estrach T, Servitje O, Lopez-Lerma I, Gallardo F, Pujol RM, Estivill X.

J Invest Dermatol. 2016 Jul;136(7):1490-1499. doi: 10.1016/j.jid.2016.03.024. Epub 2016 Mar 30.

32.

Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.

Costas J, Carrera N, Alonso P, Gurriarán X, Segalàs C, Real E, López-Solà C, Mas S, Gassó P, Domènech L, Morell M, Quintela I, Lázaro L, Menchón JM, Estivill X, Carracedo Á.

Transl Psychiatry. 2016 Mar 29;6:e768. doi: 10.1038/tp.2016.34.

33.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X.

Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.

PMID:
26990548
34.

Tying malaria and microRNAs: from the biology to future diagnostic perspectives.

Rubio M, Bassat Q, Estivill X, Mayor A.

Malar J. 2016 Mar 15;15:167. doi: 10.1186/s12936-016-1222-9. Review.

35.

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E.

Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453.

PMID:
26940125
36.

Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome.

Sauchelli S, Jiménez-Murcia S, Sánchez I, Riesco N, Custal N, Fernández-García JC, Garrido-Sánchez L, Tinahones FJ, Steiger H, Israel M, Baños RM, Botella C, de la Torre R, Fernández-Real JM, Ortega FJ, Frühbeck G, Granero R, Tárrega S, Crujeiras AB, Rodríguez A, Estivill X, Beckmann JS, Casanueva FF, Menchón JM, Fernández-Aranda F.

Psychoneuroendocrinology. 2016 Mar;65:102-8. doi: 10.1016/j.psyneuen.2015.12.014. Epub 2015 Dec 21.

PMID:
26741881
37.

Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta.

Vilahur N, Bustamante M, Morales E, Motta V, Fernandez MF, Salas LA, Escaramis G, Ballester F, Murcia M, Tardon A, Riaño I, Santa-Marina L, Ibarluzea J, Arrebola JP, Estivill X, Bollati V, Sunyer J, Olea N.

Epigenomics. 2016 Jan;8(1):43-54. doi: 10.2217/epi.15.91. Epub 2015 Dec 18.

PMID:
26679211
38.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

39.

Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis.

Pantano L, Friedländer MR, Escaramís G, Lizano E, Pallarès-Albanell J, Ferrer I, Estivill X, Martí E.

Bioinformatics. 2016 Mar 1;32(5):673-81. doi: 10.1093/bioinformatics/btv632. Epub 2015 Nov 2.

40.

Mutations in DCHS1 cause mitral valve prolapse.

Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.

Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.

41.

Non-coding recurrent mutations in chronic lymphocytic leukaemia.

Puente XS, Beà S, Valdés-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, Munar M, Rubio-Pérez C, Jares P, Aymerich M, Baumann T, Beekman R, Belver L, Carrio A, Castellano G, Clot G, Colado E, Colomer D, Costa D, Delgado J, Enjuanes A, Estivill X, Ferrando AA, Gelpí JL, González B, González S, González M, Gut M, Hernández-Rivas JM, López-Guerra M, Martín-García D, Navarro A, Nicolás P, Orozco M, Payer ÁR, Pinyol M, Pisano DG, Puente DA, Queirós AC, Quesada V, Romeo-Casabona CM, Royo C, Royo R, Rozman M, Russiñol N, Salaverría I, Stamatopoulos K, Stunnenberg HG, Tamborero D, Terol MJ, Valencia A, López-Bigas N, Torrents D, Gut I, López-Guillermo A, López-Otín C, Campo E.

Nature. 2015 Oct 22;526(7574):519-24. doi: 10.1038/nature14666. Epub 2015 Jul 22.

PMID:
26200345
42.

Smell-taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions.

Fernández-Aranda F, Agüera Z, Fernández-García JC, Garrido-Sanchez L, Alcaide-Torres J, Tinahones FJ, Giner-Bartolomé C, Baños RM, Botella C, Cebolla A, de la Torre R, Fernández-Real JM, Ortega FJ, Frühbeck G, Gómez-Ambrosi J, Granero R, Islam MA, Jiménez-Murcia S, Tárrega S, Menchón JM, Fagundo AB, Sancho C, Estivill X, Treasure J, Casanueva FF.

Endocrine. 2016 Feb;51(2):256-67. doi: 10.1007/s12020-015-0684-9. Epub 2015 Jul 22.

PMID:
26198367
43.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X.

Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17.

44.

Circulating Betatrophin Levels Are Increased in Anorexia and Decreased in Morbidly Obese Women.

Barja-Fernández S, Folgueira C, Seoane LM, Casanueva FF, Dieguez C, Castelao C, Agüera Z, Baños R, Botella C, de la Torre R, Fernández-García JC, Fernández-Real JM, Frühbeck G, Gómez-Ambrosi J, Jiménez-Murcia S, Tinahones FJ, Estivill X, Fernández-Aranda F, Nogueiras R.

J Clin Endocrinol Metab. 2015 Sep;100(9):E1188-96. doi: 10.1210/JC.2015-1595. Epub 2015 Jul 14.

PMID:
26171798
45.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Milà M.

Gene. 2015 Oct 15;571(1):52-7. doi: 10.1016/j.gene.2015.06.039. Epub 2015 Jun 18.

PMID:
26095811
46.

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN.

Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3.

47.

Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

Yin X, Low HQ, Wang L, Li Y, Ellinghaus E, Han J, Estivill X, Sun L, Zuo X, Shen C, Zhu C, Zhang A, Sanchez F, Padyukov L, Catanese JJ, Krueger GG, Duffin KC, Mucha S, Weichenthal M, Weidinger S, Lieb W, Foo JN, Li Y, Sim K, Liany H, Irwan I, Teo Y, Theng CT, Gupta R, Bowcock A, De Jager PL, Qureshi AA, de Bakker PI, Seielstad M, Liao W, Ståhle M, Franke A, Zhang X, Liu J.

Nat Commun. 2015 Apr 23;6:6916. doi: 10.1038/ncomms7916.

48.

Genetic variation and alternative splicing.

Estivill X.

Nat Biotechnol. 2015 Apr;33(4):357-9. doi: 10.1038/nbt.3195. No abstract available.

PMID:
25850059
49.

Switching to zebrafish neurobehavioral models: The obsessive-compulsive disorder paradigm.

D'Amico D, Estivill X, Terriente J.

Eur J Pharmacol. 2015 Jul 15;759:142-50. doi: 10.1016/j.ejphar.2015.03.027. Epub 2015 Mar 24. Review.

PMID:
25814246
50.

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

Bassaganyas L, Beà S, Escaramís G, Tornador C, Salaverria I, Zapata L, Drechsel O, Ferreira PG, Rodriguez-Santiago B, Tubio JM, Navarro A, Martín-García D, López C, Martínez-Trillos A, López-Guillermo A, Gut M, Ossowski S, López-Otín C, Campo E, Estivill X.

Leukemia. 2015 Mar;29(3):758. doi: 10.1038/leu.2014.309. No abstract available.

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