Ghent University Academic Bibliography

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

Add to list
- Miscellaneous
- open access
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)

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

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.
Add to list
- Miscellaneous
Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Eva Vanbelleghem (UGent) , Tim Van Damme (UGent) , Aude Beyens (UGent) , Sofie Symoens (UGent) , Kathleen Claes (UGent) , Julie De Backer (UGent) , Ilse Meerschaut, Floris Vanommeslaeghe (UGent) , Sigurd Delanghe (UGent) , Jenneke van den Ende, et al.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.
Add to list
- Conference Paper
- C3
Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment (Award Candidate)

Lisa Hamerlinck (UGent) , Eva D'haene (UGent) , Nore Van Loon (UGent) , Michael B Vaughan (UGent) , Maria del Rocio Pérez Baca (UGent) , Lara Colombo (UGent) , Sebastian Leimbacher (UGent) , Lies Vantomme (UGent) , Esperanza Daal (UGent) , Annelies Dheedene (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.745-746
Add to list
- Conference Paper
- C3
Multi-omics profiling of human ovarian granulosa cells uncovers cell type-specific regulatory landscapes

Charlotte Matton (UGent) , Julie Van De Velde (UGent) , Quinten Mahieu (UGent) , Lisa Hamerlinck (UGent) , Lara Colombo (UGent) , Sarah Vergult (UGent) , Alexandre Segers (UGent) , Mattias Van Heetvelde (UGent) , Seoyeon Oh (UGent) , Celine Everaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.573-573
Add to list
- Conference Paper
- C3
Homozygous loss-of-function variants in GNGT1 cause retinitis pigmentosa in humans (Award Candidate)

Abdur Rashid, Helen Nabiryo Frederiksen, Hafiz Muhammad Azhar Baig, Shahbaz Khan, Ijaz Anwar, Sergey Oreshkov, Fabrizio Vacca, Elfride De Baere (UGent) , Veronika Vaclavik, Katarina Stingl, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.93-94
Add to list
- Conference Paper
- C3
Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.94-95
Add to list
- Conference Paper
- C3
Accurate quantification of mitochondrial DNA heteroplasmy and copy number at the single cell level with digital PCR (Award Candidate)

Noemi Castelluccio (UGent) , Andrei Rybouchkin (UGent) , Sofie Symoens (UGent) , Wim Trypsteen (UGent) , Paul Coucke (UGent) , Björn Menten (UGent) , Ward De Spiegelaere (UGent) , Dominic Stoop (UGent) and Björn Heindryckx (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.706-706
Add to list
- Conference Paper
- C3
Cellular senescence in pseudoxanthoma elasticum

Robbe Derudder (UGent) , Daniela Quaglino, Lukas Nollet (UGent) , Matthias Van Gils (UGent) , Mohammad Jakir Hosen (UGent) , Janina Tiemann, Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.655-655
Add to list
- Conference Paper
- C3
RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock, 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. In European Journal of Human Genetics 33(Supplement 1). p.691-691
Add to list
- Conference Paper
- C3
Lysosomal macular dystrophy is a novel ocular phenotype associated with biallelic variants affecting AP-5/ SPG11/SPG15 complex

Cristina Moreira Santos, Karolina Kaminska, Maximilian Pfau, Laura Kuehlewein, Andrew Browning, Francesca Cancellieri, Mathieu Quinodoz, Abigail Moye, Miriam Bauwens (UGent) , Siying Lin, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.610-611

Academic Bibliography

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment (Award Candidate)

Multi-omics profiling of human ovarian granulosa cells uncovers cell type-specific regulatory landscapes

Homozygous loss-of-function variants in GNGT1 cause retinitis pigmentosa in humans (Award Candidate)

Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

Accurate quantification of mitochondrial DNA heteroplasmy and copy number at the single cell level with digital PCR (Award Candidate)

Cellular senescence in pseudoxanthoma elasticum

RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD

Lysosomal macular dystrophy is a novel ocular phenotype associated with biallelic variants affecting AP-5/ SPG11/SPG15 complex

Contents

Support

Contact