Ghent University Academic Bibliography

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease : results from the Montalcino Aortic Consortium

Michelle Su-Anne Lim, Dong-Chuan Guo, Walter Velasco Torrez, Andrew Lai, Jonathan Schweber, Nikita Garg, Julie Fleischer, Catherine Boileau, Julie De Backer (UGent) , Artur Evangelista, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(2). p.82-88

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A1
open access

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Jeshurun C. Kalanithy, Enrico Mingardo, Jil D. Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A. Rosenfeld, Wen-Hann Tan, Stephanie A. Coury, Audrey C. Woerner, Jessica Sebastian, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(2). p.126-137

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Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Mederic Jeanne, Nathalie Ronce, Solene Remize, Stephanie Arpin, Genevieve Baujat, Sylvain Breton, Florence Petit, Clemence Vanlerberghe, Anne Coeslier-Dieux, Sylvie Manouvrier-Hanu, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(4). p.258-267

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations

Katalin Szakszon, Charles Marques Lourenco, Bert Callewaert (UGent) , David Genevieve, Flavien Rouxel, Denis Morin, Anne-Sophie Denomme-Pichon, Antonio Vitobello, Wesley Patterson, Raymond Louie, et al.

(2024) JOURNAL OF MEDICAL GENETICS. 61(2). p.132-141

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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx (UGent) , Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(9). p.865-877

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Journal Article
A1
open access

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jerome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(6). p.559-567

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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Lukas Nollet (UGent) , Laurence Campens (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Dimitri Hemelsoet (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2022) JOURNAL OF MEDICAL GENETICS. 59(5). p.496-504

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A1
open access

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, et al.

(2021) JOURNAL OF MEDICAL GENETICS. 58(5). p.305-313

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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Maarten F C M Knapen, Elfride De Baere (UGent) , Martine Cools (UGent) , Conny M A van Ravenswaaij-Arts, Birgit Sikkema-Raddatz, et al.

(2020) JOURNAL OF MEDICAL GENETICS. 57(9). p.581-589

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SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño Mosquera (UGent) , Bert Callewaert (UGent) , Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, et al.

(2019) JOURNAL OF MEDICAL GENETICS. 56(4). p.252-260

Academic Bibliography

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease : results from the Montalcino Aortic Consortium

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

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