prof. Sofie Symoens

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Shana Verschuere (UGent) , Sofie Symoens (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2025) JOURNAL OF INVESTIGATIVE DERMATOLOGY.

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Journal Article
A1
open access

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

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. 33(8). p.1085-1089

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Miscellaneous
open access

De novo CUL3 variant in a child presenting with hypertension and kidney failure

Lieselot Peremans (UGent) , Amélie Dendooven (UGent) , Erika D'haenens (UGent) , Sofie Symoens (UGent) , Bert Callewaert (UGent) , Laurenz Decock, Lies Vantomme (UGent) , Sarah Vergult (UGent) , Jo Dehoorne (UGent) , Lien Dossche (UGent) , et al.

(2025) KIDNEY INTERNATIONAL REPORTS. 10(7). p.2484-2487

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A1
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Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice

Aude Beyens (UGent) , Jozefien Weytens (UGent) , Lore Pottie (UGent) , Sofie De Meulemeester, Karolien Aelbrecht (UGent) , Silke De Feyter (UGent) , Sofie De Schepper (UGent) , Eline Van Holm (UGent) , Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2025) JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. 92(3). p.607-610

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A1
open access

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude Beyens (UGent) , Stefanie van de Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn (UGent) , Sandra Janssens (UGent) , R. Frank Kooy, Toon Rosseel (UGent) , Sofie Symoens (UGent) , et al.

(2025) CLINICAL GENETICS. 107(5). p.579-581

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A1
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Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance

Lisa De Witte (UGent) , Machteld Baetens (UGent) , Kelly Tilleman (UGent) , Frauke Vanden Meerschaut (UGent) , Sandra Janssens (UGent) , Ariane Van Tongerloo (UGent) , Virginie Szymczak (UGent) , Dominic Stoop (UGent) , Annelies Dheedene (UGent) , Sofie Symoens (UGent) , et al.

(2024) HUMAN REPRODUCTION OPEN. 2024(4).

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A1
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High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Arantxa Cardona Barberán (UGent) , Ramesh Reddy Guggilla, Cora Colenbier, Emma Van der Velden, Andrei Rybouchkin (UGent) , Dominic Stoop (UGent) , Luc Leybaert (UGent) , Paul Coucke (UGent) , Sofie Symoens (UGent) , Annekatrien Boel (UGent) , et al.

(2024) HUMAN REPRODUCTION OPEN. 2024(4).

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A1
open access

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

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.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(9). p.1086-1094

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Book Chapter

Classic Ehlers-Danlos syndrome

Fransiska Malfait (UGent) , Sofie Symoens (UGent) and Delfien Syx (UGent)

(2024) GeneReviews®.

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An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Karolien Aelbrecht (UGent) , Aude Beyens (UGent) , Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn (UGent) , Frank Kooy, Evelyn Meulewaeter, Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2024) 2nd World Congress on Rare Skin Diseases, Abstracts.

Academic Bibliography

prof. Sofie Symoens

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

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

De novo CUL3 variant in a child presenting with hypertension and kidney failure

Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Classic Ehlers-Danlos syndrome

An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

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