42 results on '"De Bruyne, Marieke"'
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2. Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin
3. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
4. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
5. Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
6. Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
7. Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease
8. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
9. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
10. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
11. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
12. GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
13. A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
14. High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation
15. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1
16. A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair
17. ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM
18. Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
19. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene
20. Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
21. Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19
22. Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
23. Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
24. A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
25. GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner
26. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity
27. A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
28. Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene.
29. GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
30. A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
31. When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF
32. CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-kB signaling by inhibiting Bcl10 recruitment
33. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
34. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
35. The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives
36. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination
37. When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
38. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
39. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
40. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
41. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T H 17 immunity.
42. The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives.
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