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Year Number of Results
2008 1
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2011 5
2012 3
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2016 1
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2018 3
2019 2
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2022 2
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32 results

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Page 1
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Taft J, et al. Among authors: hollink ihim. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. Cell. 2021. PMID: 34363755 Free PMC article.
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL. Tyler PM, et al. Among authors: hollink ihim. Nat Immunol. 2021 Sep;22(9):1118-1126. doi: 10.1038/s41590-021-00984-4. Epub 2021 Jul 29. Nat Immunol. 2021. PMID: 34326534 Free PMC article.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium. van der Meij KRM, et al. Among authors: hollink ihim. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708118 Free PMC article.
Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.
Zhou Z, Hollink IHIM, Bouman A, Lourens MS, Brooimans RA, van Ham TJ, Fraaij PLA, van Rossum AMC, Zijtregtop EAM, Dik WA, Dalm VASH, van Hagen PM, Ijspeert H, Vermont CL. Zhou Z, et al. Among authors: hollink ihim. Pediatr Allergy Immunol. 2022 Apr;33(4):e13768. doi: 10.1111/pai.13768. Pediatr Allergy Immunol. 2022. PMID: 35470942 Free PMC article. No abstract available.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: hollink ihim. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME. Elsink K, et al. Among authors: hollink ihim. Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30. Eur J Hum Genet. 2021. PMID: 32733070 Free PMC article.
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.
Joosse ME, Charbit-Henrion F, Boisgard R, Raatgeep RHC, Lindenbergh-Kortleve DJ, Costes LMM, Nugteren S, Guegan N, Parlato M, Veenbergen S, Malan V, Nowak JK, Hollink IHIM, Mearin ML, Escher JC, Cerf-Bensussan N, Samsom JN. Joosse ME, et al. Among authors: hollink ihim. Mucosal Immunol. 2021 Sep;14(5):1172-1182. doi: 10.1038/s41385-021-00423-5. Epub 2021 Jul 5. Mucosal Immunol. 2021. PMID: 34226674 Free PMC article.
32 results