prof. Sofie Symoens

Journal Article
A1
open access

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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Journal Article
A1
open access

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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Journal Article

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 E. Delanghe, Jenneke van den Ende, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS.

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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.

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Conference Paper
C3
open access

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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Journal Article
A1
open access

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn (UGent) , Goran Mitulovic, Veronika Reiterer, Margot Haun, Michaela M. Mayr, et al.

(2023) EMBO MOLECULAR MEDICINE. 15(4).

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Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Andy Willaert (UGent) , Peter Byers (UGent) , Paul Coucke (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.394-394

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Preimplantation genetic testing in Belgium : recommendations for the genetic centres

E Fernandez Gallardo, M De Rycke, V Berckmoes, P Verdyck, E Dimitriadou, O Tsuiko, E Denayer, Machteld Baetens (UGent) , Sandra Janssens (UGent) , Sofie Symoens (UGent) , et al.

(2023) HUMAN REPRODUCTION. In Human Reproduction 38(Supplement 1). p.i527-i528

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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Andy Willaert (UGent) , Riet De Rycke (UGent) , Peter H. Byers, et al.

(2023) JOURNAL OF BONE AND MINERAL RESEARCH. 38(11). p.1718-1730

Academic Bibliography

prof. Sofie Symoens

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

The clinical use of exome sequencing to diagnose PCD patients

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Preimplantation genetic testing in Belgium : recommendations for the genetic centres

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

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