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AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U. Terhal P, et al. Among authors: lessel d. Am J Hum Genet. 2023 Sep 7;110(9):1470-1481. doi: 10.1016/j.ajhg.2023.07.011. Epub 2023 Aug 14. Am J Hum Genet. 2023. PMID: 37582359 Free PMC article.
Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
Sud A, Thomsen H, Law PJ, Försti A, da Silva Filho MI, Holroyd A, Broderick P, Orlando G, Lenive O, Wright L, Cooke R, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium; Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP, Lightfoot T, Kane E, Roman E, Lake A, Montgomery D, Jarrett RF, Swerdlow AJ, Engert A, Orr N, Hemminki K, Houlston RS. Sud A, et al. Nat Commun. 2019 Jan 8;10(1):157. doi: 10.1038/s41467-018-08105-w. Nat Commun. 2019. PMID: 30622283 Free PMC article.
Long-Term Antibody Response to SARS-CoV-2 in Children.
Dunay GA, Barroso M, Woidy M, Danecka MK, Engels G, Hermann K, Neumann FS, Paul K, Beime J, Escherich G, Fehse K, Grinstein L, Haniel F, Haupt LJ, Hecher L, Kehl T, Kemen C, Kemper MJ, Kobbe R, Kohl A, Klokow T, Nörz D, Olfe J, Schlenker F, Schmiesing J, Schrum J, Sibbertsen F, Stock P, Tiede S, Vettorazzi E, Zazara DE, Zapf A, Lütgehetmann M, Oh J, Mir TS, Muntau AC, Gersting SW; C19.CHILD Study Group. Dunay GA, et al. J Clin Immunol. 2023 Jan;43(1):46-56. doi: 10.1007/s10875-022-01355-w. Epub 2022 Sep 19. J Clin Immunol. 2023. PMID: 36121535 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: lessel d. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Assessing the causal role of epigenetic clocks in the development of multiple cancers: a Mendelian randomization study.
Morales Berstein F, McCartney DL, Lu AT, Tsilidis KK, Bouras E, Haycock P, Burrows K, Phipps AI, Buchanan DD, Cheng I; PRACTICAL consortium; Martin RM, Davey Smith G, Relton CL, Horvath S, Marioni RE, Richardson TG, Richmond RC. Morales Berstein F, et al. Elife. 2022 Mar 29;11:e75374. doi: 10.7554/eLife.75374. Elife. 2022. PMID: 35346416 Free PMC article.
Shared heritability and functional enrichment across six solid cancers.
Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA,… See abstract for full author list ➔ Jiang X, et al. Among authors: lessel d. Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4. Nat Commun. 2019. PMID: 30683880 Free PMC article.
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium; Greaves M, Zimmerman M, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. Vijayakrishnan J, et al. Nat Commun. 2019 Jan 21;10(1):419. doi: 10.1038/s41467-018-08106-9. Nat Commun. 2019. PMID: 30664635 Free PMC article.
114 results