Ghent University Academic Bibliography

Your filters: cql: parent exact "European Journal of Human Genetics"

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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock (UGent) , Laura Muiño Mosquera (UGent) , Katya De Groote (UGent) , Kristof Vandekerckhove (UGent) , Joseph Panzer (UGent) , Ellen Roets (UGent) , Björn Menten (UGent) , Sofie Symoens (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. 33(8). p.1085-1089
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- C3
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When the phenotype is more severe than expected : coexistence of X-linked and dominant ichthyosis in an African patient

Kim van Berkel, Nathalie Vanden Eynde, Sophie Golstein, Ann Van Den Bogaert, Boyan Dimitrov, Sophie Lecomte, Fransiska Malfait (UGent) and Joelle Rabinowitch

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.402-402
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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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ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

Monika Grudzinska Pechhacker, Francesco Rotolo, Dorothee Leroux, Amelie Gavard, Caroline Wernert-Iberg, Maximin Begin, Bernard Coupez, Petra Liskova, Daniel Boehringer, Frank G. Holz, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.379-380
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Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases

Nikolas Pontikos, William Woof, Miriam Bauwens (UGent) , Saoud Al-Khuzaei, Behnam Javanmardi, Michalis Georgiou, Malena Daich Varela, Thales Antonio Cabral De Guimaraes, Muhammad Moghul, Alice Davidson, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.5-6
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Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Giulia Ascari (UGent) , Münevver Burcu Cicekdal (UGent) , Eva D'haene (UGent) , Quinten Mahieu (UGent) , Hanna De Saffel (UGent) , Andy Willaert (UGent) , Kris Vleminckx (UGent) , Juan Jesus Tena-Aguilar, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.39-40
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Cancer prognosis in PTEN Hamartoma Tumor Syndrome : a European cohort study

Linda Hendricks, Katja Verbeek, Hilde Brems, Robin de Putter (UGent) , Lenka Foretova, Chrystelle Colas, Patrick Benusiglio, Claude Houdayer, Arne Jahn, Verena Steinke-Lange, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.563-564
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CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Münevver Burcu Cicekdal (UGent) , Fabiola Ceroni, Richard Holt, Thomas Naert (UGent) , Soeren S. Lienkamp, Elena Sorokin, Elena Semina, Nicolas Chassaing, Nicola Ragge, Elfride De Baere (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.247-247
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Clinical impact of RNA-sequencing in diagnostics

Laurenz De Cock (UGent) , Erika D'haenens (UGent) , Sarah Vergult (UGent) , Lies Vantomme (UGent) , Annelies Dheedene (UGent) , Robin de Putter (UGent) , Tim Van Damme (UGent) , Jo Sourbron (UGent) , Bert Callewaert (UGent) , Olivier Vanakker (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.648-648
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Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Kathleen Claes (UGent) , Lynn Backers (UGent) , Elien Beyls (UGent) , Evi Duthoo (UGent) , Bram Parton (UGent) , Veronique Debacker (UGent) , Kim De Leeneer (UGent) , Marieke De Bruyne (UGent) , Levi Hoste (UGent) , Ans Baeyens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550

Academic Bibliography

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

When the phenotype is more severe than expected : coexistence of X-linked and dominant ichthyosis in an African patient

The clinical use of exome sequencing to diagnose PCD patients

ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases

Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Cancer prognosis in PTEN Hamartoma Tumor Syndrome : a European cohort study

CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Clinical impact of RNA-sequencing in diagnostics

Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

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