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Year Number of Results
1972 2
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2002 2
2003 9
2004 2
2005 2
2006 7
2007 8
2008 10
2009 11
2010 8
2011 12
2012 23
2013 20
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2015 13
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2018 25
2019 28
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325 results

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Page 1
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: mayr d. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.
Abrahamian C, Tang R, Deutsch R, Ouologuem L, Weiden EM, Kudrina V, Blenninger J, Rilling J, Feldmann C, Kuss S, Stepanov Y, Rosato AS, Calvo GT, Soengas MS, Mayr D, Fröhlich T, Gudermann T, Biel M, Wahl-Schott C, Chen CC, Bartel K, Grimm C. Abrahamian C, et al. Among authors: mayr d. Nat Commun. 2024 Nov 19;15(1):10008. doi: 10.1038/s41467-024-54324-9. Nat Commun. 2024. PMID: 39562548 Free PMC article.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: mayr d. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N, Miller G, Oprea TI, Hsu CW, Fobo G, Frishman G, Montrone C, Haseli Mashhadi H, Mason J, Munoz Fuentes V, Leuchtenberger S, Ruepp A, Wagner M, Westphal DS, Wolf C, Görlach A, Sanz-Moreno A, Cho YL, Teperino R, Brandmaier S, Sharma S, Galter IR, Östereicher MA, Zapf L, Mayer-Kuckuk P, Rozman J, Teboul L, Bunton-Stasyshyn RKA, Cater H, Stewart M, Christou S, Westerberg H, Willett AM, Wotton JM, Roper WB, Christiansen AE, Ward CS, Heaney JD, Reynolds CL, Prochazka J, Bower L, Clary D, Selloum M, Bou About G, Wendling O, Jacobs H, Leblanc S, Meziane H, Sorg T, Audain E, Gilly A, Rayner NW; IMPC consortium; Genomics England Research Consortium; Hitz MP, Zeggini E, Wolf E, Sedlacek R, Murray SA, Svenson KL, Braun RE, White JK, Kelsey L, Gao X, Shiroishi T, Xu Y, Seong JK, Mammano F, Tocchini-Valentini GP, Beaudet AL, Meehan TF, Parkinson H, Smedley D, Mallon AM, Wells SE, Grallert H, Wurst W, Marschall S, Fuchs H, Brown SDM, Flenniken AM, Nutter LMJ, McKerlie C, Herault Y, Lloyd KCK, Dickinson ME, Gailus-Durner V, Hrabe de Angelis M. Spielmann N, et al. Nat Cardiovasc Res. 2022 Feb;1(2):157-173. doi: 10.1038/s44161-022-00018-8. Epub 2022 Feb 17. Nat Cardiovasc Res. 2022. PMID: 39195995 Free PMC article.
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Maródi L, Szücs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Seppänen M, Vänttinen M, Martelius T, Grönholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarström Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. Knox AVC, et al. Among authors: mayr d. Blood. 2025 May 29;145(22):2549-2560. doi: 10.1182/blood.2024026683. Blood. 2025. PMID: 39854693
Mitochondrial adaptation in steatotic mice.
Einer C, Hohenester S, Wimmer R, Wottke L, Artmann R, Schulz S, Gosmann C, Simmons A, Leitzinger C, Eberhagen C, Borchard S, Schmitt S, Hauck SM, von Toerne C, Jastroch M, Walheim E, Rust C, Gerbes AL, Popper B, Mayr D, Schnurr M, Vollmar AM, Denk G, Zischka H. Einer C, et al. Among authors: mayr d. Mitochondrion. 2018 May;40:1-12. doi: 10.1016/j.mito.2017.08.015. Epub 2017 Sep 19. Mitochondrion. 2018. PMID: 28935446
Bi-directional x-ray phase-contrast mammography.
Scherer K, Birnbacher L, Chabior M, Herzen J, Mayr D, Grandl S, Sztrókay-Gaul A, Hellerhoff K, Bamberg F, Pfeiffer F. Scherer K, et al. Among authors: mayr d. PLoS One. 2014 May 13;9(5):e93502. doi: 10.1371/journal.pone.0093502. eCollection 2014. PLoS One. 2014. PMID: 24824594 Free PMC article.
Toward Clinically Compatible Phase-Contrast Mammography.
Scherer K, Willer K, Gromann L, Birnbacher L, Braig E, Grandl S, Sztrókay-Gaul A, Herzen J, Mayr D, Hellerhoff K, Pfeiffer F. Scherer K, et al. Among authors: mayr d. PLoS One. 2015 Jun 25;10(6):e0130776. doi: 10.1371/journal.pone.0130776. eCollection 2015. PLoS One. 2015. PMID: 26110618 Free PMC article.
[Grading of gynecological tumors : Current aspects].
Horn LC, Mayr D, Brambs CE, Einenkel J, Sändig I, Schierle K. Horn LC, et al. Among authors: mayr d. Pathologe. 2016 Jul;37(4):337-51. doi: 10.1007/s00292-016-0183-7. Pathologe. 2016. PMID: 27379622 Review. German.
325 results