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Year Number of Results
2012 1
2013 5
2014 4
2015 4
2016 5
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2018 5
2019 4
2020 6
2021 9
2022 4
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2024 8

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57 results

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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: schmitz abe k. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Harb H, Stephen-Victor E, Crestani E, Benamar M, Massoud A, Cui Y, Charbonnier LM, Arbag S, Baris S, Cunnigham A, Leyva-Castillo JM, Geha RS, Mousavi AJ, Guennewig B, Schmitz-Abe K, Sioutas C, Phipatanakul W, Chatila TA. Harb H, et al. Among authors: schmitz abe k. Nat Immunol. 2020 Nov;21(11):1359-1370. doi: 10.1038/s41590-020-0777-3. Epub 2020 Sep 14. Nat Immunol. 2020. PMID: 32929274 Free PMC article.
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Harb H, Benamar M, Lai PS, Contini P, Griffith JW, Crestani E, Schmitz-Abe K, Chen Q, Fong J, Marri L, Filaci G, Del Zotto G, Pishesha N, Kolifrath S, Broggi A, Ghosh S, Gelmez MY, Oktelik FB, Cetin EA, Kiykim A, Kose M, Wang Z, Cui Y, Yu XG, Li JZ, Berra L, Stephen-Victor E, Charbonnier LM, Zanoni I, Ploegh H, Deniz G, De Palma R, Chatila TA. Harb H, et al. Among authors: schmitz abe k. Immunity. 2021 Jun 8;54(6):1186-1199.e7. doi: 10.1016/j.immuni.2021.04.002. Epub 2021 Apr 28. Immunity. 2021. PMID: 33915108 Free PMC article.
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH; Overcoming COVID-19 Investigators; Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. Benamar M, et al. Among authors: schmitz abe k. J Clin Invest. 2023 Jan 3;133(1):e163235. doi: 10.1172/JCI163235. J Clin Invest. 2023. PMID: 36282598 Free PMC article.
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Baris S, et al. Among authors: schmitz abe k. J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023. Epub 2023 Feb 8. J Allergy Clin Immunol. 2023. PMID: 36758835 Free PMC article.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S. Kasap N, et al. Among authors: schmitz abe k. J Clin Immunol. 2023 Nov;43(8):1882-1890. doi: 10.1007/s10875-023-01554-z. Epub 2023 Jul 29. J Clin Immunol. 2023. PMID: 37507632
Ringed sideroblasts in β-thalassemia.
Cattivelli K, Campagna DR, Schmitz-Abe K, Heeney MM, Yaish HM, Caruso Brown AE, Kearney S, Walkovich K, Markianos K, Fleming MD, Neufeld EJ. Cattivelli K, et al. Among authors: schmitz abe k. Pediatr Blood Cancer. 2017 May;64(5):10.1002/pbc.26324. doi: 10.1002/pbc.26324. Epub 2016 Nov 3. Pediatr Blood Cancer. 2017. PMID: 27808451 Free PMC article.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: schmitz abe k. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis.
Cui Y, Benamar M, Schmitz-Abe K, Poondi-Krishnan V, Chen Q, Jugder BE, Fatou B, Fong J, Zhong Y, Mehta S, Buyanbat A, Eklioglu BS, Karabiber E, Baris S, Kiykim A, Keles S, Stephen-Victor E, Angelini C, Charbonnier LM, Chatila TA. Cui Y, et al. Among authors: schmitz abe k. Sci Immunol. 2022 Sep 23;7(75):eabl8357. doi: 10.1126/sciimmunol.abl8357. Epub 2022 Sep 23. Sci Immunol. 2022. PMID: 36149942 Free PMC article.
57 results