Ghent University Academic Bibliography

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van Hoorde, Fanny Nerinckx (UGent) , Elke O. Kreps (UGent) , Dimitri Roels (UGent) , Philippe Huyghe, Mattias Van Heetvelde (UGent) , Hannah Verdin (UGent) , Elfride De Baere (UGent) , Irina Balikova and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS.

Add to list

Conference Paper

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophyand Hearing Loss

Giulia Ascari (UGent) , Nanna D Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021)

Add to list

Conference Paper

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone‐Rod Dystrophy and Hearing Loss

Giulia Ascari (UGent) , Nanna D Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021)

Add to list

Journal Article
A1
open access

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.

Add to list

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Antoon Meylemans, Pieter Depuydt (UGent) , Elfride De Baere (UGent) , Katrien Hertegonne (UGent) , Eric Derom (UGent) , Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)

(2021) ACTA NEUROLOGICA BELGICA. 121. p.23-35

Add to list

Journal Article
A1
open access

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Xuan-Thanh-An Nguyen, Mays Talib, Caroline Van Cauwenbergh (UGent) , Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, et al.

(2021) RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 41(1). p.213-223

Add to list

Journal Article
A1
open access

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine Strubbe (UGent) , Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , Sarah De Jaegere (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Stijn Van De Sompele (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) SCIENTIFIC REPORTS. 11.

Add to list

Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

Julie De Zaeytijd (UGent) , Caroline Van Cauwenbergh (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Elfride De Baere (UGent) , Frauke Coppieters (UGent) and Bart Leroy (UGent)

(2021) RETINA (PHILADELPHIA, PA.).

Add to list

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien Bogaert (UGent) , Genevieve Laureys (UGent) , Leslie Naesens (UGent) , Dominiek Mazure (UGent) , Marieke De Bruyne (UGent) , Amy P. Hsu, Maria Bordon Cueto De Braem (UGent) , Erik Wouters, Simon Tavernier (UGent) , Bart Lambrecht (UGent) , et al.

(2020) BRITISH JOURNAL OF HAEMATOLOGY. 188(5). p.768-773

Add to list

Journal Article
A1
open access

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise Pozza, Hannah Verdin (UGent) , Hilde Deconinck, Annelies Dheedene (UGent) , Björn Menten (UGent) , Elfride De Baere (UGent) and Irina Balikova (UGent)

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(5).

Academic Bibliography

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophyand Hearing Loss

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone‐Rod Dystrophy and Hearing Loss

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Contents

Support

Contact