Ghent University Academic Bibliography

Journal Article
A1
open access

Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stoehr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, et al.

(2024) BIOMOLECULES. 14(3).

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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam Bauwens (UGent) , Elifnaz Celik, Dinah Zur, Siying Lin, Mathieu Quinodoz, Michel Michaelides, Andrew R Webster, Filip Van Den Broeck (UGent) , Bart Leroy (UGent) , Leah Rizel, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(2). p.393-402

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Journal Article
A1
open access

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Marjolein Carron (UGent) , Attila Placido Sachslehner, Münevver Burcu Cicekdal (UGent) , Inge Bruggeman (UGent) , Suzan Demuynck (UGent) , Bahar Golabi, Elfride De Baere (UGent) , Wim Declercq (UGent) , Erwin Tschachler, Kris Vleminckx (UGent) , et al.

(2024) NATURE COMMUNICATIONS. 15(1).

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Conference Paper
C3
open access

The clinical use of exome sequencing to diagnose PCD patients

Lore Pottie (UGent) , Sofie Symoens (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.385-385

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Journal Article
A1
open access

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Rajarshi Mukherjee, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Andy Willaert (UGent) and Elfride De Baere (UGent)

(2024) NATURE COMMUNICATIONS. 15(1).

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Journal Article
A1
open access

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo Valero (UGent) , Basamat Almoallem Mohammed, Alfredo Dueñas Rey (UGent) , Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Laila Jeddawi, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2024) CLINICAL GENETICS. p.1-13

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Journal Article
A1
open access

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey (UGent) , Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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Journal Article
A1
open access

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey (UGent) , Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele (UGent) , Lies Vantomme (UGent) , Quinten Mahieu (UGent) , et al.

(2024) GENOME BIOLOGY. 25(1).

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Miscellaneous

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Elfride De Baere (UGent) , Eric Legius, Reiner A. Veitia and Kathleen Claes (UGent)

(2024) CLINICAL GENETICS.

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Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa Hamerlinck (UGent) , Eva D'haene (UGent) , Nore Van Loon (UGent) , Maria del Rocio Pérez Baca (UGent) , Sarah Vergult (UGent) , Bert Callewaert (UGent) , Elfride De Baere (UGent) , Björn Menten (UGent) , Lies Vantomme (UGent) and Michael B Vaughan (UGent)

(2024) Belgian Society for Human Genetics (BeSHG) Annual Symposium 2024 : Single Cells : to care or not to care, Abstracts.

Academic Bibliography

Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

The clinical use of exome sequencing to diagnose PCD patients

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Structural variants disrupt a critical regulatory region downstream of FOXG1

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