2021
- Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep. 2021 Jan12;11(1):764. PMID: 33436942 - Persu A, Vikkula M, Loeys B. PTGIR, a susceptibility gene for fibromuscular dysplasia?
Cardiovasc Res. 2021 Jan 4. PMID: 33394030 - Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs A, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijliger M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Jannsens V. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Met. 2021 Feb;23(2):352-362. PMID: 33106617
2020
- Sieliwonczyk E, Alaerts A, Robyns T, Schepers D, Claes C, Corveleyn A, Willems R, Van Craenenbroeck EM, Simons E, Nijak A, Vandendriessche B, Mortier G, Vrints C, Koopman P, Heidbuchel H, Van Laer L, Saenen J, Loeys B. Clinical characterization of the first Belgian SCN5A founder mutation cohort.
Europace. 2020 Nov 22. PMID: 33221854 - Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
J Med Genet. 2020 Sep 8. PMID: 32900841 - Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers, M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L, European/International Fibromuscular Dysplasia Registry and Initiative, Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B. Enrichment of rare variants in Loeys-Dietz syndrome genes in spontaneous coronary artery dissection but not in severe fibromuscular dysplasia.
Circulation. 2020 Sep 8;142(10):1021-1024. PMID: 32897753
- Nijak A, Labro AJ, De Wilde H, Dewals W, Peigneur S, Tytgat J, Snyders D, Sieliwonczyk E, Simons E, Van Craenenbroeck E, Schepers D, Van Laer L, Saenen J, Loeys B, Alaerts M. Compound heterozygous SCN5A mutations in severe sodium channelopathy with Brugada syndrome: a case report.
Front Cardiovasc Med. 2020 Jul 24;7:117. PMID: 32850980
- Kram V, Shainer R, Jani P, Meester JAN, Loeys B, Young MF. Biglycan in the skeleton.
J Histochem Cytochem. 2020 Jul 6:2215542093731. PMID: 32623936 - Van Driest SL, Sleeper LA, Gelb BD, Morris SA, Dietz HC, Forbus GA, Goldmuntz E, Hoskoppal A, James J, Lee TM, Levine JC, Li JS, Loeys BL, Markham LW, Meester JAN, Mital S, Mosley JD, Olson AK, Renard M, Shaffer CM, Sharkey A, Young L, Lacro RV, Roden DM. Variants in ADRB1 and CYP2C9: Association with response to atenolol and losartan in Marfan syndrome.
J Pediatr. 2020 Jul;222:213-220.e5. PMID: 32586526 - Verstraeten A, Meester J, Peeters S, Mortier G, Loeys B. Chondrodysplasias and aneurysmal thoracic aortopathy: An emerging tale of molecular intersection.
Trends Mol Med. 2020 Aug;26(8):783-795. PMID: 32507656 - Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Wilde AA, Tanck MWT, Bezzina CR et al. Transethnic genome-wide associations study provides insights in the genetic architecture and heritability of long QT syndrome.
Circulation. 2020 Jul 28;142(4):324-338. PMID: 32429735 - Barallobre-Barreiro J, Loeys B, Mayr M, Rienks M, Verstraeten A, Kovacic JC. Extracellular matrix in vascular disease, Part 2/4: JACC focus seminar.
J Am Coll Cardiol. 2020 May 5;75(17):2189-2203. PMID: 32354385 - Velchev JD, Verstraeten A, Loeys B. Hide and seek: Somatic SMAD3 mutations in melorheostosis.
J Exp Med. 2020 May 4;217(5). PMID: 32289153 - Bons LR, Geenen LW, van den Hoven AT, Dik WA, van den Bosch AE, Duijnhouwer AL, Siebelink HJ, Budde RPJ, Boersma E, Wessels MW, van de Laar IMBH, DeRuiter MC, Goumans MJ, Loeys BL, Roos-Hesselink JW. Blood markers in patients with bicuspid aortic valve disease.
J Cardiol. 2020 Apr 4. PMID: 32265086 - Grattan M, Prince A, Ruman R, Morgan C, Petrovic M, Hauck A, Young L, Franco-Cereceda A, Loeys B, Mohamed SA, Dietz H, Mital S, Fan CS, Manlhiot C, Andelfinger G, Mertens L. Predictors of bicuspid aortic valve-associated aortopathy in childhood: a report from the MIBAVA consortium.
Circ Cardiovasc Imaging. 2020 Mar;13(3). PMID: 32178537 - Verdonschot JAJ, Vanhoutte EK, Claed GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. A mutations update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat. 2020 Feb 29. PMID: 32112656 - Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium prinsicpal investigators, Elpeleg O, Hitz MP, Andelfinger G. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Nat Genet. 2020 Jan;52(1):40-47. PMID: 31844321
2019
- van de Laar IMBH, Arbustini E, Loeys B, Björk E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixido-Tura G, Robert L, Emmanuel Y, Evangelista A, Pini A, Von Kodolitsch Y, Jondeau G, De Backer J. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
Orphanet J Rare Dis. 2019 Nov 21;14(1). PMID: 31752940
- Brouwer C, Bulut H, van Gemert W, Staal AH, Cortenbach K, Snoeren M, Nijveldt R, Duijnhouwer A, Loeys BL, van Royen N, Timmermans J, van Kimmenade RR. Progressive pulmonary artery dilatation is associated with type B aortic dissection in patients with Marfan syndrome.
J Clin Med. 2019 Nov 2:8(11). PMID: 31684091 - Alaerts M, van de Beek G, Luyckx I, Meester J, Schepers D, Verstraeten A, Saenen J, Van Craenenbroeck E, Goovaerts I, Rodrigus I, Laga S, Hendriks J, Goethals S, De Wilde A, Smits E, Jorens P, Huizing M, Van Laer L, Loeys B. Cardiogeneticsbank@UZA: a collection of DNA, tissues and cell lines as a translational tool.
Front Med (Lausanne). 2019 Sep 6;6:198. PMID: 31555651 - Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M, Baeke F, Hoebeke P, Plasschaert F, Loeys B, De Schepper S, Symoens S, Callewaert B. Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome: two new cases and review of literature.
Genes. 2019 Jul 12;10(7). PMID: 31336972 - De Backer J, Bondue A, Budts W, Evangelista A, Gallego P, Jondeau G, Loeys B, Pena ML, Teixido-Tura G, van de Laar I, Verstraeten A, Roos Hesselink J. Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
Eur J Prev Cadiol. 2019 Jun 11. PMID: 31184212 - Ciurica S, Lopez-Sublet M, Loeys BL, Radhouani I, Natarajan N, Vikkula M, Maas AHEM, Adlam D, Persu A. Arterial Tortuosity.
Hypertension. 2019 May;73(5):951-960. PMID: 30852920 - Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL, MIBAVA Leducq Consortium (Zhurayev R, Zerbino D, Mital S, Mertens L, Franco-Cereceda A, Verhagen JMA, van de Laar IMBH, Wessels MW, Nemcikova M, Krebsova A). Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Eur J Hum Genet. 2019 Feb 28. PMID: 30820038 - Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweryer G, Van Lent S, Saenen J, Van Craenenbroeck E, Timmermans J, Duijnhouwer A, Dietz H, Van Laer L, Loeys B, Verstraeten A. Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Eur J Hum Genet. 2019 Feb 22. PMID: 30796334 - Piché J, Gosset N, Legault LM, Pacis A, Oneglia A, Caron M, Chetaille P, Barreiro L, Liu D, Qi X, Nattel S, Leclerc S, Breton-Larrivée M, CoHEART Consortium (Andelfinger G, Bakkers J, Loeys B, Pucéat M), McGraw S, Andelfinger G. Molecular signature of CAID syndrome: noncanonical roles of SGO1 in regulation of TGF-β signaling and epigenomics.
Cell Mol Gastroenterol Hepatol. 2019;7(2):411-431. PMID: 30739867 - Balasubramanian M, Verschueren A, Kleevens S, Luyckx I, Perik M, Schirwani S, Mortier G, Morisaki H, Rodrigus I, Van Laer L, Verstraeten A, Loeys B. Aortic aneurysm/dissection and osteogeneiss imperfecta: Four new families and review of the literature.
Bone. 2019 Apr;121:191-195. PMID: 30684648 - Yan J, Lehsau AC, Sauer B, Pieper B, Mohamed SA, MIBAVA Leducq Consortium members (Loeys BL, Dietz HC, Van Laer L, McCallion A, Eriksson P, Frankco-Cereceda A, Mertens L, Mital S, Andelfinger G). Comparison of biomechanical properties in ascending aortic aneurysms of patients with congentical bicuspid aortic valve and Marfan syndrome.
Int J Cardiol. 2019 Mar 1;278:65-69. PMID: 30527531 - Meester JAN, Verstraeten A, Alaerts M, Schepers D, Van Laer L, Loeys BL. Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
Clin Genet. 2019 Jan;95(1):85-94. PMID: 29767458 - Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstreaten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennet CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Baylor-Hopkins Center for Mendelian Genomics, MIBAVA Leducq Consortium, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
Nat Genet. 2019 Jan;51(1):42-50. PMID: 30455415
2018
- Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A. Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
Eur J Med Genet. 2018 Jan;61(1):8-10. PMID: 29024827
- Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med. 2018 Oct;20(10):1236-1245. PMID: 29323665 - Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat. 2018 May;39(5):621-634. PMID: 29392890 - Kumar AA, Van Laer L, Alaerts M, Ardeshirdavani A, Moreau Y, Laukens K, Loeys B, Vandeweyer G, Birol I. pBRIT: Gene Prioritization by Correlating Functional and Phenotypic Annotations Through Integrative Data Fusion.
Bioinformatics. 2018 Jul;34(13):2254-2262. PMID: 29452392
- Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Int J Cardiol. 2018 May;258:243-248. PMID: 29452988
- Björck HM, Du L, Pulignani S, Paloschi V, Lundströmer K, Kostina AS, Österholm C, Malashicheva A, Kostareva A, Evangelista A, Teixidó-Tura G, Maleki S, Franco-Cereceda A, Eriksson P; Mechanistic Interrogation of Bicuspid Aortic Valve associated Aortopathy (MIBAVA) Leducq Consortium. Altered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve.
Sci Rep. 2018 Feb 9;8(1):2777. PMID: 29426841 - Ergoren MC, Turkgenc B, Teralı K, Rodopluu O, Verstraeten A, Van Laer L, Mocan G, Loeys B, Tetik O, Temel SG. Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Connect Tissue Res. 2018 May 28:1-9. PMID: 29732924
- Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay E, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissections
J Am Coll Cardiol. 2018 Aug;72(6):605-615. PMID: 30071989 - Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Hum Mutat. 2018 Sep;39(9):1246-1261. PMID: 29924900 - Luyckx I, Bolar N, Diness BR, Hove HB, Verstraeten A, Loeys BL. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.
Eur J Med Genet. 2018 Jun 12. doi: 10.1016/j.ejmg.2018.06.008. [Epub ahead of print]. PMID: 29906517 - Vandeloo B, Azzano A, Schoors D, Verstraeten A, Van Laer L, Loeys B, Vermeersch P. Spontaneous coronary artery dissection in a man with a novel missense mutation in SMAD2 treated by optical cohorence tomography-guided percutaneous coronary intervention.
JACC Cardiovasc Interv. 2018 Nov 6. doi: 10.1016/j.jcin.2018.09.007. [Epub ahead of print]. PMID: 30448172 - Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
BMC Med Genet. 2018 Sep;19(1):170. PMID: 30219046
- Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van de Beek G, Khung-Savatovsky S, Belarbi N, Capri Y, Delezoide AL, Loeys B, Guimiot F. Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2.
Mol Syndromol. 2018 Jul;9(4):190-196. PMID: 30140196 - Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
BMC Med Genet. 2018 Aug;19(1):140. PMID: 30089473 - Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR. Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities.
Am J Hum Genet. 2018 Aug;103(2):288-295. PMID: 30032985 - Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
J Med Genet. 2018 Jul 2. doi: 10.1136/jmedgenet-2018-105304. PMID: 29967133
2017
- Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
Clin Genet. 2017 Mar;91(3):411-25. PMID: 27582382 - Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med. 2017 Apr;19(4):386-95. PMID: 27632686
- Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med. 2017 Apr;19(4):386-95. PMID: 27632686 - Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet. 2017 Feb;49(2):238-248. PMID: 28067909
- Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy.
Nat Rev Cardiol. 2017 Apr;14(4):197-208. PMID: 28102232 - Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I. Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin Genet. 2017 Sep;92(3):342-343. PMID: 28369852 - Proost D, Saenen J, Vandeweyer G, Rotthier A, Alaerts M, Van Craenenbroeck EM, Van Crombruggen J, Mortier G, Wuyts W, Vrints C, Del Favero J, Loeys B, Van Laer L. Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
J Mol Diagn. 2017 May;19(3):445-59. PMID: 28341588 - Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Eur J Med Genet. 2017 Sep;60(9):465-473. PMID: 28642162 - Gillis, E., Kumar, AA., Luyckx, I., Preuss, C., Cannaerts, E., van de Beek, G., Wieschendorf, B., Alaerts, M., Bolar, N., Vandeweyer, G., Meester, J., Wünnemann, F., Gould, R., Zhurayev, R., Zerbino, D., Mohamed, SA., Mital, S., Mertens, L., Björck, HM., Franco-Cereceda, A., McCallion, AS., Van Laer, L., Verhagen, JMA., van de Laar, IMBH., Wessels, MW., Messas, E., Goudot, G., Nemcikova, M., Krebsova, A., Kempers, M., Salemink, S., Duijnhouwer, T., Jeunemaitre, X., Albuisson, J., Eriksson, P., Andelfinger, G., Dietz, HC., Verstraeten, A., Loeys, BL. Candidate Gene Resequencing In A Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 As An Important Contributor.
Front Physiol. 2017 Jun;8:400. PMID: 28659821 - Luyckx, I., Proost, D., Hendriks, J.M.H., Saenen, J., Van Craenenbroeck, E.M., Vermeulen, T., Peeters, N., Wuyts, W., Rodrigus, I., Verstraeten, A., Van Laer, L., Loeys, B.L. Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
Clin Genet. 2017 Oct;92(4):444-446. PMID: 28401540 - van den Hoven AT, Chelu RG, Duijnhouwer AL, Demulier L, Devos D, Nieman K, Witsenburg M, van den Bosch AE, Loeys BL, van Hagen IM, Roos-Hesselink JW. Partial anomalous pulmonary venous return in Turner syndrome.
Eur J Radiol. 2017 Oct;95:141-146. PMID: 28987660 - Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.
Ann Cardiothorac Surg. 2017 Nov;6(6):582-594. PMID: 29270370
2016
- Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.
Eur J Hum Genet. 2016 Jan;24(1):e1-5. PMID: 26508578
- Duijnhouwer AL, Navarese EP, Van Dijk AP, Loeys B, Roos-Hesselink JW, De Boer MJ. Aneurysm of the Pulmonary Artery, a Systematic Review and Critical Analysis of Current Literature.
Congenit Heart Dis. 2016 Mar-Apr;11(2):102-9. PMID: 26555132 - Bowdin SC, Laberge AM, Verstraeten A, Loeys BL. Genetic Testing in Thoracic Aortic Disease-When, Why, and How?
Can J Cardiol. 2016 Jan;32(1):131-4. PMID: 26604122 - Andelfinger G., Loeys B., Dietz H. A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.
Can J Cardiol. 2016 Jan;32(1):13-25. PMID: 26724507 - Verstraeten A, Alaerts M, Van Laer L, Loeys B. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Hum Mutat. 2016 Jun;37(6):524-31. PMID: 26919284 - Micheal S, Khan MI, Islam F, Akhtar F, Qamar R, Tassignon MJ, Loeys B, den Hollander AI. Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Cornea. 2016 Jun;35(6):853-9. PMID: 27032025
- Loeys B. The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?
Eur Heart J. 2016 Nov:37(43):3291-3. PMID: 27099264 - Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, De Sandre-Giovannoli A, López-Otín C. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
J Med Genet. 2016 Nov;53(11):776-85. PMID: 27334370 - Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet. 2016 Jul;99(1):174-87. PMID: 27392076 - Zhurayev R, Proost D, Zerbino D, Fedorenko V, Meester JA, Van Laer L, Loeys BL. Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Genet Res (Camb). 2016 Oct 11;98:e13. PMID: 27724990
- El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
Eur J Hum Genet. 2016 Jan;25(1):43-51. PMID: 27804958 - Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet. 2016 Nov;99(5):1206-1216. PMID: 27843126
2015
- Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Eur J Hum Genet. 2015 Feb;23(2):224-85. PMID: 24736733
- Saenen JB, Van Craenenbroeck EM, Proost D, Marchau F, Van Laer L, Vrints CJ, Loeys BL. Genetics of sudden cardiac death in the young.
Clin Genet. 2015 Aug;88(2):101-13. PMID: 25307320 - Loeys BL. Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?
Drug Discov Today. 2015 Feb;20(2):262-266. PMID: 25281853 - Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P. Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Hum Mol Genet. 2015 Feb 15;24(4):1106-18. PMID: 25305082 - Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM van de Beek, Elena Gallo G, Kruithof BPT, Venselaar H, Myers L, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Mutations in a TGF-β Ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
J Am Coll Cardiol. 2015 Apr;65(13):1324-1336. PMID: 25835445 - Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC. The neuromuscular differential diagnosis of joint hypermobility.
Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):23-42. PMID: 25821091 - Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, Van Laer L. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Hum Mutat. 2015 Aug;36(8):808-14. PMID: 25907466
- Pitcher A, Emberson J, Lacro RV, Sleeper LA, Stylianou M, Mahony L, Pearson GD, Groenink M, Mulder BJ, Zwinderman AH, De Backer J, De Paepe AM, Arbustini E, Erdem G, Jin XY, Flather MD, Mullen MJ, Child AH, Forteza A, Evangelista A, Chiu HH, Wu MH, Sandor G, Bhatt AB, Creager MA, Devereux RB, Loeys B, Forfar JC, Neubauer S, Watkins H, Boileau C, Jondeau G, Dietz HC, Baigent C. Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.
Am Heart J. 2015 May;169(5):605-12. PMID: 25965707 - Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. ClinGen--the Clinical Genome Resource.
N Engl J Med. 2015 Jun;372(23): 2235-42. PMID: 26014595 - Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet. 2015 Aug;97(2):343-52. PMID: 26235985 - Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Am J Hum Genet. 2015 Sep;97(3):475-82. PMID: 26299364 - Luyckx I, Loeys BL. Curriculum topic: Disease of the aorta and trauma to the aorta and heart. The genetic architecture of non-syndromic thoracic aortic aneurysm.
Heart. 2015 Oct;101(20):1678-84. PMID: 26355078 - Makrygiannis G, Loeys B, Defraigne JO, Sakalihasan N. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
Eur J Med Genet. 2015 Nov;58(11):634-6. PMID: 26497932 - Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.
Elife. 2015 Oct 27;4. pii: e08648. PMID: 26506064 - Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet. 2015 Nov;97(5):761-8. PMID: 26522469 - Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B. TGF-β signalopathies as a paradigm for translational medicine.
Eur J Med Genet. 2015 Dec;58(12):695-703. PMID: 26598797
2014
- Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet. 2014 Jan;51(1):21-7. PMID: 24133203 - Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA. A dominant-negative GFI1B mutation in the gray platelet syndrome.
N Engl J Med. 2014 Jan;370(3): 245-53. PMID: 24325358 - Gillis E, Kempers M, Salemink S, Timmermans J, Cheriex EC, Bekkers SC, Fransen E, De Die-Smulders CE, Loeys BL, Van Laer L. An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
Hum Mutat. 2014 May;35(5):571-4. PMID: 24610719 - Van Laer L, Dietz H, Loeys B. Loeys-Dietz syndrome.
Adv Exp Med Biol. 2014;802:95-105. PMID: 24443023 - Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Van Laer L, Kogon B. Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Eur J Pediatr. 2014 May;173(5): 671-5. PMID: 24276535 - Renard M, Trachet B, Casteleyn C, Campens L, Cornillie P, Callewaert B, Deleye S, Vandeghinste B, van Heijningen PM, Dietz H, De Vos F, Essers J, Staelens S, Segers P, Loeys B, Coucke P, De Paepe A, De Backer J. Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.
PLoS One. 2014 Feb 24;9(2):e89749. PMID: 24587008 - MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC. Loeys-Dietz syndrome: a primer for diagnosis and management.
Genet Med. 2014 Aug;16(8):576-87. PMID: 24577266 - Ramaekers P, Loeys B, von Lowtzow C, Reutter H, Leroy Y, Colpaert C, Blaumeiser B, Janssens K, Parizel M, Jacquemyn Y. Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?
Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):797-800. PMID: 25200913
- Vandeweyer G, Van Laer L, Loeys B, Van den Bulcke T, Kooy RF. VariantDB: a flexible annotation and filtering portal for next generation sequencing data.
Genome Med. 2014 Oct 2;6(10):74. PMID: 25352915 - Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators. Atenolol versus losartan in children and young adults with Marfan's syndrome.
N Engl J Med. 2014 Nov;371(22):2061-71. PMID: 25405392
2013
- Van Laer L, Proost D, Loeys BL. Connective tissue disorders with vascular involvement: from gene to therapy.
Eur J Pediatr. 2013 Aug;172(8):997-1005. PMID: 22801769 - Vallaeys L, Van Biervliet S, De Bruyn G, Loeys B, Moring AS, Van Deynse E, Cornette L. Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.
Eur J Pediatr. 2013 Mar;172(3):409-11. PMID: 2284330 - van Kimmenade RR, Kempers M, de Boer MJ, Loeys BL, Timmermans J. A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome.
Genet Med. 2013 Jul;15(7)528-32. PMID: 23306803 - Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Hum Mol Genet. 2013 Jul 1;22(13):2590-602. PMID: 23462291 - Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype.
Am J Med Genet A. 2013 May;161A(5):1028-35. PMID: 23554019
- Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, Markham LW, Paridon SM, Pierpont ME, Radojewski E, Selamet Tierney ES, Sharkey AM, Wechsler SB, Mahony L; Pediatric Heart Network Investigators. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
Am Heart J. 2013 May;165(5):828-835. PMID: 23622922 - Loeys BL, Mortier G, Dietz HC. Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.
Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:417-23. PMID: 23858625 - Gillis E, Van Laer L, Loeys BL. Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.
Circ Res. 2013 Jul;113(3):327-40. PMID: 23868829 - Haerynck F, Mahachie John JM, Van Steen K, Schelstraete P, Van Daele S, Loeys B, Van Thielen M, De Canck I, Nuytinck L, De Baets F. Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients.
Hum Immunol. 2013 Dec;74(12):1649-55. PMID: 23994582 - McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
Bonekey Rep. 2013 Dec;2:456. PMID: 24501682
2012
- Möberg K, De Nobele S, Devos D, Goetghebeur E, Segers P, Trachet B, Vervaet C, Renard M, Coucke P, Loeys B, De Paepe A, De Backer J. The Ghent Marfan Trial - A randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.
Int J Cardiol. 2012 Jun 14;157(3):354-8. PMID: 21239069 - Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert B, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson P, De Backer J, Coucke P, Francke U, Bouchot O, Wolf J, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G. The new Ghent criteria for Marfan syndrome: what do they change?
Clin Genet. 2012 May;81(5):433-42. PMID: 21564093 - R. Pyeritz and B. Loeys. The 8th International Research Symposium on the Marfan Syndrome and Related Conditions.
Am J Med Genet. 2012 Jan;158A(1):42-9. PMID: 22140025 - Vergult S, Dauber A, Chiaie BD, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA 3rd, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B. 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
Eur J Hum Genet. 2012 May;20(5):534-539. PMID: 22166941 - D van der Linde, I.M.B.H. van de Laar, A.M. Bertoli-Avella, R.A. Oldenburg, J.A. Bekkers, F.U.S. Mattace-Raso, A.H. van den Meiracker, A. Moelker, F. van Kooten, I.M.E. Frohn-Mulder, J. Timmermans, E. Moltzer, J.M. Cobben, L. Van Laer, B. Loeys, J. De Backer, P.J. Coucke, Anne De Paepe, Y. Hilhorst-Hofstee, M.W. Wessels, J.W. Roos-Hesselink. Aggressive cardiovascular phenotype of Aneurysms-Osteoarthritis syndrome caused by pathogenic SMAD3 variants.
J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. PMID: 22633655 - I.M.B.H. van de Laar, D. van der Linde, E.H.G. Oei, P.K. Bos, J.H. Bessems, S.M. Bierma- Zeinstra, B.L. van Meer, G. Pals, R.A. Oldenburg, J.A. Bekkers, A. Moelker, B. de Graaf, G. Matyas, I.M.E. Frohn-Mulder, J. Timmermans, Y. Hilhorst-Hofstee, J.M. Cobben, H.T. Bruggenwirth, L. Van Laer, B. Loeys, J. De Backer, P.J. Coucke, H.C. Dietz, P.J. Willems, B. A. Oostra, A. De Paepe, J.W. Roos-Hesselink, A.M. Bertoli-Avella, M.W. Wessels. The phenotypic spectrum of the SMAD3-related Aneurysms- Osteoarthritis Syndrome.
J Med Genet. 2012 Jan;49(1):47-57. PMID: 22167769
- P. Ostergaard, MA. Simpson, A. Mendola, P. Vasudevan, FC. Connell, A. van Impel, AT. Moore, BL. Loeys, A. Ghalamkarpour, A. Onoufriadis, I. Martinez-Corral, S. Devery, JG Leroy, L. van Laer, A. Singer, MG. Bialer, M. McEntagart, O. Quarrell, G. Brice, RC Trembath, S. Schulte-Merker, T. Makinen, M. Vikkula, PS. Mortimer, S. Mansour, S. Jeffery. Mutations in KIF11 cause autosomal dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet. 2012 Feb 10;90(2):356-362. PMID: 22284827 - Bolar N, Van Laer L, Loeys BL. Marfan syndrome: from gene to therapy.
Curr Opin Pediatr. 2012 Aug;24(4):498-504. PMID: 22705998 - Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat Genet. 2012 Jul 8;44(8):922-7. PMID: 22772368
- Eshraghian A, Loeys B. Loeys-Dietz syndrome: a possible solution for Akhenaten's and his family's mystery syndrome.
S Afr Med J. 2012 Jun 14;102(8):661-4. PMID: 22831939
- Haerynck F, Van Steen K, Cattaert T, Loeys B, Van Daele S, Schelstraete P, Claes K, Van Thielen M, De Canck I, Mahachie John JM, De Baets F. Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients.
Hum Immunol. 2012 Nov;73(11):1175-83. PMID: 22940091 - Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion A, Loeys B, Dietz HC. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Nat Genet. 2012 Nov;44(11):1249-1254. PMID: 23023332
2011
- Cozijnsen L, Braam RL, Waalewijn RA, Schepens MA, Loeys BL, van Oosterhout MF, Barge-Schaapveld DQ, Mulder BJ. What is new in dilatation of the ascending aorta ?: review of current literature and practical advice for the cardiologist.
Circulation. 2011;123(8):924-8. PMID: 21357847
- Li-Wan-Po A, Loeys B, Farndon P, Latham D, Bradley C. Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine.
Br J Clin Pharmacol. 2011 Jul;72(1):6-17. PMID: 21276043 - Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas CJ, Patnaik S, Marugan JJ, Judge DP, Dietz HC. Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice.
Science. 2011 Apr 15;332(6027):358-61. PMID: 21493862 - Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid BM, Sharkey F, Joss S, Mortier G, Menten B. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
Eur J Hum Genet. 2011 Oct;19(10):1032-7. PMID: 21505450
- Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Hum Mutat. 2011 Sep;32(9):1053-62. PMID: 21542060
- Trachet B, Renard M, De Santis G, Staelens S, De Backer J, Antiga L, Loeys B, Segers P. An Integrated Framework to Quantitatively Link Mouse-Specific Hemodynamics to Aneurysm Formation in Angiotensin II-infused ApoE -/- mice.
Ann Biomed Eng. 2011; 39(9):2430-2444. PMID: 21614649 - Renard M, Callewaert B, Baetens M, Campens L, Macdermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
Int J Cardiol. 2013 May 10;165(2):314-21. PMID: 21937134
- Trachet B, Bols J, De Santis G, Vandenberghe S, Loeys B, Segers P. The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data.
J Biomech Eng. 2011 Dec;133(12):121006. PMID: 22206423