Researcher
Miriam Bauwens
- Keywords:medical genomics, inherited blindness
- Disciplines:Medical genomics, Molecular diagnostics, Medical transcriptomics, Other clinical sciences not elsewhere classified, Palliative care and end-of-life care, Laboratory medicine, Other translational sciences, Regenerative medicine, Nursing, Other clinical sciences, Other basic sciences, Other paramedical sciences, Other health sciences, Other medical and health sciences
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Department of Pediatrics and medical genetics (Department)
Member
From12 Sep 2012 → 30 Sep 2018
Projects
1 - 3 of 3
- Role of the ultraconserved IRXA cluster in North Carolina Macular Dystrophy, a retinal enhanceropathyFrom1 Nov 2023 → TodayFunding: FWO fellowships
- An integrated CRISPR/iPSC-based approach to elucidate uncertain variation in RPE65, a target for gene therapyFrom1 Nov 2022 → TodayFunding: FWO Strategic Basic Research Grant
- Exploring the role of non-coding variation in hereditary blindness: Stargardt disease as a modelFrom1 Oct 2013 → 30 Sep 2017Funding: FWO fellowships, BOF - Other initiatives
Publications
31 - 40 of 45
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion(2015)
Authors: Kristof Van Schil, Françoise Meire, Marcus Karlstetter, Miriam Bauwens, Hannah Verdin, Eva Scheiffert, Christian Van Nechel, Thomas Langmann, Nicolas Deconinck
Pages: 291 - 299 - Hidden genetic variation in LCA9-associated congenital blindness explained by 5U+2032UTR mutations and copy-number variations of NMNAT1(2015)
Authors: Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert, Marieke De Bruyne, Hannah Verdin, Miriam Bauwens, Maté Ongenaert, Mineo Kondo, Françoise Meire, Akira Murakami, et al.
Pages: 1188 - 1196 - Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus(2015)
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, SOPHIE WALRAEDT, Patricia Delbeke, Julie De Zaeytijd
Number of pages: 1 - Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus(2015)Volume: 56
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, SOPHIE WALRAEDT, Patricia Delbeke, Julie De Zaeytijd
Number of pages: 1 - Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy(2015)
Authors: Galuh DN Astuti, Vincent Sun, Miriam Bauwens, Ditta Zobor, Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, Christian Hamel, et al.
Pages: 14 - 29 - Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy(2015)
Authors: Kristof Van Schil, Marcus Karlstetter, Françoise Meire, Miriam Bauwens, Hannah Verdin, Eva Scheiffert, Nicolas Deconinck, Thomas Langmann
Number of pages: 1 - Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus(2014)
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, Sophie Walraedt, Patricia Delbeke, Julie De Zaeytijd
Number of pages: 1 - Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus(2014)
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, SOPHIE WALRAEDT, Patricia Delbeke, Julie De Zaeytijd
Number of pages: 1 - Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus(2014)
Authors: Basamat Almoallem Mohammed H, Miriam Bauwens, Sophie Walraedt, Patricia Delbeke, Hannah Verdin, Julie De Zaeytijd
Number of pages: 1 - Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy(2014)
Authors: Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Tom Sante, Nouha Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire
Pages: 671 - 680