Ghent University Academic Bibliography

Journal Article
A1
open access

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 11.

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Journal Article
A1
open access

The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency

Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin (UGent) , Sofie Symoens (UGent) , Elfride De Baere (UGent) , et al.

(2023) JOURNAL OF CLINICAL MEDICINE. 12(3).

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Journal Article
A2
open access

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Kent W. Small, Stijn Van de Sompele (UGent) , Jessica Avetisjan, Nitin Udar, Steven Agemy, Elfride De Baere (UGent) and Fadi S. Shaya

(2023) JOURNAL OF VITREORETINAL DISEASES. 7(1). p.33-42

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Journal Article
A2
open access

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere (UGent) , Bart Loeys, Miikka Vikkula, Guillaume Smits and Tom Lenaerts

(2023) HUMAN GENETICS AND GENOMICS ADVANCES. 4(1).

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Journal Article
A1
open access

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens (UGent) , Alfredo Dueñas Rey (UGent) , Stephan Kaeseberg, Melanie Jaeger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, et al.

(2023) JOURNAL OF CLINICAL INVESTIGATION. 133(8).

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Book

Blepharophimosis, ptosis, and epicanthus inversus syndrome

Hannah Verdin (UGent) , Charlotte Matton (UGent) and Elfride De Baere (UGent)

(2022) In GeneReviews

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Journal Article
A1
open access

The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres

Luca Persani, Martine Cools (UGent) , Stamatina Ioakim, S. Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T. Bruggenwirth, Justin H. Davies, et al.

(2022) ENDOCRINE CONNECTIONS. 11(12).

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Journal Article
A1
open access

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2029-2048

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Miscellaneous

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.

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Journal Article
A1
open access

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

Leslie Naesens (UGent) , Santoshi Muppala, Dhiraj Acharya, Josephine Nemegeer (UGent) , Delfien Bogaert (UGent) , Jung-Hyun Lee, Katrien Staes (UGent) , Veronique Debacker (UGent) , Pieter De Bleser (UGent) , Marieke De Bruyne (UGent) , et al.

(2022) SCIENCE IMMUNOLOGY. 7(77).

Academic Bibliography

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Blepharophimosis, ptosis, and epicanthus inversus syndrome

The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

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