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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.
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.
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: hollink ihim. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, van der Burg M; SONNET-Study Group. Blom M, et al. Among authors: hollink ihim. J Clin Immunol. 2021 Jan;41(1):99-108. doi: 10.1007/s10875-020-00886-4. Epub 2020 Oct 18. J Clin Immunol. 2021. PMID: 33070266 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.
35 results