A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract. Jarayseh T, Guillemyn B, De Saffel H, Bek JW, Syx D, Symoens S, Gansemans Y, Van Nieuwerburgh F, Jagadeesh S, Raja J, Malfait F, Coucke PJ, De Clercq A, Willaert A. Hum Genet. 2023 Jan 25. doi: 10.1007/s00439-022-02518-w. Epub ahead of print. PMID: 36697720.
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome. Nikpour M, Noborn F, Nilsson J, Van Damme T, Kaye O, Syx D, Malfait F, Larson G. JIMD Rep. 2022 Jun 28;63(5):462-467. doi: 10.1002/jmd2.12311. PMID: 36101818; PMCID: PMC9458601.
The Impact of Hypermobile "Ehlers-Danlos Syndrome" and Hypermobile Spectrum Disorder on Interpersonal Interactions and Relationships. De Baets S, De Temmerman M, Calders P, Malfait F, Van Hove G, Vanderstraeten G, De Wandele I, Van de Velde D. Front Rehabil Sci. 2022 Apr 11;3:832806. doi: 10.3389/fresc.2022.832806. PMID: 36188999; PMCID: PMC9397711.
Bone Mass, Density, Geometry, and Stress-Strain Index in Adults With Osteogenesis Imperfecta Type I and Their Associations With Physical Activity and Muscle Function Parameters. Coussens M, Lapauw B, Verroken C, Goemaere S, De Wandele I, Malfait F, Banica T, Calders P. J Bone Miner Res. 2022 Dec;37(12):2456-2465. doi: 10.1002/jbmr.4722. Epub 2022 Nov 5. PMID: 36239015.
Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: A comparative cross-sectional study. Coussens M, Banica T, Lapauw B, De Wandele I, Rombaut L, Malfait F, Calders P. Bone. 2023 Jan;166:116583. doi: 10.1016/j.bone.2022.116583. Epub 2022 Oct 13. PMID: 36243401.
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: further insights into the phenotypic spectrum and pathogenic mechanisms. Colman M, Vroman R, Dhooge T, Malfait Z, Symoens S, Burnyté B, Nampoothiri S, Kariminejad A, Malfait F, Syx D. Hum Mutat. 2022 Sep 2. doi: 10.1002/humu.24456. Epub ahead of print. PMID: 36054293.
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman- van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos Syndromes. Syx D, Delbaere S, Bui C, De Clercq A, Larson G, Mizumoto S, Kosho T, Fournel-Gigleux S, Malfait F. Am J Physiol Cell Physiol. 2022 Aug 22. doi: 10.1152/ajpcell.00127.2022. Epub ahead of print. PMID: 35993517.
Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls. De Baets S, Cruyt E, Calders P, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, van De Velde D. PLoS One. 2022 Jun 16;17(6):e0269608. doi: 10.1371/journal.pone.0269608. PMID: 35709306; PMCID: PMC9202833.
Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers- Danlos syndrome/hypermobility spectrum disorders. Spanhove V, De Wandele I, Malfait F, Calders P, Cools A. A randomized trial. Disabil Rehabil. 2022 May 24:1-11. doi: 10.1080/09638288.2022.2076932. Epub ahead of print. PMID: 35609204.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):46-62. doi: 10.55563/clinexprheumatol/kzkq6y. Epub 2022 May 18. PMID: 35587586.
Altered Multisegment Ankle and Foot Kinematics During Gait in Patients With Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder: A Case-Control Study. Vermeulen S, De Mits S, De Ridder R, Calders P, De Schepper J, Malfait F, Rombaut L. Arthritis Care Res (Hoboken). 2022 May;74(5):841-848. doi: 10.1002/acr.24526. Epub 2022 Mar 17. PMID: 33275840.
Electromyographic Muscle Activity and Three-Dimensional Scapular Kinematics in Patients With Multidirectional Shoulder Instability: A Study in the Hypermobile Type of the Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders. Spanhove V, Calders P, Berckmans K, Palmans T, Malfait F, Cools A, De Wandele I. Arthritis Care Res (Hoboken). 2022 May;74(5):833-840. doi: 10.1002/acr.24525. Epub 2022 Mar 24. PMID: 33253470.
Editorial: Molecular Mechanisms of Heritable Connective Tissue Disorders. Malfait F, Forlino A, Sengle G, Van Agtmael T. Front Genet. 2022 Apr 27;13:866665. doi: 10.3389/fgene.2022.866665. PMID: 35571027; PMCID: PMC9091304.
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control study. De Wandele I, Colman M, Hermans L, Van Oosterwijck J, Meeus M, Rombaut L, Brusselmans G, Syx D, Calders P, Malfait F. Eur J Pain. 2022 Apr 20. doi: 10.1002/ejp.1956. Epub ahead of print. PMID: 35442549.
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET. Talarico R, Aguilera S, Alexander T, Amoura Z, Andersen J, Arnaud L, Avcin T, Marsal Barril S, Beretta L, Bombardieri S, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Corti P, Costedoat- Chalumeau N, Dāvidsone Z, Doria A, Fenech C, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Guimarães V, Hachulla E, Holmner M, Houssiau F, Iaccarino L, Jacobsen S, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Milas-Ahić J, Moinzadeh P, Montecucco C, Mouthon L, Müller-Ladner U, Nagy G, Patarata E, Pileckyte M, Pruunsild C, Rednic S, Romão VC, Schneider M, Scirè CA, Smith V, Sulli A, Tamirou F, Tani C, Taruscio D, Taulaigo AV, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Viera A, de Vries-Bouwstra JK, Zschocke J, Cutolo M, Mosca M. Clin Exp Rheumatol. 2022 Mar 29. doi: 10.55563/clinexprheumatol/d2qz38. Epub ahead of print. PMID: 35349419.
Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder. Coussens M, Lapauw B, Banica T, De Wandele I, Pacey V, Rombaut L, Malfait F, Calders P. J Musculoskelet Neuronal Interact. 2022 Mar 1;22(1):5-14. PMID: 35234154; PMCID: PMC8919651.
The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism. Van Damme T, Colman M, Syx D, Malfait F. Genes (Basel). 2022 Jan 29;13(2):265. doi: 10.3390/genes13020265. PMID: 35205310; PMCID: PMC8872221.
Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome. Omar R, Malfait F, Van Agtmael T. Matrix Biol Plus. 2021 Nov 9;12:100090. doi: 10.1016/j.mbplus.2021.100090. PMID: 34849481; PMCID: PMC8609142.
Pain in the Ehlers-Danlos syndromes: Mechanisms, models, and challenges. Malfait F, Colman M, Vroman R, De Wandele I, Rombaut L, Miller RE, Malfait AM, Syx D. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):429-445. doi: 10.1002/ajmg.c.31950. Epub 2021 Nov 19. PMID: 34797601.
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen. Dhooge T, Syx D, Hermanns-Lê T, Hausser I, Mortier G, Zonana J, Symoens S, Byers PH, Malfait F. Genet Med. 2021 Dec;23(12):2378-2385. doi: 10.1038/s41436-021-01274-y. Epub 2021 Jul 16. PMID: 34272483.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. J Med Genet. 2021 Nov 23:jmedgenet-2020-107623. doi: 10.1136/jmedgenet-2020-107623. Epub ahead of print. PMID: 34815299.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta. Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics, Byers PH. HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. PMID: 35047842; PMCID: PMC8756491.
Animal Models of Ehlers- Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential. Vroman R, Malfait AM, Miller RE, Malfait F, Syx D. Front Genet. 2021 Oct 12;12:726474. doi: 10.3389/fgene.2021.726474. PMID: 34712265; PMCID: PMC8547655.
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome. Colman M, Syx D, De Wandele I, Dhooge T, Symoens S, Malfait F. Hum Mutat. 2021 Oct;42(10):1294-1306. doi: 10.1002/humu.24258. Epub 2021 Jul 26. PMID: 34265140.
Does Muscle Strength Change Over Time in Patients With Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder? An Eight- Year Follow-Up Study. Coussens M, Calders P, Lapauw B, Celie B, Banica T, De Wandele I, Pacey V, Malfait F, Rombaut L. Arthritis Care Res (Hoboken). 2021 Jul;73(7):1041-1048. doi: 10.1002/acr.24220. Epub 2021 Jun 18. PMID: 32293111.
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F. Hum Mutat. 2021 Jun;42(6):711-730. doi: 10.1002/humu.24199. Epub 2021 Apr 6. PMID: 33739556.
Loss of TANGO1 Leads to Absence of Bone Mineralization. Guillemyn B, Nampoothiri S, Syx D, Malfait F, Symoens S. JBMR Plus. 2021 Jan 13;5(3):e10451. doi: 10.1002/jbm4.10451. PMID: 33778321; PMCID: PMC7990155.
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET. Talarico R, Aguilera S, Alexander T, Amoura Z, Antunes AM, Arnaud L, Avcin T, Beretta L, Bombardieri S, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Costedoat-Chalumeau N, Doria A, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Grunert J, Guimarães V, Hachulla E, Houssiau F, Iaccarino L, Krieg T, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Montecucco C, Mouthon L, Müller-Ladner U, Rednic S, Romão VC, Schneider M, Smith V, Sulli A, Tamirou F, Taruscio D, Taulaigo AV, Terol E, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Vieira A, de Vries-Bouwstra JK, Cutolo M, Mosca M. Nat Rev Rheumatol. 2021 Mar;17(3):177-184. doi: 10.1038/s41584-020-00565-z. Epub 2021 Jan 6. PMID: 33408338; PMCID: PMC7786339.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta. Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F. PLoS Genet. 2021 Feb 1;17(2):e1009339. doi: 10.1371/journal.pgen.1009339. PMID: 33524049; PMCID: PMC7877763.
Muscle activity and scapular kinematics in individuals with multidirectional shoulder instability: A systematic review. Spanhove V, Van Daele M, Van den Abeele A, Rombaut L, Castelein B, Calders P, Malfait F, Cools A, De Wandele I. Ann Phys Rehabil Med. 2021 Jan;64(1):101457. doi: 10.1016/j.rehab.2020.10.008. Epub 2020 Nov 28. PMID: 33221471.
b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region. Delbaere S, De Clercq A, Mizumoto S, Noborn F, Bek JW, Alluyn L, Gistelinck C, Syx D, Salmon PL, Coucke PJ, Larson G, Yamada S, Willaert A, Malfait F. Front Cell Dev Biol. 2020 Dec 10;8:597857. doi: 10.3389/fcell.2020.597857. PMID: 33363150; PMCID: PMC7758351.
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome. Syx D, Miller RE, Obeidat AM, Tran PB, Vroman R, Malfait Z, Miller RJ, Malfait F, Malfait AM. Pain. 2020 Oct;161(10):2274-2283. doi: 10.1097/j.pain.0000000000001935. PMID: 32483055; PMCID: PMC7967806.
New insights on the clinical variability of FKBP10 mutations. Essawi OH, Tapaneeyaphan P, Symoens S, Gistelinck C C, Malfait F, Eyre DR, Essawi T, Callewaert B, Coucke PJ. Eur J Med Genet. 2020 Sep;63(9):103980. doi: 10.1016/j.ejmg.2020.103980. Epub 2020 Jun 9. PMID: 32531462.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Am J Hum Genet. 2020 Aug 6;107(2):374. doi: 10.1016/j.ajhg.2020.07.013. Erratum for: Am J Hum Genet. 2017 Feb 2;100(2):216-227. PMID: 32763190; PMCID: PMC7413885.
The Ehlers-Danlos syndromes. Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, Matsumoto N, Miyake N, Kosho T. Mol Genet Genomic Med. 2020 May;8(5):e1197. doi: 10.1002/mgg3.1197. Epub 2020 Mar 4. PMID: 32130795; PMCID: PMC7216804.
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F. Matrix Biol. 2020 Jul;89:59-75. doi: 10.1016/j.matbio.2019.12.002. Epub 2019 Dec 17. PMID: 31862401.
Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D. Disabil Rehabil. 2021 Mar;43(5):668-677. doi: 10.1080/09638288.2019.1636316. Epub 2019 Jul 9. PMID: 31287330.
The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study. Spanhove V, De Wandele I, Kjær BH, Malfait F, Vanderstukken F, Cools A. Physiotherapy. 2020 Jun;107:11-18. doi: 10.1016/j.physio.2019.06.010. Epub 2019 Jun 28. PMID: 32026810.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. 30: Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. PMID: 31794058.
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F. Genet Med. 2020 Jan;22(1):112-123. doi: 10.1038/s41436-019-0599-6. Epub 2019 Jul 5. PMID: 31273343.
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A. Sci Immunol. 2019 Nov 29;4(41):eaax7965. doi: 10.1126/sciimmunol.aax7965. Erratum in: Sci Immunol. 2020 Jan 3;5(43): PMID: 31784499; PMCID: PMC7014825.
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18. PMID: 30463024.
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review. Colman M, Van Damme T, Steichen-Gersdorf E, Laccone F, Nampoothiri S, Syx D, Guillemyn B, Symoens S, Malfait F. Orphanet J Rare Dis. 2019 Jun 13;14(1):138. doi: 10.1186/s13023-019-1110-9. PMID: 31196143; PMCID: PMC6567438.
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F. Am J Med Genet A. 2019 Jun;179(6):908-914. doi: 10.1002/ajmg.a.61119. Epub 2019 Mar 21. PMID: 30896082.
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F. Hum Mol Genet. 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. PMID: 30668708.
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S. Hum Mol Genet. 2019 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017. PMID: 30657919.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Naessens S, De Zaeytijd J, Syx D, Vandenbroucke RE, Smeets F, Van Cauwenbergh C, Leroy BP, Peelman F, Coppieters F. Hum Mutat. 2019 May;40(5):539-551. doi: 10.1002/humu.23713. Epub 2019 Feb 6. PMID: 30668888; PMCID: PMC6594137.
Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. Sulli A, Talarico R, Scirè CA, Avcin T, Castori M, Ferraris A, Frank C, Grunert J, Paolino S, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, Malfait F. RMD Open. 2018 Oct 18;4(Suppl 1):e000790. doi: 10.1136/rmdopen-2018-000790. PMID: 30402275; PMCID: PMC6203099.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel- Gigleux S, Malfait F. Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234. PMID: 29931299.
Vascular aspects of the Ehlers-Danlos Syndromes. Malfait F. Matrix Biol. 2018 Oct;71-72:380-395. doi: 10.1016/j.matbio.2018.04.013. Epub 2018 Apr 27. PMID: 29709596.
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F. Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15. PMID: 29551664.
Updating the Evidence on Functional Capacity Evaluation Methods: A Systematic Review. De Baets S, Calders P, Schalley N, Vermeulen K, Vertriest S, Van Peteghem L, Coussens M, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D. J Occup Rehabil. 2018 Sep;28(3):418-428. doi: 10.1007/s10926-017-9734-x. PMID: 28988355.
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6. PMID: 30082390; PMCID: PMC6112716.
Classic Ehlers-Danlos Syndrome. Malfait F, Wenstrup R, De Paepe A. 2007 May 29 [updated 2018 Jul 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301422.
Peripheral Mechanisms Contributing to Osteoarthritis Pain. Syx D, Tran PB, Miller RE, Malfait AM. Curr Rheumatol Rep. 2018 Feb 26;20(2):9. doi: 10.1007/s11926-018-0716-6. PMID: 29480410; PMCID: PMC6599517.
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review. D'hondt S, Van Damme T, Malfait F. Genet Med. 2018 Jun;20(6):562-573. doi: 10.1038/gim.2017.138. Epub 2017 Oct 5. PMID: 28981071; PMCID: PMC5993673.
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ. Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18. PMID: 29150909; PMCID: PMC5823677.
Hypermobility, the Ehlers-Danlos syndromes and chronic pain. Syx D, De Wandele I, Rombaut L, Malfait F. Clin Exp Rheumatol. 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28. PMID: 28967365.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG. Hum Mol Genet. 2017 Jun 15;26(12):2207-2217. doi: 10.1093/hmg/ddx110. PMID: 28419360; PMCID: PMC6075373.
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ. Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6. PMID: 28261977.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. PMID: 28294978; PMCID: PMC5372648.
The 2017 international classification of the Ehlers-Danlos syndromes. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229.
The international consortium on the Ehlers-Danlos syndromes. Bloom L, Byers P, Francomano C, Tinkle B, Malfait F; Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):5-7. doi: 10.1002/ajmg.c.31547. PMID: 28306227.
The Ehlers- Danlos syndromes, rare types. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer- Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. PMID: 28306225.
Ehlers-Danlos syndrome, classical type. Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. PMID: 28192633.
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay. Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A. Oncol Rep. 2017 Mar;37(3):1379-1386. doi: 10.3892/or.2017.5407. Epub 2017 Jan 25. PMID: 28184943; PMCID: PMC5364849.
A framework for the classification of joint hypermobility and related conditions. Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. doi: 10.1002/ajmg.c.31539. Epub 2017 Feb 1. PMID: 28145606.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Erratum in: Am J Hum Genet. 2020 Aug 6;107(2):374. PMID: 28065471; PMCID: PMC5294668.
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. De Baets S, Vanhalst M, Coussens M, Rombaut L, Malfait F, Van Hove G, Calders P, Vanderstraeten G, van de Velde D. Res Dev Disabil. 2017 Jan;60:135-144. doi: 10.1016/j.ridd.2016.11.017. Epub 2016 Dec 5. PMID: 27931013.
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ. J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24. PMID: 27541483; PMCID: PMC5364950.
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM. Eur Arch Otorhinolaryngol. 2016 Oct;273(10):3025-34. doi: 10.1007/s00405-016-3896-6. Epub 2016 Jan 19. PMID: 26786361.
RIN2 syndrome: Expanding the clinical phenotype. Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F. Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8. PMID: 27277385.
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F. Rheumatology (Oxford). 2016 Aug;55(8):1412-20. doi: 10.1093/rheumatology/kew032. Epub 2016 Apr 18. PMID: 27094596.
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM, De Pauw GA. J Craniomaxillofac Surg. 2016 Jul;44(7):848-53. doi: 10.1016/j.jcms.2016.04.010. Epub 2016 Apr 15. PMID: 27193475.
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation. Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Storm K, van den Ende J, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A. Breast Cancer Res. 2016 May 17;18(1):52. doi: 10.1186/s13058-016-0709-1. PMID: 27184744; PMCID: PMC4869288.
Expanding the clinical and mutational spectrum of the Ehlers- Danlos syndrome, dermatosparaxis type. Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F. Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14. PMID: 26765342.
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10. PMID: 26365339; PMCID: PMC4596895.
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-Lê T, Coucke PJ, De Paepe A, Malfait F. J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21. PMID: 25656619.
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F. Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. PMID: 25703627.
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists. Rombaut L, Deane J, Simmonds J, De Wandele I, De Paepe A, Malfait F, Calders P. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):76-83. doi: 10.1002/ajmg.c.31434. PMID: 25821093.
Ehlers- Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F. Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4. PMID: 26504261; PMCID: PMC4609397.
The Genetics of Soft Connective Tissue Disorders. Vanakker O, Callewaert B, Malfait F, Coucke P. Annu Rev Genomics Hum Genet. 2015;16:229-55. doi: 10.1146/annurev-genom-090314-050039. Epub 2015 May 18. PMID: 26002060.
Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia. Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F, Engelbert R, Calders P. Clin Rheumatol. 2015 Jun;34(6):1121-9. doi: 10.1007/s10067-014-2499-0. Epub 2014 Feb 4. PMID: 24487572.
Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls. De Wandele I, Calders P, Peersman W, Rimbaut S, De Backer T, Malfait F, De Paepe A, Rombaut L. Semin Arthritis Rheum. 2014 Dec;44(3):353-61. doi: 10.1016/j.semarthrit.2014.05.013. Epub 2014 May 14. PMID: 24968706.
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ. Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8. PMID: 25240749.
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure. Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F. Hum Mutat. 2014 Nov;35(11):1330-41. doi: 10.1002/humu.22677. Epub 2014 Oct 18. PMID: 25146735.
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. Nielsen RH, Couppé C, Jensen JK, Olsen MR, Heinemeier KM, Malfait F, Symoens S, De Paepe A, Schjerling P, Magnusson SP, Remvig L, Kjaer M. FASEB J. 2014 Nov;28(11):4668-76. doi: 10.1096/fj.14-249656. Epub 2014 Aug 13. PMID: 25122555.
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country. Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. PMID: 25044831.
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC. J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16. PMID: 24739904.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. PMID: 24625443.
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. Rajeshkannan R, kulkarni C, Kappanayil M, Nampoothiri S, Malfait F, De Paepe A, Moorthy S. Eur Radiol. 2014 Aug;24(8):1742-8. doi: 10.1007/s00330-014-3205-y. Epub 2014 May 17. PMID: 24838734.
Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome. De Wandele I, Rombaut L, Leybaert L, Van de Borne P, De Backer T, Malfait F, De Paepe A, Calders P. Semin Arthritis Rheum. 2014 Aug;44(1):93-100. doi: 10.1016/j.semarthrit.2013.12.006. Epub 2013 Dec 30. PMID: 24507822.
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Wiesmann T, Castori M, Malfait F, Wulf H. Orphanet J Rare Dis. 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. PMID: 25053156; PMCID: PMC4223622.
The Ehlers-Danlos syndrome. Malfait F, De Paepe A. Adv Exp Med Biol. 2014;802:129-43. doi: 10.1007/978-94-007-7893-1_9. PMID: 24443025.
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Allamand V, Beurrier P, Martin L, Malfait F, Syx D, DePaepe A. Response. Neuromuscul Disord. 2014 Jan;24(1):89. doi: 10.1016/j.nmd.2013.10.008. Epub 2013 Nov 6. PMID: 24295814.
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A, Kayserili H, Coucke PJ. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154. PMID: 24079343; PMCID: PMC3850743.
Copper deficiency in patients with cystinosis with cysteamine toxicity. Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN. J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4. PMID: 23651769.
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F. Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12. PMID: 23768946.
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. PMID: 23664118; PMCID: PMC3675258.
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. PMID: 23692737; PMCID: PMC3662563.
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C. Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36. PMID: 23442826; PMCID: PMC3599008.
Clinical utility gene card for: osteogenesis imperfecta. van Dijk FS, Dalgleish R, Malfait F, Maugeri A, Rusinska A, Semler O, Symoens S, Pals G. Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.210. Epub 2012 Sep 26. PMID: 23010751; PMCID: PMC3658202.
Thoracic aortic- aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. Renard M, Callewaert B, Malfait F, Campens L, Sharif S, del Campo M, Valenzuela I, Mcwilliam C, Coucke P, De Paepe A, De Backer J. Int J Cardiol. 2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25. PMID: 23102774.
Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome. De Wandele I, Rombaut L, Malfait F, De Backer T, De Paepe A, Calders P. Res Dev Disabil. 2013 Mar;34(3):873-81. doi: 10.1016/j.ridd.2012.11.018. Epub 2013 Jan 2. PMID: 23291504.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. PMID: 22829427; PMCID: PMC4105850.
Hearing impairment in Stickler syndrome: a systematic review. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709; PMCID: PMC3551705.
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. PMID: 22696272.
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Rombaut L, Malfait F, De Wandele I, Taes Y, Thijs Y, De Paepe A, Calders P. Arthritis Care Res (Hoboken). 2012 Oct;64(10):1584-92. doi: 10.1002/acr.21726. PMID: 22556148.
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. Kappanayil M, Nampoothiri S, Kannan R, Renard M, Coucke P, Malfait F, Menon S, Ravindran HK, Kurup R, Faiyaz-Ul-Haque M, Kumar K, De Paepe A. Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61. PMID: 22943132; PMCID: PMC3598868.
Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome. Rombaut L, Malfait F, De Wandele I, Mahieu N, Thijs Y, Segers P, De Paepe A, Calders P. Arthritis Care Res (Hoboken). 2012 May;64(5):766-72. doi: 10.1002/acr.21592. PMID: 22232076.
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10. PMID: 21829228; PMCID: PMC3234509.
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM. Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88. PMID: 22206639; PMCID: PMC3267664.
Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome. Rombaut L, Malfait F, De Wandele I, Thijs Y, Palmans T, De Paepe A, Calders P. Arthritis Care Res (Hoboken). 2011 Oct;63(10):1432-9. doi: 10.1002/acr.20557. PMID: 21793229.
Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A, Calders P. Arch Phys Med Rehabil. 2011 Jul;92(7):1106-12. doi: 10.1016/j.apmr.2011.01.016. Epub 2011 Jun 2. PMID: 21636074.
Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis. Rombaut L, Malfait F, De Paepe A, Rimbaut S, Verbruggen G, De Wandele I, Calders P. Arthritis Rheum. 2011 Jul;63(7):1979-87. doi: 10.1002/art.30337. PMID: 21391202.
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. PMID: 20839288; PMCID: PMC3179293.
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. Symoens S, Malfait F, Vlummens P, Hermanns-Lê T, Syx D, De Paepe A. PLoS One. 2011;6(5):e20121. doi: 10.1371/journal.pone.0020121. Epub 2011 May 17. PMID: 21611149; PMCID: PMC3096658.
Identification of binding partners interacting with the α1-N-propeptide of type V collagen. Symoens S, Renard M, Bonod-Bidaud C, Syx D, Vaganay E, Malfait F, Ricard- Blum S, Kessler E, Van Laer L, Coucke P, Ruggiero F, De Paepe A. Biochem J. 2011 Jan 15;433(2):371-81. doi: 10.1042/BJ20101061. PMID: 20979576.
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A. Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355. PMID: 20842734.
Clinical and genetic aspects of Ehlers- Danlos syndrome, classic type. Malfait F, Wenstrup RJ, De Paepe A. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697.
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Lê T, Willaert A, Benmansour A, De Paepe A, Verloes A. Hum Genet. 2010 Jul;128(1):79-88. doi: 10.1007/s00439-010-0829-0. Epub 2010 Apr 28. PMID: 20424861.
Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome. Verstraeten E, Symoens S, Renard M, Callewaert B, Vandekerckhove K, De Backer J, Malfait F, Marks L, Coucke P, De Paepe A, Loeys B. Clin Dysmorphol. 2010 Jul;19(3):119-122. doi: 10.1097/MCD.0b013e3283353105. PMID: 20308875.
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). Rombaut L, De Paepe A, Malfait F, Cools A, Calders P. Clin Rheumatol. 2010 Mar;29(3):289-95. doi: 10.1007/s10067-009-1320-y. Epub 2009 Nov 25. PMID: 19937459.
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Rombaut L, Malfait F, Cools A, De Paepe A, Calders P. Disabil Rehabil. 2010;32(16):1339-45. doi: 10.3109/09638280903514739. PMID: 20156051.
Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment. Malfait F, De Paepe A. Blood Rev. 2009 Sep;23(5):191-7. doi: 10.1016/j.blre.2009.06.001. Epub 2009 Jul 9. PMID: 19592142.
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. PMID: 18972565.
A review of the ADAMTS family, pharmaceutical targets of the future. Tortorella MD, Malfait F, Barve RA, Shieh HS, Malfait AM. Curr Pharm Des. 2009;15(20):2359-74. doi: 10.2174/138161209788682433. PMID: 19601837.
Ehlers-Danlos syndromes and Marfan syndrome. Callewaert B, Malfait F, Loeys B, De Paepe A. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. PMID: 18328988.
Three arginine to cysteine substitutions in the pro- alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A. Hum Mutat. 2007 Apr;28(4):387-95. doi: 10.1002/humu.20455. PMID: 17211858.
Molecular genetics in classic Ehlers-Danlos syndrome. Malfait F, De Paepe A. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. doi: 10.1002/ajmg.c.30070. PMID: 16278879.
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN. J Invest Dermatol. 2005 May;124(5):914-8. doi: 10.1111/j.0022-202X.2005.23727.x. PMID: 15854030.
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. PMID: 15580559.
DUP25 remains unconfirmed. Vermeulen SJ, Menten B, De Bie S, Coucke P, Malfait F, De Backer J, Speleman F, De Paepe A, Loeys B. Am J Med Genet A. 2004 Dec 15;131(3):320-1. doi: 10.1002/ajmg.a.30343. PMID: 15386472.
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. De Paepe A, Malfait F. Br J Haematol. 2004 Dec;127(5):491-500. doi: 10.1111/j.1365-2141.2004.05220.x. PMID: 15566352.
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. Am J Med Genet A. 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. PMID: 15389701.
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV. J Invest Dermatol. 2004 Oct;123(4):656-63. doi: 10.1111/j.0022-202X.2004.23406.x. PMID: 15373769.