Miriam Bauwens
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Explore the profile of Miriam Bauwens including associated specialties, affiliations and a list of published articles.
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30
Citations
662
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, et al.
NPJ Genom Med
. 2025 Mar;
10(1):19.
PMID: 40055385
An integrated approach combining whole exome sequencing (WES) and autozygosity mapping was used to molecularly diagnose inherited retinal disease (IRD) in 192 unrelated Iranian families, 76.1% of which originate from...
3.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
4.
Bauwens M, De Man V, Audo I, Balikova I, Zein W, Smirnov V, et al.
Clin Genet
. 2024 Aug;
107(1):44-55.
PMID: 39199020
Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss....
5.
Dhaene E, Lopez-Soriano V, Martinez-Garcia P, Kalayanamontri S, Duenas Rey A, Sousa-Ortega A, et al.
Genome Biol
. 2024 May;
25(1):123.
PMID: 38760655
Background: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal...
6.
Lopez Soriano V, Duenas Rey A, Mukherjee R, Coppieters F, Bauwens M, Willaert A, et al.
Nat Commun
. 2024 May;
15(1):3935.
PMID: 38729949
No abstract available.
7.
Hitti-Malin R, Panneman D, Corradi Z, Boonen E, Astuti G, Dhaenens C, et al.
Biomolecules
. 2024 Mar;
14(3).
PMID: 38540785
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion...
8.
Del Pozo-Valero M, Almoallem B, Duenas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, et al.
Clin Genet
. 2024 Mar;
106(2):127-139.
PMID: 38468396
Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES)...
9.
Lopez Soriano V, Duenas Rey A, Mukherjee R, Coppieters F, Bauwens M, Willaert A, et al.
Nat Commun
. 2024 Feb;
15(1):1600.
PMID: 38383453
Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific cis-regulators of developmental gene...
10.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, et al.
Am J Hum Genet
. 2024 Jan;
111(2):393-402.
PMID: 38272031
Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod...