Scientific publications

• RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease
• Hordyjewska-Kowalczyk Ewa, Wuyts Wim, Boeckx Nele, Verdonck An, Hendrickx Gretl, Mortier Geert

Clinical genetics - ISSN 1399-0004 - Hoboken, Wiley, 105:4(2024), p. 434-439
Full text (Publisher's DOI): https://doi.org/10.1111/CGE.14474
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11083

• An additional Lrp4 high bone mass mutation mitigates the sost-knockout phenotype in mice by increasing bone remodeling
• Hendrickx Gretl, Boudin Eveline, Mateiu Ligia, Yorgan Timur A., Steenackers Ellen, Kneissel Michaela, Kramer Ina, Mortier Geert, Schinke Thorsten, Van Hul Wim

Calcified tissue international - ISSN 1432-0827 - New york, Springer, 114:2(2024), p. 171-181
Full text (Publisher's DOI): https://doi.org/10.1007/S00223-023-01158-0
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:21475
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11093

• A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis
• Huybrechts Yentl, Appelman-Dijkstra Natasha M., Steenackers Ellen, Van Beylen Wouter, Mortier Geert, Hendrickx Gretl, Van Hul Wim

The journal of clinical endocrinology and metabolism - ISSN 1945-7197 - Washington, Endocrine soc, 109:7(2024), p. 1891-1898
Full text (Publisher's DOI): https://doi.org/10.1210/CLINEM/DGAD757
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22149
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11293

• Decoding the genetic puzzle of inherited cardiac arrhythmias : insights from molecular autopsy, genetic profiling and iPSC-derived cardiomyocyte modelling
• Simons Eline, Alaerts Maaike [Supervisor], Loeys Bart [Supervisor], Schepers Dorien [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Science, 2024, 201 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22141

• CRISPR/Cas9-edited ROS1 + non-small cell lung cancer cell lines highlight differential drug sensitivity in 2D vs 3D cultures while reflecting established resistance profiles
• Terrones Bernat Marc, Deben Christophe, Rodrigues Fortes Felicia, Schepers Anne, op de Beeck Ken, Van Camp Guy, Vandeweyer Geert

Journal of translational medicine - ISSN 1479-5876 - 22:1(2024), 234
Full text (Publisher's DOI): https://doi.org/10.1186/S12967-024-04988-0
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22171

• Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
• Thys Liene, Meuwissen Marije, Janssens Katrien, Beysen Diane

Heliyon - ISSN 2405-8440 - 10:1(2024), e23746
Full text (Publisher's DOI): https://doi.org/10.1016/J.HELIYON.2023.E23746
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22218

• Identification of a DLG3 stop mutation in the MRX20 family
• Huyghebaert Jolien, Mateiu Ligia, Elinck Ellen, Van Rossem Kirsten, Christiaenssen Bregje, D' Incal Claudio, Mccormack Michael K., Lazzarini Alice, Vandeweyer Geert, Kooy Frank

European journal of human genetics / European Society of Human Genetics - ISSN 1476-5438 - London, Springernature, 32(2024), p. 317-323
Full text (Publisher's DOI): https://doi.org/10.1038/S41431-024-01537-7
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22464
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11541

• Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
• Luyckx Ilse, Walton Isaac Scott, Boeckx Nele, Van Schil Kristof, Pang Chingyiu, De Praeter Mania, Lord Helen, Watson Christopher Mark, Bonthron David T., Van Laer Lut, Wilkie Andrew O.M., Loeys Bart

Journal of medical genetics - ISSN 1468-6244 - London, Bmj publishing group, 61:4(2024), p. 363-368
Full text (Publisher's DOI): https://doi.org/10.1136/JMG-2023-109151
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22302

• Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
• D' Incal Claudio, Annear Dale, Elinck Ellen, van der Smagt Jasper J., Alders Marielle, Dingemans Alexander J.M., Mateiu Ligia, de Vries Bert B.A., Vanden Berghe Wim, Kooy Frank

European journal of human genetics / European Society of Human Genetics - ISSN 1476-5438 - London, Springernature, 32(2024), p. 630-638
Full text (Publisher's DOI): https://doi.org/10.1038/S41431-024-01556-4
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22888

• Genetic testing in patients with unexplained coronary aneurysms or dilation
• Adlam David, van Dijk Fleur S., Loeys Bart

European heart journal - ISSN 1522-9645 - Oxford, Oxford univ press, (2024), p. 1-3
Full text (Publisher's DOI): https://doi.org/10.1093/EURHEARTJ/EHAE217

• ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
• D' Incal Claudio, Van Dijck Anke, Ibrahim Joe, De Man Kevin, Bastini Lina, Konings Anthony, Elinck Ellen, Gozes Lllana, Marusic Zlatko, Anicic Mirna, Vukovic Jurica, Van der Aa Nathalie, Mateiu Ligia, Vanden Berghe Wim, Kooy Frank

Acta neuropathologica communications - ISSN 2051-5960 - 12:1(2024), 62
Full text (Publisher's DOI): https://doi.org/10.1186/S40478-024-01743-W
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:23315

• The impact of confined placental mosaicism on prenatal cell-free DNA screening : insights from a monocentric study of 99 cases
• Rosenblum Jessica, Blaumeiser Bettina, Janssens Katrien

Placenta - ISSN 1532-3102 - 152(2024), p. 17-22
Full text (Publisher's DOI): https://doi.org/10.1016/J.PLACENTA.2024.04.012
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:23427
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11932

• Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy : a case control study
• Boen Hanne, Alaerts Maaike, Goovaerts Inge, Saenen Johan, Franssen Constantijn, Vorlat Anne, Vermeulen Tom, Heidbüchel Hein, Van Laer Lut, Loeys Bart, van Craenenbroeck Emeline

Cardio-Oncology - ISSN 2057-3804 - 10:1(2024), 26
Full text (Publisher's DOI): https://doi.org/10.1186/S40959-024-00231-3
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:23568

• Investigation of strategies to block downstream effectors of AT1R-mediated signalling to prevent aneurysm formation in Marfan syndrome
• Valdivia Callejon Irene, Buccioli Lucia, Bastianen Jarl, Schippers Jolien, Verstraeten Aline, Luyckx Ilse, Peeters Silke, Danser A.H. Jan, Van Kimmenade Roland R.J., Meester Josephina, Loeys Bart

International journal of molecular sciences - ISSN 1422-0067 - 25:9(2024), 5025
Full text (Publisher's DOI): https://doi.org/10.3390/IJMS25095025
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:23620

• Circulating MicroRNA as biomarkers of anthracycline-induced cardiotoxicity
• Boen Hanne, Cherubin Martina, Franssen Constantijn, Gevaert Andreas, Witvrouwen Isabel, Bosman Matthias, Guns Pieter-Jan, Heidbüchel Hein, Loeys Bart, Alaerts Maaike, van Craenenbroeck Emeline

JACC : CardioOncology - ISSN 2666-0873 - 6:2(2024), p. 183-199
Full text (Publisher's DOI): https://doi.org/10.1016/J.JACCAO.2023.12.009
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:23870

• Phenotypic spectrum of the first Belgian MYBPC3 founder : a large multi-exon deletion with a varying phenotype
• Boen Hanne, Alaerts Maaike, Van Laer Lut, Saenen Johan, Goovaerts Inge, Bastianen Jarl, Koopman Pieter, Vanduynhoven Philippe, De Vuyst Elke, Rosseel Michael, Heidbüchel Hein, van Craenenbroeck Emeline, Loeys Bart

Frontiers in genetics - ISSN 1664-8021 - 15(2024), 1392527
Full text (Publisher's DOI): https://doi.org/10.3389/FGENE.2024.1392527
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:24073

• An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome
• Van Den Heuvel Lotte, Peeters Silke, Meester Josephina, Coucke Paul J., Loeys Bart

Drug discovery today - ISSN 1359-6446 - 29:7(2024), 104023
Full text (Publisher's DOI): https://doi.org/10.1016/J.DRUDIS.2024.104023
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:24414
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:12196

• Bringing biomarkers to clinical practice in metastatic colorectal cancer : primary tumor location, methylation and liquid biopsies
• Janssens Katleen, op de Beeck Ken [Supervisor], Van Camp Guy [Supervisor], Peeters Marc [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2024, 242 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:24127

• Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
• D' Incal Claudio, Cappuyns Elisa, Choukri Kaoutar, De Man Kevin, Szrama Kristy, Konings Anthony, Bastini Lina, Van Meel Kim, Buys Amber, Gabriele Michele, Rizzuti Ludovico, Vitriolo Alessandro, Testa Giuseppe, Mohn Fabio, Buhler Marc, Van der Aa Nathalie, Van Dijck Anke, Kooy Frank, Vanden Berghe Wim

Scientific reports - ISSN 2045-2322 - 14:1(2024), 14710
Full text (Publisher's DOI): https://doi.org/10.1038/S41598-024-65608-X
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:24520

• Monocentric study on the performance of noninvasive prenatal testing on cell-free DNA for the detection of monosomy X
• Steinfort Kelly, Fransen Erik, Blaumeiser Bettina, Janssens Katrien

Prenatal diagnosis - ISSN 1097-0223 - Hoboken, Wiley, 44:10(2024), p. 1210-1217
Full text (Publisher's DOI): https://doi.org/10.1002/PD.6643
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:12501

• Assessment of tricuspid regurgitation by cardiac magnetic resonance imaging : current role and future applications
• Pype Lobke, Domenech-Ximenos Blanca, Paelinck Bernard, Sturkenboom Nicole, Van De Heyning Caroline

Journal of Clinical Medicine - ISSN 2077-0383 - Basel, Mdpi, 13:15(2024), 4481
Full text (Publisher's DOI): https://doi.org/10.3390/JCM13154481
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:24855

• Enhancing cancer detection through novel DNA methylation strategies and biomarkers
• Neefs Isabelle, op de Beeck Ken [Supervisor], Van Camp Guy [Supervisor], Peeters Marc [Supervisor]

Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2024, 283 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:25082

• From silence to surge : illuminating the stealthy threat of aneurysms and dissections with the aid of cell models and insights into the genetic architecture
• Perik Melanie, Van Laer Lut [Supervisor], Loeys Bart [Supervisor], Verstraeten Aline [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2024, 269 p.

• Clinicopathological and molecular differences between stage IV screen-detected and interval colorectal cancers in the Flemish screening program
• Neefs Isabelle, Tran Thuy Ngan, Ferrari Allegra, Janssens Sharon, van Herck Koen, op de Beeck Ken, Van Camp Guy, Peeters Marc, Fransen Erik, Hoeck Sarah, Van Hal Guido F.

Frontiers in oncology / Frontiers Research Foundation (Lausanne, Switzerland) - ISSN 2234-943X - 14(2024), 1409196
Full text (Publisher's DOI): https://doi.org/10.3389/FONC.2024.1409196
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:25282

• IMPRESS : imethylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay
• Vandenhoeck Janah, Neefs Isabelle, Vanpoucke Thomas, Ibrahim Joe, Suls Arvid, Peeters Dieter, Schepers Anne, Hoischen Alexander, Fransen Erik, Peeters Marc, Van Camp Guy, op de Beeck Ken

The British journal of cancer - ISSN 1532-1827 - 131(2024), p. 1224-1236
Full text (Publisher's DOI): https://doi.org/10.1038/S41416-024-02809-1
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:25284

• Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin
• Boen Hanne, Vandendriessche Bert, Schippers Jolien, Rabaut Laura, Nijak Aleksandra, Ponsaerts Peter, van Craenenbroeck Emeline, Loeys Bart, Alaerts Maaike

Stem cell research - ISSN 1876-7753 - 81(2024), 103536
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2024.103536
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:25458

• A case-control study supports genetic contribution of the PON gene family in obesity and metabolic dysfunction associated steatotic liver disease
• Van Dijck Evelien, Diels Sara, Fransen Erik, Canter Cremers Tycho, Verrijken An, Dirinck Eveline, Hoischen Alexander, Vandeweyer Geert, Vanden Berghe Wim, Van Gaal Luc, Francque Sven, Van Hul Wim

Antioxidants - ISSN 2076-3921 - 13:9(2024), 1051
Full text (Publisher's DOI): https://doi.org/10.3390/ANTIOX13091051
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:26188

• Recognisable neuroradiological findings in five neurogenetic disorders
• Rosenblum Jessica, Meuwissen Marije, Jansen Anna, Oegema Renske, Reddy Nihaal, Mankad Kshitij, Sudhakar Sniya

Clinical genetics - ISSN 1399-0004 - Hoboken, Wiley, 107:1(2024), p. 13-22
Full text (Publisher's DOI): https://doi.org/10.1111/CGE.14637
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:13255

• Implementing CRISPR/Cas9 into the study of anticancer drug resistance
• Terrones Bernat Marc, op de Beeck Ken, Van Camp Guy, Vandeweyer Geert

Interdisciplinary cancer research - ISSN 2731-457X - Cham, Springer, 2024, p. 1-18
Full text (Publisher's DOI): https://doi.org/10.1007/16833_2024_404

• Methylation biomarkers for pleural mesothelioma : from epigenetic landscape analysis to diagnostic assay development
• Vandenhoeck Janah, Van Camp Guy [Supervisor], op de Beeck Ken [Supervisor], van Meerbeeck Jan [Supervisor]

Antwerpen, Universiteit Antwerpen, Faculteit Geneeskunde en Gezondheidswetenschappen, 2024, 236 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:26675

• Profiling targeted therapy responses in ROS1+ non-small cell lung cancer using genomically engineered patient-derived cell lines
• Terrones Bernat Marc, Vandeweyer Geert [Supervisor], op de Beeck Ken [Supervisor], Van Camp Guy [Supervisor]

Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Medical Genetics, 2024, 308 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:26685

• Transcriptomic analysis of ROS1+ non-small cell lung cancer reveals an upregulation of nucleotide synthesis and cell adhesion pathways
• Terrones Bernat Marc, op de Beeck Ken, Van Camp Guy, Vandeweyer Geert, Mateiu Ligia

Frontiers in oncology / Frontiers Research Foundation (Lausanne, Switzerland) - ISSN 2234-943X - 14(2024), 1408697
Full text (Publisher's DOI): https://doi.org/10.3389/FONC.2024.1408697
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:27010

• Genome-wide DNA methylation analysis reveals a unique methylation pattern for pleural mesothelioma compared to healthy pleura and other lung diseases
• Vandenhoeck Janah, Ibrahim Joe, De Meulenaere Nele, Peeters Dieter, Raskin Jo, Hendriks Jeroen, van Schil Paul, van Meerbeeck Jan, Van Camp Guy, op de Beeck Ken

Clinical epigenetics - ISSN 1868-7083 - 16:1(2024), 176
Full text (Publisher's DOI): https://doi.org/10.1186/S13148-024-01790-Z
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:27202

• Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel
• Drackley A., Somerville C., Arnaud P., Baudhuin L.M., Hanna N., Kluge M.L., Kotzer K., Boileau C., Bronicki L., Callewaert B., Cecchi A., Dietz H., Guo D., Harris S., Jarinova O., Lindsay M., Little L., Loeys Bart, Maccarrick G., Meester Josephina, ...

Genome medicine - ISSN 1756-994X - 16:1(2024), 154
Full text (Publisher's DOI): https://doi.org/10.1186/S13073-024-01423-3
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:27309

• Exploring the conformational space of ROS1 kinase domain and the impact of allosteric mutations

Ul Haq Farhan, Vilacha Juliana Fatima, op de Beeck Ken, Van Camp Guy, Marrink Siewert-Jan, Vandeweyer Geert

Journal of biomolecular structure and dynamics - ISSN 1538-0254 - Philadelphia, Taylor & francis inc, (2024)16 p.

Full text (Publisher's DOI): https://doi.org/10.1080/07391102.2024.2448677

Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:3697

• Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
• Beyltjens Tessi, Boudin Eveline, Revencu Nicole, Boeckx Nele, Bertrand Miriam, Schuetz Leon, Haack Tobias B., Weber Axel, Biliouri Eleni, Vinksel Mateja, Zagozen Anja, Peterlin Borut, Pai Shashidhar, Telegrafi Aida, Henderson Lindsay B., Ells Courtney, Turner Lesley, Wuyts Wim, Van Hul Wim, Hendrickx Gretl, ...

Journal of medical genetics - ISSN 0022-2593 - 60(2023), p. 498-504
Full text (Publisher's DOI): https://doi.org/10.1136/JMG-2022-108739
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14720

• High bone mass disorders : new insights from connecting the clinic and the bench
• Bergen Dylan J.M., Maurizi Antonio, Formosa Melissa M., McDonald Georgina L.K., El-Gazzar Ahmed, Hassan Neelam, Brandi Maria-Luisa, Riancho Jose A., Rivadeneira Fernando, Ntzani Evangelia, Duncan Emma L., Gregson Celia L., Kiel Douglas P., Zillikens M. Carola, Sangiorgi Luca, Hogler Wolfgang, Duran Ivan, Makitie Outi, Van Hul Wim, Hendrickx Gretl

Journal of bone and mineral research - ISSN 0884-0431 - 38:2(2023), p. 229-247
Full text (Publisher's DOI): https://doi.org/10.1002/JBMR.4715
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14722

• varAmpliCNV : analyzing variance of amplicons to detect CNVs in targeted NGS data
• Kumar Ajay, Loeys Bart, van de Beek Gerarda, Peeters Nils, Wuyts Wim, Van Laer Lut, Vandeweyer Geert, Alaerts Maaike

Bioinformatics - ISSN 1367-4811 - Oxford, Oxford univ press, 31:1(2023), p. 1-8
Full text (Publisher's DOI): https://doi.org/10.1093/BIOINFORMATICS/BTAC756
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15656

• A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix
• Hendrickx Gretl, Boudin Eveline, Steenackers Ellen, Collet Corinne, Mortier Geert, Genevi David, Van Hul Wim

Bone / International Bone and Mineral Society - ISSN 1873-2763 - 167(2023), 116633
Full text (Publisher's DOI): https://doi.org/10.1016/J.BONE.2022.116633
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15807
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:8667

• Osteocytic sclerostin expression as an indicator of altered bone turnover
• Huybrechts Yentl, Evenepoel Pieter, Haarhaus Mathias, Cavalier Etienne, Dams Geert, Van Hul Wim, d' Haese Patrick C., Verhulst Anja

Nutrients - ISSN 2072-6643 - 15:3(2023), 598
Full text (Publisher's DOI): https://doi.org/10.3390/NU15030598
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15897

• Targeted next-generation sequencing in children with bilateral sensorineural hearing loss : diagnostic yield and predictors of a genetic cause
• Boudewyns An, van den Ende Jenneke, Peeters Nils, Van Camp Guy, Hofkens-Van den Brandt Anouk, Van Schil Kristof, Wouters Kristien, Wuyts Wim

Otology and neurotology - ISSN 1537-4505 - 44:4(2023), p. 360-366
Full text (Publisher's DOI): https://doi.org/10.1097/MAO.0000000000003841
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16231
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:8894

• Structural genomic variants in thoracic aortic disease
• Meester Josephina, Hebert Anne, Loeys Bart

Current opinion in cardiology - ISSN 1531-7080 - 38:3(2023), p. 157-161
Full text (Publisher's DOI): https://doi.org/10.1097/HCO.0000000000001030
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16244

• Identification of a novel nonsense variant in the DLL3 gene underlying spondylocostal dysostosis in a consanguineous Pakistani family
• Khan Feroz, Arshad Abida, Ullah Asmat, Steenackers Ellen, Mortier Geert, Ahmad Wasim, Arshad Muhammad, Khan Sarmir, Hayat Amir, Khan Ikram, Khan Muhammad Asim, Van Hul Wim

Molecular syndromology - ISSN 1661-8777 - Basel, Karger, 14:3(2023), p. 191-200
Full text (Publisher's DOI): https://doi.org/10.1159/000527043
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16272

• Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
• Sieliwonczyk Ewa, Alaerts Maaike, Simons Eline, Snyders Dirk, Nijak Aleksandra, Vandendriessche Bert, Schepers Dorien, Akdeniz Dogan, van Craenenbroeck Emeline, Knaepen Katleen, Rabaut Laura, Heidbüchel Hein, Van Laer Lut, Saenen Johan, Labro Alain, Loeys Bart

Orphanet journal of rare diseases - ISSN 1750-1172 - 18:1(2023), 23
Full text (Publisher's DOI): https://doi.org/10.1186/S13023-023-02618-4
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16304

• The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection
• Verstraeten Aline, Fedoryshchenko Ivanna, Loeys Bart

European heart journal - ISSN 1522-9645 - Oxford, Oxford univ press, 44:14(2023), p. 1262-1264
Full text (Publisher's DOI): https://doi.org/10.1093/EURHEARTJ/EHAC771
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16323

• Fish, founders and fluorescent indicators : progress of inherited cardiac arrhythmia genomics in the new sequencing era
• Sieliwonczyk Ewa, Loeys Bart [Supervisor], Schepers Dorien [Supervisor], Saenen Johan [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2023, 233 p.

• Implementation of exome sequencing in prenatal diagnostics : chances and challenges
• Janicki Ewa, De Rademaker Marjan, Meunier Colombine, Boeckx Nele, Blaumeiser Bettina, Janssens Katrien

Diagnostics - ISSN 2075-4418 - 13:5(2023), 860
Full text (Publisher's DOI): https://doi.org/10.3390/DIAGNOSTICS13050860
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16812

• Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p. Cys1791Tyr) variant
• Peeters Silke, Fedoryshchenko Ivanna, Rabaut Laura, Verstraeten Aline, Loeys Bart

Stem cell research - ISSN 1876-7753 - 68(2023), 103050
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2023.103050
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16855

• The position of circulating tumor DNA in the clinical management of colorectal cancer
• de Abreu Ana Regina, op de Beeck Ken, Laurent-Puig Pierre, Taly Valerie, Benhaim Leonor

Cancers - ISSN 2072-6694 - Basel, Mdpi, 15:4(2023), 1284
Full text (Publisher's DOI): https://doi.org/10.3390/CANCERS15041284
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16893

• iPSC-derived cardiomyocytes in inherited cardiac arrhythmias : pathomechanistic discovery and drug development
• Simons Eline, Loeys Bart, Alaerts Maaike

Biomedicines / Multidisciplinary Digital Publishing Institute - ISSN 2227-9059 - Basel, Mdpi, 11:2(2023), 334
Full text (Publisher's DOI): https://doi.org/10.3390/BIOMEDICINES11020334
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16918

• Mouse models of fragile X-related disorders
• Willemsen Rob, Kooy Frank

Disease Models & Mechanisms - ISSN 1754-8411 - Cambridge, Company biologists ltd, 16:2(2023), dmm049485
Full text (Publisher's DOI): https://doi.org/10.1242/DMM.049485
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16923

• Methylation biomarkers for early cancer detection and diagnosis : current and future perspectives
• Ibrahim Joe, Peeters Marc, Van Camp Guy, op de Beeck Ken

European journal of cancer - ISSN 1879-0852 - London, 178(2023), p. 91-113
Full text (Publisher's DOI): https://doi.org/10.1016/J.EJCA.2022.10.015
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:9218

• ADNP in reverse gear
• D' Incal Claudio, Kooy Frank

European journal of human genetics / European Society of Human Genetics - ISSN 1476-5438 - London, Springernature, 31(2023), p. 849-850
Full text (Publisher's DOI): https://doi.org/10.1038/S41431-023-01360-6
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17326

• Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping
• Sieliwonczyk Ewa, Vandendriessche Bert, Claes Charlotte, Mayeur Evy, Alaerts Maaike, Holmgren Philip, Canter Cremers Tycho, Snyders Dirk, Loeys Bart, Schepers Dorien

Scientific reports - ISSN 2045-2322 - 13:1(2023), p. 1-13
Full text (Publisher's DOI): https://doi.org/10.1038/S41598-023-27503-9
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17384

• Marfan Syndrome
• Vanhoenacker Filip, Snoeckx Annemie, Loeys Bart

Musculoskeletal imaging - ISBN 978-3-030-57376-8 - Cham, Springer, 2023, p. 1-10
Full text (Publisher's DOI): https://doi.org/10.1007/978-3-030-57376-8_78-1
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:9633

• Computational profiling of aberrant DNA methylation in cancer : diagnostic biomarkers and beyond
• Ibrahim Joe, Van Camp Guy [Supervisor], Peeters Marc [Supervisor], op de Beeck Ken [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2023, 199 p.

• Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
• D' Incal Claudio, Van Rossem Kirsten, De Man Kevin, Konings Anthony, Van Dijck Anke, Rizzuti Ludovico, Vitriolo Alessandro, Testa Giuseppe, Gozes Illana, Vanden Berghe Wim, Kooy Frank

Clinical epigenetics - ISSN 1868-7083 - 15:1(2023), 45
Full text (Publisher's DOI): https://doi.org/10.1186/S13148-023-01450-8
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18101

• CGG short tandem repeats in unexplained intellectual disability and autism
• Annear Dale, Vandeweyer Geert [Supervisor], Kooy Frank [Supervisor]

Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Medical Genetics, 2023, 268 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18163

• Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum
• Thys Liene, Beysen Diane, Jansen Anna, Janssens Katrien, Meuwissen Marije

American journal of medical genetics : part A - ISSN 1552-4833 - Hoboken, Wiley, 191:9(2023), p. 2451-2453
Full text (Publisher's DOI): https://doi.org/10.1002/AJMG.A.63347
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18604
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:9945

• Unraveling the genetic landscape of high bone mass disorders and Paget’s disease of bone: From variant identification and validation to zebrafish modeling
• Huybrechts Yentl, Van Hul Wim [Supervisor], Mortier Geert [Supervisor]

Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2023, 194 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18846

• Epigenome-wide methylation analysis of colorectal carcinoma, adenoma and normal tissue reveals novel biomarkers addressing unmet clinical needs
• Janssens Katleen, Neefs Isabelle, Ibrahim Joe, Schepers Anne, Pauwels Patrick, Peeters Marc, Van Camp Guy, op de Beeck Ken

Clinical epigenetics - ISSN 1868-7083 - 15:1(2023), 111
Full text (Publisher's DOI): https://doi.org/10.1186/S13148-023-01516-7
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18884

• Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions
• Annear Dale, Kooy Frank

Emerging topics in life sciences / Biochemical Society [Londen]; Royal Society of Biology [Londen] - ISSN 2397-8562 - London, Portland press ltd, 7:3(2023), p. 265-275
Full text (Publisher's DOI): https://doi.org/10.1042/ETLS20230021
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:20182

• Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
• Rosenblum Jessica, Van Der Veeken Lennart, Aertsen Michael, Meuwissen Marije, Jansen Anna

European journal of medical genetics - ISSN 1878-0849 - 66:11(2023), 104855
Full text (Publisher's DOI): https://doi.org/10.1016/J.EJMG.2023.104855
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:20655
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:10768

• Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
• Perik Melanie, Govaerts Emmanuela, Laga Steven, Goovaerts Inge, Saenen Johan, van Craenenbroeck Emeline, Meester Josephina, Luyckx Ilse, Rodrigus Inez, Verstraeten Aline, Van Laer Lut, Loeys Bart

Frontiers in genetics - ISSN 1664-8021 - 14(2023), 1251675
Full text (Publisher's DOI): https://doi.org/10.3389/FGENE.2023.1251675
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:20673

• Importin-8 and lysyl oxidase : human and murine insights into the pathogenesis of thoracic aortic aneurysm
• Van Gucht Ilse, Loeys Bart [Supervisor], Verstraeten Aline [Supervisor], Van Laer Lut [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2023, 230 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:20611

• The quest for circulating biomarkers in neuroendocrine neoplasms : a clinical perspective
• Mariën Laura, Islam Odeta, Chhajlani Siddharth, Lybaert Willem, Peeters Marc, Van Camp Guy, op de Beeck Ken, Vandamme Timon

Current treatment options in oncology - ISSN 1534-6277 - 24:12(2023), p. 1833-1851
Full text (Publisher's DOI): https://doi.org/10.1007/S11864-023-01147-3
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:20957
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:10908

• Singlet oxygen-based photoelectrochemical detection of single-point mutations in the KRAS oncogene
• Daems Elise, Bassini Simone, Mariën Laura, Op de Beeck Hannah, Stratulat Alexandr, Zwaenepoel Karen, Vandamme Timon, op de Beeck Ken, Koljenovic Senada, Peeters Marc, Van Camp Guy, De Wael Karolien

Biosensors and bioelectronics - ISSN 1873-4235 - 249(2024), 115957
Full text (Publisher's DOI): https://doi.org/10.1016/J.BIOS.2023.115957
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:21187
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11028

• NPY methylated ctDNA is a promising biomarker for treatment response monitoring in metastatic colorectal cancer
• Janssens Katleen, Vanhoutte Greetje, Lybaert Willem, Demey Wim, Decaestecker Jochen, Hendrickx Koen, Rezaei Kalantari Hassan, Zwaenepoel Karen, Pauwels Patrick, Fransen Erik, op de Beeck Ken, Van Camp Guy, Rolfo Christian, Peeters Marc

Clinical cancer research - ISSN 1078-0432 - 29:9(2023), p. 1741-1750
Full text (Publisher's DOI): https://doi.org/10.1158/1078-0432.CCR-22-1500
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:22433
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:11415

• Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687
• Huybrechts Yentl, De Ridder Raphaël, Steenackers Ellen, Devogelaer Jean-Pierre, Mortier Geert, Hendrickx Gretl, Van Hul Wim

Calcified tissue international - ISSN 1432-0827 - New york, 113:5(2023), p. 552-557
Full text (Publisher's DOI): https://doi.org/10.1007/s00223-023-01137-5
Full text (Publisher's DOI): https://doi.org/10.1007/S00223-023-01137-5
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:12460

• A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation
• Van Den Heuvel Lotte, Peeters Silke, Meester Josephina, Perik Melanie, Coucke Paul, Loeys Bart
• Stem cell research - ISSN 1876-7753 - 67(2023), 103032
  Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2023.103032
  Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15854

• Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation
• De Kinderen Pauline, Rabaut Laura, Hebert Anne, Ponsaerts Peter, Perik Melanie, Meester Josephina

Stem cell research - ISSN 1876-7753 - 66(2023), 103009
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2022.103009
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15865

• IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
• De Kinderen Pauline, Peeters Silke, Rabaut Laura, Mortier Geert, Ponsaerts Peter, Loeys Bart, Verstraeten Aline, Meester Josephina

Stem cell research - ISSN 1876-7753 - 67(2023), 103024
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2023.103024
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15890

• IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
• De Kinderen Pauline, Rabaut Laura, Perik Melanie, Peeters Silke, Ponsaerts Peter, Loeys Bart, Mortier Geert, Meester Josephina, Verstraeten Aline

Stem cell research - ISSN 1876-7753 - 69(2023), 103080
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2023.103080
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17317

• Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation
• Van Gucht Ilse, Buccioli Lucia, Rabaut Laura, Fedoryshchenko Ivanna, Meester Josephina, Van Laer Lut, Loeys Bart, Verstraeten Aline

Stem cell research - ISSN 1876-7753 - 69(2023), 103061
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2023.103061
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17347

• Pre-clinical modelling of ROS1+ non-small cell lung cancer
• Terrones Bernat Marc, op de Beeck Ken, Van Camp Guy, Vandeweyer Geert

Lung cancer: journal of the International Association for the Study of Lung Cancer / International Association for the Study of Lung Cancer [Aurora, Colo.] - ISSN 1872-8332 - 180(2023), 107192
Full text (Publisher's DOI): https://doi.org/10.1016/J.LUNGCAN.2023.107192
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17550

• Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress
• Fransen Erik, Cassiers Laura, Chubar Viktoriia, Gilles Annick, Van Rompaey Vincent, van der Werf Ilse, Van de Heyning Paul, Claes Stephan, Sabbe Bernard, Kooy Frank, Van Den Eede Filip

Psychiatric genetics - ISSN 1473-5873 - 33:4(2023), p. 134-144
Full text (Publisher's DOI): https://doi.org/10.1097/YPG.0000000000000339
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:17641

• New developments in treating RAS-mutated metastatic colorectal cancer
• Janssens Katleen, Lambrechts Chinouk, Geerinckx Barbara, op de Beeck Ken, Van Camp Guy, Oliveres Helena, Prenen Hans, Vandamme Timon, Peeters Marc

Current treatment options in oncology - ISSN 1534-6277 - New york, Springer, 24:8(2023), p. 965-987
Full text (Publisher's DOI): https://doi.org/10.1007/S11864-023-01095-Y
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:18224
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:9782

• Genetics of otosclerosis : finally catching up with other complex traits?
• Tavernier Lisse, Fransen Erik, Valgaeren Hanne, Van Camp Guy

Human genetics - ISSN 1432-1203 - New york, Springer, 141(2022), p. 939-950
Full text (Publisher's DOI): https://doi.org/10.1007/S00439-021-02357-1
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:4922

• A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
• Hojland Allan Thomas, Tavernier Lisse, Schrauwen Isabelle, Sommen Manou, Topsakal Vedat, Schatteman Isabelle, Dhooge Ingeborg, Huber Alex, Zanetti Diego, Kunst Henricus P.M., Hoischen Alexander, Petersen Michael B., Van Camp Guy, Fransen Erik

Human genetics - ISSN 1432-1203 - New york, Springer, 141:3-4(2022), p. 951-963
Full text (Publisher's DOI): https://doi.org/10.1007/S00439-021-02334-8
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:11037
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:5048

• Plasma membrane perforation by GSDME during apoptosis-driven secondary necrosis
• De Schutter Elke, Ramon Jana, Pfeuty Benjamin, De Tender Caroline, Stremersch Stephan, Raemdonck Koen, op de Beeck Ken, Declercq Wim, Riquet Franck B., Braeckmans Kevin, Vandenabeele Peter

Cellular and molecular life sciences - ISSN 1420-9071 - 79:1(2022), 19
Full text (Publisher's DOI): https://doi.org/10.1007/S00018-021-04078-0
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:10474

• Genome-wide DNA methylation profiling and identification of potential pan-cancer and tumor-specific biomarkers
• Ibrahim Joe, op de Beeck Ken, Fransen Erik, Peeters Marc, Van Camp Guy

Molecular Oncology - ISSN 1878-0261 - Hoboken, 16:12(2022), p. 2432-2447
Full text (Publisher's DOI): https://doi.org/10.1002/1878-0261.13176
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:10565

• Differentiation of induced pluripotent stem cells into chondrocytes : methods and applications for disease modelling and drug discovery
• De Kinderen Pauline, Meester Josephina, Loeys Bart, Peeters Silke, Gouze Elvire, Woods Steven, Mortier Geert, Verstraeten Aline

Journal of bone and mineral research - ISSN 0884-0431 - 37:3(2022), p. 397-410
Full text (Publisher's DOI): https://doi.org/10.1002/JBMR.4524
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:10784
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:6735

• Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes
• Nijak Aleksandra, Simons Eline, Vandendriessche Bert, Van de Sande Dieter, Fransen Erik, Sieliwonczyk Ewa, Van Gucht Ilse, van Craenenbroeck Emeline, Saenen Johan, Heidbüchel Hein, Ponsaerts Peter, Labro Alain, Snyders Dirk, De Vos Winnok, Schepers Dorien, Alaerts Maaike, Loeys Bart

Biology Open (BiO) - ISSN 2046-6390 - 11:2(2022), bio059016
Full text (Publisher's DOI): https://doi.org/10.1242/BIO.059016
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:11003

• ZNF711 puts a spell on DNA
• Kooy Frank

European journal of human genetics / European Society of Human Genetics - ISSN 1476-5438 - London, Springernature, 30:4(2022), p. 396-397
Full text (Publisher's DOI): https://doi.org/10.1038/S41431-022-01048-3
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:11064

• Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis
• Huybrechts Yentl, Boudin Eveline, Hendrickx Gretl, Steenackers Ellen, Hamdy Neveen, Mortier Geert, Martinez Diaz-Guerra Guillermo, Bracamonte Milagros Sierra, Appelman-Dijkstra Natasha M., Van Hul Wim

Genes / Molecular Diversity Preservation International - ISSN 2073-4425 - 13:1(2022), 80
Full text (Publisher's DOI): https://doi.org/10.3390/GENES13010080
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:11181

• Luminescent human iPSC-derived neurospheroids enable modeling of neurotoxicity after oxygen–glucose deprivation
• Van Breedam Elise, Nijak Aleksandra, Buyle-Huybrecht Tamariche, Di Stefano Julia, Boeren Marlies, Govaerts Jonas, Quarta Alessandra, Swartenbroekx Tine, Jacobs Eva Z., Menten Björn, Gijsbers Rik, Delputte Peter, Alaerts Maaike, Hassannia Behrouz, Loeys Bart, Berneman Zwi Nisan, Timmermans Jean-Pierre, Jorens Philippe, Vanden Berghe Tom, Fransen Erik, ...

Neurotherapeutics - ISSN 1878-7479 - 19(2022), p. 550-569
Full text (Publisher's DOI): https://doi.org/10.1007/S13311-022-01212-Z
Full text (Publisher's DOI): https://doi.org/10.1007/s13311-022-01235-6
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:11474
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:6567

• The fibrillinopathies : new insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
• Peeters Silke, De Kinderen Pauline, Meester Josephina, Verstraeten Aline, Loeys Bart

Human mutation - ISSN 1059-7794 - 43:7(2022), p. 815-831
Full text (Publisher's DOI): https://doi.org/10.1002/HUMU.24383
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12625

• Towards kinase inhibitor therapies for Fragile X syndrome : tweaking twists in the autism spectrum kinase signaling network
• D' Incal Claudio, Broos Jitse, Torfs Thierry, Kooy Frank, Vanden Berghe Wim

Cells - ISSN 2073-4409 - Basel, Mdpi, 11:8(2022), 1325
Full text (Publisher's DOI): https://doi.org/10.3390/CELLS11081325
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12083

• Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
• Meuwissen Marije, Verstraeten Aline, Ranza Emmanuelle, Iwaszkiewicz Justyna, Bastiaansen Maaike, Mateiu Ligia, Nemegeer Merlijn, Meester Josephina, Afenjar Alexandra, Amaral Michelle, Ballhausen Diana, Barnett Sarah, Barth Magalie, Asselbergh Bob, Spaas Katrien, Heeman Bavo, Bassetti Jennifer, Blackburn Patrick, Schaer Marie, Blanc Xavier, ...

Genetics in medicine - ISSN 1098-3600 - 24:7(2022), p. 1583-1591
Full text (Publisher's DOI): https://doi.org/10.1016/J.GIM.2022.04.003
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12275

• The role of biglycan in the healthy and thoracic aneurysmal aorta
• Meester Josephina, De Kinderen Pauline, Verstraeten Aline, Loeys Bart

American journal of physiology : cell physiology - ISSN 0363-6143 - 322:6(2022), p. C1214-C1222
Full text (Publisher's DOI): https://doi.org/10.1152/AJPCELL.00036.2022
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12276

• Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
• Meester Josephina, Peeters Silke, Van Den Heuvel Lotte, Vandeweyer Geert, Fransen Erik, Cappella Elizabeth, Dietz Harry C., Forbus Geoffrey, Gelb Bruce D., Goldmuntz Elizabeth, Hoskoppal Arvind, Landstrom Andrew P., Lee Teresa, Mital Seema, Morris Shaine, Olson Aaron K., Renard Marjolijn, Roden Dan M., Singh Michael N., Selamet Tierney Elif Seda, ...

Genetics in medicine - ISSN 1098-3600 - 24:5(2022), p. 1045-1053
Full text (Publisher's DOI): https://doi.org/10.1016/J.GIM.2021.12.015
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12261

• Unravelling the role of cochlin in the innate immune response of the cochlea : impact of noise exposure and pathogenic variants in the **Coch** allele
• Verdoodt Dorien, Van Rompaey Vincent [Supervisor], Ponsaerts Peter [Supervisor], Van Camp Guy [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, Department of Translational Neurosciences, 2022, XVI, 207 p.
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:7168

• Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation
• Simons Eline, Nijak Aleksandra, Loeys Bart, Alaerts Maaike

Stem cell research - ISSN 1876-7753 - 60(2022), 102719
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2022.102719
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12664

• Update on the molecular landscape of thoracic aortic aneurysmal disease
• Luyckx Ilse, Valdivia Callejon Irene, Buccioli Lucia, Loeys Bart

Current opinion in cardiology - ISSN 1531-7080 - Philadelphia, Lippincott williams & wilkins, 37:3(2022), p. 201-211
Full text (Publisher's DOI): https://doi.org/10.1097/HCO.0000000000000954
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:12735

• Persistent microvascular obstruction-like lesion after ventricular tachycardia ablation detected by novel dark-blood late gadolinium enhancement
• Pype Lobke, Holtackers Robert J., Paelinck Bernard, Bekelaar Thalia, Heidbüchel Hein, Van De Heyning Caroline

BJR case reports - ISSN 2055-7159 - 8:3(2022), 20210124
Full text (Publisher's DOI): https://doi.org/10.1259/BJRCR.20210124
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:13034

• Genomics and innovative induced pluripotent stem cell (iPSC) modeling to improve understanding of pathomechanisms underlying Brugada syndrome (BrS)
• Nijak Aleksandra, Loeys Bart [Supervisor], Alaerts Maaike [Supervisor], Labro Alain [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, Department of Medical Genetics, 2022, xvii, 234 p.
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:13085

• Editorial: innovative therapies in bone biology : what can be learned from rare bone diseases?
• Eekhoff Elisabeth M.W., de Vries Teun J., Sakkers Ralph J.B., Van Hul Wim

Frontiers in endocrinology - ISSN 1664-2392 - Lausanne, Frontiers media sa, 13(2022), 928667
Full text (Publisher's DOI): https://doi.org/10.3389/FENDO.2022.928667
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:13554

• Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
• Rodrigues Bento Jotte, Krebsova Alice, Van Gucht Ilse, Valdivia Callejon Irene, van Berendoncks An, Votypka Pavel, Luyckx Ilse, Peldova Petra, Laga Steven, Havelka Marek, Van Laer Lut, Trunecka Pavel, Boeckx Nele, Verstraeten Aline, Macek Milan, Meester Josephina, Loeys Bart

Human mutation - ISSN 1098-1004 - Hoboken, Wiley, 43:12(2022), p. 1824-1828
Full text (Publisher's DOI): https://doi.org/10.1002/HUMU.24433
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:13566

• The genetics and typical traits of thoracic aortic aneurysm and dissection
• Rodrigues Bento Jotte, Meester Josephina, Luyckx Ilse, Peeters Silke, Verstraeten Aline, Loeys Bart

Annual review of genomics and human genetics - ISSN 1545-293X - Palo alto, Annual reviews, 23(2022), p. 223-253
Full text (Publisher's DOI): https://doi.org/10.1146/ANNUREV-GENOM-111521-104455
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14450

• Retrograde Type A aortic dissection 48 Hours after TEVAR in a Patient with a delayed diagnosis of vascular Ehlers-Danlos syndrome
• Diebels Ian, Hendriks Jeroen, Durnez Joke, Paelinck Bernard, El Addouli Haroun, Laga Steven, Loeys Bart

Aorta : official journal of the Aortic Institute at Yale-New Haven Hospital / Science International Corporation; Aortic Institute - ISSN 2325-4637 - 10:03(2022), p. 141-144
Full text (Publisher's DOI): https://doi.org/10.1055/S-0042-1749171
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14625

• Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking
• Huybrechts Yentl, Van Hul Wim

Bone / International Bone and Mineral Society - ISSN 1873-2763 - 164(2022), 116520
Full text (Publisher's DOI): https://doi.org/10.1016/J.BONE.2022.116520
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14718
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:8091

• Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient
• Velchev Joe Davis, Verstraeten Aline, Meester Josephina, Ponsaerts Peter, Richer Julie, Alaerts Maaike, Loeys Bart

Stem cell research - ISSN 1876-7753 - 64(2022), 102932
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2022.102932
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14814

• Rare heterozygous PCSK1 variants in human obesity : the contribution of the p.Y181H variant and a literature review
• Van Dijck Evelien, Beckers Sigri, Diels Sara, Huybrechts Tammy, Verrijken An, van Hoorenbeeck Kim, Verhulst Stijn, Massa Guy, Van Gaal Luc, Van Hul Wim

Genes / Molecular Diversity Preservation International - ISSN 2073-4425 - 13:10(2022), 1746
Full text (Publisher's DOI): https://doi.org/10.3390/GENES13101746
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14719

• Clinical and genomic elucidation of skeletal dysplasias
• Katta Mohan Kumar Girisha, Mortier Geert [Supervisor]

Antwerp, University of Antwerp, Faculty of Medicine & Health Sciences, Department of Medical Genetics, 2022, 190 p.
Full text (publisher's version - intranet only): https://repository.uantwerpen.be/docstore/d:iruaintra:8224

• SMAD6-deficiency in human genetic disorders
• Luyckx Ilse, Verstraeten Aline, Goumans Marie-José, Loeys Bart

Npj genomic medicine - ISSN 2056-7944 - 7:1(2022), 68
Full text (Publisher's DOI): https://doi.org/10.1038/S41525-022-00338-5
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:14963

• Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity : a retrospective cohort study
• Hebert Anne, Simons Annet, Schuurs-Hoeijmakers Janneke H.M., Koenen Hans J.P.M., Zonneveld-Huijssoon Evelien, Henriet Stefanie S.V., Schatorjé Ellen J.H., Hoppenreijs Esther P.A.H., Leenders Erika K.S.M., Janssen Etienne J.M., Santen Gijs W.E., de Munnik Sonja A., van Reijmersdal Simon V., van Rijssen Esther, Kersten Simone, Netea Mihai G., Smeets Ruben L., van de Veerdonk Frank L., Hoischen Alexander, van der Made Caspar I.

eLife - ISSN 2050-084X - 11(2022), e78469
Full text (Publisher's DOI): https://doi.org/10.7554/ELIFE.78469
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15502

• Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy
• Boen Hanne, Loeys Bart, Alaerts Maaike, Saenen Johan, Goovaerts Inge, Van Laer Lut, Vorlat Anne, Vermeulen Tom, Franssen Constantijn, Pauwels Patrick, Rodrigus Inez, Heidbüchel Hein, van Craenenbroeck Emeline

Journal of heart and lung transplantation - ISSN 1557-3117 - 41:9(2022), p. 1218-1227
Full text (Publisher's DOI): https://doi.org/10.1016/J.HEALUN.2022.03.020
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15579

• Targeted resequencing of otosclerosis patients from different populations replicates results from a previous genome-wide association study
• Tavernier Lisse, Vanpoucke Thomas, Schrauwen Isabelle, Van Camp Guy, Fransen Erik

Journal of Clinical Medicine - ISSN 2077-0383 - 11:23(2022), 6978
Full text (Publisher's DOI): https://doi.org/10.3390/JCM11236978
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15630

• Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient
• Perik Melanie, Verstraeten Aline, Nijak Aleksandra, Rabaut Laura, Van Laer Lut, Loeys Bart

Stem cell research - ISSN 1876-7753 - 65(2022), 102956
Full text (Publisher's DOI): https://doi.org/10.1016/J.SCR.2022.102956
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:15976

• Phenotype of COL3A1/COL5A2 deletion patients
• Kempers Marlies J.E., Wessels Marja, van Berendoncks An, van de Laar Ingrid, de Leeuw Nicole, Loeys Bart

European journal of medical genetics - ISSN 1878-0849 - 65:10(2022), 104593
Full text (Publisher's DOI): https://doi.org/10.1016/J.EJMG.2022.104593
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16018

• Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
• Annear Dale, Vandeweyer Geert, Sanchis-Juan Alba, Raymond F. Lucy, Kooy Frank

Genome research - ISSN 1549-5469 - 32:11-12(2022), p. 1967-1980
Full text (Publisher's DOI): https://doi.org/10.1101/GR.277011.122
Full text (open access): https://repository.uantwerpen.be/docstore/d:irua:16927