Ghent University Academic Bibliography

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

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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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- A1
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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen Claes (UGent) , Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32. p.479-488
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Reconciling the biomedical data commons and the GDPR : three lessons from the EUCAN ELSI collaboratory

Alexander Bernier, Fruzsina Molnár-Gábor, Bartha M. Knoppers, Pascal Borry, Priscilla M. D. G. Cesar, Thijs Devriendt, Melanie Goisauf, Madeleine Murtagh, Pilar Nicolás Jiménez, Mikel Recuero, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32. p.69-76
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Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert (UGent) , Elke de Boer, Lisenka E. L. M. Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(2). p.200-208
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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. 32. 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. 32. p.European Soc Human Genetics-648

Academic Bibliography

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

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Reconciling the biomedical data commons and the GDPR : three lessons from the EUCAN ELSI collaboratory

Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

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

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