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Items: 1 to 50 of 85

1.

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2018 Oct 29;8(1):15845. doi: 10.1038/s41598-018-33869-y.

2.

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

Boel A, De Saffel H, Steyaert W, Callewaert B, De Paepe A, Coucke PJ, Willaert A.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035352. doi: 10.1242/dmm.035352.

3.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2018 Oct 8. doi: 10.1038/s41436-018-0323-y. [Epub ahead of print]

PMID:
30293988
4.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

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, Baena N, 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 Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
5.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

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 ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J.

J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.

PMID:
30071989
6.

P 003 - Gait deviations in children with Charcot-Marie Tooth's disease and their association with muscle weakness.

Callewaert B, Goudriaan M, den Hauwe MV, Goemans N, Molenaers G, Desloovere K.

Gait Posture. 2018 Sep;65 Suppl 1:239-240. doi: 10.1016/j.gaitpost.2018.06.149. Epub 2018 Jun 26. No abstract available.

PMID:
30042089
7.

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Beyens A, Moreno-Artero E, Bodemer C, Cox H, Gezdirici A, Yilmaz Gulec E, Kahloul N, Khau Van Kien P, Ogur G, Harroche A, Vasse M, Salhi A, Symoens S, Hadj-Rabia S, Callewaert B.

Exp Dermatol. 2018 Jun 28. doi: 10.1111/exd.13723. [Epub ahead of print]

PMID:
29952037
8.

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J.

Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039.

PMID:
29875124
9.

Arterial tortuosity syndrome: 40 new families and literature review.

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.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
10.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
11.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

12.

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.

Kreps EO, Van Herzeele I, Callewaert BL.

Ophthalmic Genet. 2018 Apr;39(2):268-270. doi: 10.1080/13816810.2017.1408849. Epub 2017 Nov 28.

PMID:
29182461
13.

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.

14.

Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S.

Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103. No abstract available.

PMID:
29120062
15.

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Van Paemel R, De Bruyne P, van der Straaten S, D'hondt M, Fränkel U, Dheedene A, Menten B, Callewaert B.

Am J Med Genet A. 2017 Nov;173(11):3104-3108. doi: 10.1002/ajmg.a.38407. Epub 2017 Sep 8.

PMID:
28884947
16.

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M.

Int J Mol Sci. 2017 Aug 22;18(8). pii: E1820. doi: 10.3390/ijms18081820.

17.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

18.

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

Sinnige PF, van Ravenswaaij-Arts CMA, Caruso P, Lin AE, Boon M, Rahikkala E, Callewaert B, Meiners LC.

Eur J Paediatr Neurol. 2017 Nov;21(6):912-920. doi: 10.1016/j.ejpn.2017.07.003. Epub 2017 Jul 18.

PMID:
28757335
19.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
20.

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB.

Ophthalmic Genet. 2018 Jan-Feb;39(1):29-34. doi: 10.1080/13816810.2017.1335332. Epub 2017 Jul 20.

PMID:
28726533
21.

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Duz MB, Kirat E, Coucke PJ, Koparir E, Gezdirici A, Paepe A, Callewaert B, Seven M.

Clin Dysmorphol. 2017 Jul;26(3):142-147. doi: 10.1097/MCD.0000000000000179. Review.

PMID:
28383366
22.

Fibromuscular dysplasia - results of a multicentre study in Flanders.

De Groote M, Van der Niepen P, Hemelsoet D, Callewaert B, Vermassen F, Billiouw JM, De Vriese A, Donck J, De Backer T.

Vasa. 2017 May;46(3):211-218. doi: 10.1024/0301-1526/a000613. Epub 2017 Feb 3.

PMID:
28157058
23.

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.

24.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

25.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

26.

High-demand motor tasks are more sensitive to detect persisting alterations in muscle activation following total knee replacement.

Severijns P, Vanslembrouck M, Vermulst J, Callewaert B, Innocenti B, Desloovere K, Vandenneucker H, Scheys L.

Gait Posture. 2016 Oct;50:151-158. doi: 10.1016/j.gaitpost.2016.09.003. Epub 2016 Sep 6.

PMID:
27621084
27.

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2016 Jul 27;6:30330. doi: 10.1038/srep30330. Erratum in: Sci Rep. 2018 Oct 29;8(1):15845.

28.

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. Review.

PMID:
27277385
29.

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É.

FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27.

30.

LTBP4-Related Cutis Laxa.

Callewaert BL, Urban Z.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Feb 11.

31.

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

Van Hulle S, Craen M, Callewaert B, Joustra S, Oostdijk W, Losekoot M, Wit JM, Turgeon MO, Bernard DJ, De Schepper J.

J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):86-91. doi: 10.4274/jcrpe.2512. Epub 2015 Dec 18.

32.

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.

Verdin H, Fernández-Miñán A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, De Schepper J, François I, Menten B, Heath KE, Gómez-Skarmeta JL, De Baere E.

Sci Rep. 2015 Dec 3;5:17667. doi: 10.1038/srep17667.

33.

Recurrent duplications of 17q12 associated with variable phenotypes.

Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC.

Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30.

PMID:
26420380
34.

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

Meerschaut I, Bordon V, Dhooge C, Delbeke P, Vanlander AV, Simon A, Klein C, Kooy RF, Somech R, Callewaert B.

Am J Med Genet A. 2015 Dec;167A(12):3214-8. doi: 10.1002/ajmg.a.37367. Epub 2015 Sep 11.

PMID:
26358756
35.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

36.

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

De Backer J, Renard M, Campens L, Mosquera LM, De Paepe A, Coucke P, Callewaert B, Kodolitsch Yv.

Curr Pharm Des. 2015;21(28):4061-75. Review.

PMID:
26306841
37.

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. Review.

PMID:
26002060
38.

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y, Louw JJ, Breckpot J, Callewaert B, Barrea C, Sznajer Y, Gewillig M, Souche E, Dehaspe L, Vermeesch JR, Lambrechts D, Devriendt K, Corveleyn A.

Am J Med Genet A. 2015 Aug;167A(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30.

PMID:
25931334
39.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

40.

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, De Paepe A, Coucke P, De Backer J.

Orphanet J Rare Dis. 2015 Feb 3;10:9. doi: 10.1186/s13023-014-0221-6.

41.

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M.

Orphanet J Rare Dis. 2014 Dec 14;9:209. doi: 10.1186/s13023-014-0209-2.

42.

Arterial Tortuosity Syndrome.

Callewaert B, De Paepe A, Coucke P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Nov 13.

43.

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

Mehar V, Yadav D, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ.

J Pediatr Genet. 2014 Sep;3(3):163-6. doi: 10.3233/PGE-14093.

44.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.

Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.

PMID:
24913064
45.

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

Brady PD, Van Houdt J, Callewaert B, Deprest J, Devriendt K, Vermeesch JR.

Eur J Med Genet. 2014 May-Jun;57(6):247-52. doi: 10.1016/j.ejmg.2014.04.006. Epub 2014 Apr 24.

PMID:
24769157
46.

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG.

Eur J Med Genet. 2014 Apr;57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.

PMID:
24613577
47.

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.

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.

PLoS One. 2014 Feb 24;9(2):e89749. doi: 10.1371/journal.pone.0089749. eCollection 2014.

48.

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

Campens L, Renard M, Callewaert B, Coucke P, De Backer J, De Paepe A.

Pol Arch Med Wewn. 2013;123(12):693-700. Epub 2013 Dec 16. Review.

49.

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.

50.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.

Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

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