Thomy de Ravel

Ansari, M., Faour, K. N. W., Shimamura, A., Grimes, G., Kao, E. M., Denhoff, E. R., Blatnik, A., Ben-Isvy, D., Wang, L., Helm, B. M., Firth, H., Breman, A. M., Bijlsma, E. K., Iwata-Otsubo, A., de Ravel, T. J. L., Fusaro, V., Fryer, A., Nykamp, K., Stühn, L. G., Haack, T. B. & 35 anderen, Christoph Korenke, G., Constantinou, P., Bujakowska, K. M., Low, K. J., Place, E., Humberson, J., Napier, M. P., Hoffman, J., Juusola, J., Deardorff, M. A., Shao, W., Rockowitz, S., Krantz, I., Kaur, M., Raible, S., Kliesch, S., Singer-Berk, M., Groopman, E., DiTroia, S., Ballal, S., Srivastava, S., Rothfelder, K., Biskup, S., Rzasa, J., Kerkhof, J., McConkey, H., O'Donnell-Luria, A., Sadikovic, B., Hilton, S., Banka, S., Tüttelmann, F., Conrad, D., Talkowski, M. E., FitzPatrick, D. R. & Boone, P. M., 28 sep 2023, In: medRxiv : the preprint server for health sciences. 38 blz.

Onderzoeksoutput: Article

Prognostic value of left ventricular global constructive work in patients with cardiac amyloidosis

Geers, J., Luchian, M-L., Motoc, A., De Winter, J., Roosens, B., Bjerke, M., Van Eeckhaut, A., Wittens, M. M. J., Demeester, S., Forsyth, R., de Ravel, T., Bissay, V., Schots, R., Verbrugge, F. H., Weytjens, C., Weets, I., Cosyns, B. & Droogmans, S., mrt 2023, In: The International Journal of Cardiovascular Imaging. 39, 3, blz. 585-593 9 blz.

Onderzoeksoutput: Article › peer review

Open Access

Bestand

4 Citaten (Scopus)

23 Downloads (Pure)

Results From A Large Prospective Genetic Study In Children With Brugada Syndrome

Osei, R., Pannone, L., Bisignani, A., Gauthey, A., Sorgente, A., Vergara, P., Monaco, C., Rocca, D. G. D., Del Monte, A., Strazdas, A., Mojica, J., Al Housari, M., Miraglia, V., Mouram, S., Paparella, G., Ramak, R., Overeinder, I., Bala, G., Almorad, A., Ströker, E. & 8 anderen, Pappaert, G., Sieira Rodriguez-Moret, J. A., de Ravel, T., La Meir, M., Brugada, P., Van Dooren, S., De Asmundis, C. & Chierchia, G. B., 17 mrt 2023.

Onderzoeksoutput: Poster

Two unrelated patients with Nail-Patella syndrome and unusual additional features

Vanden Eynde, N. E. M., de Ravel, T., Poelsler, L., Gheldof, A., Seneca, S., Janssens, P., Bissay, V., Keymolen, K., Hes, F. J. & Dimitrov, B., sep 2023, Eurodysmorpho abstract book. blz. 22 1 blz.

Onderzoeksoutput: Meeting abstract (Book)

2022

Adult height and reproductive outcome of Klinefelter men with a 46,XX/47,XXY mosaicism

De Schepper, J. & de Ravel, T., 28 mrt 2022, (Accepted/In press) In: Journal of the Endocrine Society (JES).

Onderzoeksoutput: Meeting abstract (Journal)

A FAIR Brugada Syndrome data repository to facilitate cardiogenetic research

Ruiz, M. M. T., Daneels, D., Pappaert, G., Cannaerts, E., de Ravel, T., de Asmundis, C., Sieira, J., Nowe, A., Brugrada, P., Olsen, C., Lenaerts, T. & Van Dooren, S., apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 185-185

Onderzoeksoutput: Meeting abstract (Journal)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Cordenier, A., Flamez, A., de Ravel, T., Gheldof, A., Pannone, L., De Asmundis, C., Pappaert, G. & Bissay, V., 23 sep 2022, In: Frontiers in Neurology. 13, 7 blz., 1011956.

Onderzoeksoutput: Article › peer review

Open Access

Bestand

12 Downloads (Pure)

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Català-Mora, J., De Baere, E., Dollfus, H., Falana, M., Giorda, R., Golovleva, I., Gottlob, I. & 31 anderen, Heckenlively, J. R., Jacobson, S. G., Jones, K., Jägle, H., Janecke, A. R., Kellner, U., Liskova, P., Lorenz, B., Martorell-Sampol, L., Messias, A., Meunier, I., Belga Ottoni Porto, F., Papageorgiou, E., Plomp, A. S., de Ravel, T. J. L., Reiff, C. M., Renner, A. B., Rosenberg, T., Rudolph, G., Salati, R., Sener, E. C., Sieving, P. A., Stanzial, F., Traboulsi, E. I., Tsang, S. H., Varsanyi, B., Weleber, R. G., Zobor, D., Stingl, K., Wissinger, B. & Kohl, S., jul 2022, In: Human Mutation. 43, 7, blz. 832-858 27 blz.

Onderzoeksoutput: Article › peer review

Open Access

Bestand

13 Citaten (Scopus)

44 Downloads (Pure)

Extending the molecular and phenotypic spectrum of Bainbridge-Ropers syndrome

Van de Voorde, S. R., Vantroys, E., de Ravel, T., Keymolen, K., Hes, F. J. & Dimitrov, B., apr 2022.

Onderzoeksoutput: Poster

Extending the phenotypic spectrum of brainbridge-ropers syndrome

Van de Voorde, S. R., Vantroys, E., de Ravel, T., Keymolen, K., Hes, F. J. & Dimitrov, B., 2022, blz. 85-86. 1 blz.

Onderzoeksoutput: Unpublished abstract

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Marangoni, M., Smits, G., Ceysens, G., Costa, E., Coulon, R., Daelemans, C., De Coninck, C., Derisbourg, S., Gajewska, K., Garofalo, G., Gounongbe, C., Guizani, M., Holoye, A., Houba, C., Makhoul, J., Norgaard, C., Regnard, C., Romée, S., Soto, J., Stagel-Trabbia, A. & 33 anderen, Van Rysselberge, M., Vercoutere, A., Zaytouni, S., Bouri, S., D'Haene, N., D'Onle, D., Dugauquier, C., Racu, M-L., Rocq, L., Segers, V., Verocq, C., Avni, E. F., Cassart, M., Massez, A., Blaumeiser, B., Brischoux-Boucher, E., Bulk, S., De Ravel, T., Debray, G., Dimitrov, B., Janssens, S., Keymolen, K., Laterre, M., van Berkel, K., Van Maldergem, L., Vandernoot, I., Vilain, C., Donner, C., Tecco, L., Thomas, D., Désir, J., Abramowicz, M. & Migeotte, I., feb 2022, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24, 2, blz. 344-363 20 blz.

Onderzoeksoutput: Article › peer review

Open Access

16 Citaten (Scopus)

Prognostic Role of Pathogenic Mutations in Brugada Syndrome: Results From Wide Gene Testing

Pannone, L., Bisignani, A., Osei, R., Gauthey, A., Sorgente, A., Vergara, P., Monaco, C., Della Rocca, D., Overeinder, I., Bala, G., Almorad, A., Stroker, E., Sieira, J., de Ravel, T., Brugada, P., La Meir, M., Chierchia, G. B., Van Dooren, S. & de Asmundis, C., 8 nov 2022, In: Circulation. 146, 1, 1 blz., A14557.

Onderzoeksoutput: Meeting abstract (Journal)

Referral by the ophthalmologist leads to the diagnosis of a severe neurological disorder

Uyttebroeck, S., Kuijpers, R., Franckx, H. M. A., De Baere, E., Nekkebroeck, J., Keymolen, K., Hes, F. J. & de Ravel, T., 20 apr 2022, (Unpublished).

Onderzoeksoutput: Poster

SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping

Pannone, L., Monaco, C., Sorgente, A., Vergara, P., Gauthey, A., Calburean, P-A., Bisignani, A., Paparella, G., Ramak, R., Overeinder, I., Bala, G., Almorad, A., Ströker, E., Pappaert, G., Sieira, J., Brugada, P., Van Dooren, S., de Ravel, T., La Meir, M., Chierchia, G. B. & 1 anderen, de Asmundis, C., jun 2022, In: Heart Rhythm. 19, 6, blz. 945-951 7 blz.

Onderzoeksoutput: Article › peer review

14 Citaten (Scopus)

2020

BCAP31-related syndrome: The first de novo report

Rinaldi, B., Hoof, E. V., Corveleyn, A., Cauter, A. V. & Ravel, T. D., feb 2020, In: European Journal of Medical Genetics. 63, 2, 103732.

Onderzoeksoutput: Article › peer review

8 Citaten (Scopus)

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

Rinaldi, B., Race, V., Corveleyn, A., Van Hoof, E., Bauters, M., Van Den Bogaert, K., Denayer, E., de Ravel, T., Legius, E., Baldewijns, M., Aertsen, M., Lewi, L., De Catte, L., Breckpot, J. & Devriendt, K., 10 feb 2020, In: European Journal of Medical Genetics. 63, 5, 9 blz., 103875.

Onderzoeksoutput: Article › peer review

14 Citaten (Scopus)

The clinical relevance of intragenic NRXN1 deletions

Cosemans, N., Vandenhove, L., Vogels, A., Devriendt, K., Van Esch, H., Van Buggenhout, G., Olivié, H., de Ravel, T., Ortibus, E., Legius, E., Aerssens, P., Breckpot, J., R Vermeesch, J., Shen, S., Fitzgerald, J., Gallagher, L. & Peeters, H., mei 2020, In: Journal of Medical Genetics. 57, 5, blz. 347-355 9 blz.

Onderzoeksoutput: Article › peer review

14 Citaten (Scopus)

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Almoallem, B., Arno, G., De Zaeytijd, J., Verdin, H., Balikova, I., Casteels, I., de Ravel, T., Hull, S., Suzani, M., Destrée, A., Peng, M., Williams, D., Ainsworth, J. R., Webster, A. R., Leroy, B. P., Moore, A. T. & De Baere, E., 28 jan 2020, In: Scientific Reports. 10, 1, 10 blz., 1289.

Onderzoeksoutput: Article › peer review

Open Access

28 Citaten (Scopus)

2019

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Brison, N., Storms, J., Villela, D., Claeys, K. G., Dehaspe, L., de Ravel, T., De Waele, L., Goemans, N., Legius, E., Peeters, H., Van Esch, H., Race, V., Robert Vermeesch, J., Devriendt, K. & Van Den Bogaert, K., dec 2019, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 21, 12, blz. 2774-2780 7 blz.

Onderzoeksoutput: Article › peer review

Open Access

16 Citaten (Scopus)

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Felden, J., Baumann, B., Ali, M., Audo, I., Ayuso, C., Bocquet, B., Casteels, I., Garcia-Sandoval, B., Jacobson, S. G., Jurklies, B., Kellner, U., Kessel, L., Lorenz, B., McKibbin, M., Meunier, I., de Ravel, T., Rosenberg, T., Rüther, K., Vadala, M., Wissinger, B. & 2 anderen, Stingl, K. & Kohl, S., aug 2019, In: Human Mutation. 40, 8, blz. 1145-1155 11 blz.

Onderzoeksoutput: Article › peer review

17 Citaten (Scopus)

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

Brekelmans, C., Hollants, S., De Groote, C., Sohier, N., Maréchal, M., Geris, L., Luyten, F. P., Ginckels, L., Sciot, R., de Ravel, T., De Smet, L., Lammens, J., Legius, E. & Brems, H., okt 2019, In: Human Mutation. 40, 10, blz. 1760-1767 8 blz.

Onderzoeksoutput: Article › peer review

12 Citaten (Scopus)

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Zeitz, C., Michiels, C., Neuillé, M., Friedburg, C., Condroyer, C., Boyard, F., Antonio, A., Bouzidi, N., Milicevic, D., Veaux, R., Tourville, A., Zoumba, A., Seneina, I., Foussard, M., Andrieu, C., N Preising, M., Blanchard, S., Saraiva, J-P., Mesrob, L., Le Floch, E. & 37 anderen, Jubin, C., Meyer, V., Blanché, H., Boland, A., Deleuze, J-F., Sharon, D., Drumare, I., Defoort-Dhellemmes, S., De Baere, E., Leroy, B. P., Zanlonghi, X., Casteels, I., de Ravel, T. J., Balikova, I., Koenekoop, R. K., Laffargue, F., McLean, R., Gottlob, I., Bonneau, D., Schorderet, D. F., L Munier, F., McKibbin, M., Prescott, K., Pelletier, V., Dollfus, H., Perdomo-Trujillo, Y., Faure, C., Reiff, C., Wissinger, B., Meunier, I., Kohl, S., Banin, E., Zrenner, E., Jurklies, B., Lorenz, B., Sahel, J-A. & Audo, I., jun 2019, In: Human Mutation. 40, 6, blz. 765-787 23 blz.

Onderzoeksoutput: Article › peer review

25 Citaten (Scopus)

2018

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Ardui, S., Race, V., de Ravel, T., Van Esch, H., Devriendt, K., Matthijs, G. & Vermeesch, J. R., 2018, In: Frontiers in Genetics. 9, 6 blz., 150.

Onderzoeksoutput: Article › peer review

Open Access

24 Citaten (Scopus)

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

Destouni, A., Dimitriadou, E., Masset, H., Debrock, S., Melotte, C., Van Den Bogaert, K., Zamani Esteki, M., Ding, J., Voet, T., Denayer, E., de Ravel, T., Legius, E., Meuleman, C., Peeraer, K. & Vermeesch, J. R., 1 dec 2018, In: Human Reproduction. 33, 12, blz. 2302-2311 10 blz.

Onderzoeksoutput: Article › peer review

Open Access

47 Citaten (Scopus)

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

Brison, N., Neofytou, M., Dehaspe, L., Bayindir, B., Van Den Bogaert, K., Dardour, L., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel, T., Legius, E., Devriendt, K. & Vermeesch, J. R., mrt 2018, In: Prenatal Diagnosis. 38, 4, blz. 258-266 9 blz.

Onderzoeksoutput: Article › peer review

66 Citaten (Scopus)

2017

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Brison, N., Van Den Bogaert, K., Dehaspe, L., van den Oever, J. M. E., Janssens, K., Blaumeiser, B., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel, T., Legius, E., Devriendt, K. & Vermeesch, J. R., mrt 2017, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 19, 3, blz. 306-313 8 blz.

Onderzoeksoutput: Article › peer review

Open Access

52 Citaten (Scopus)

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Lumaka, A., Cosemans, N., Lulebo Mampasi, A., Mubungu, G., Mvuama, N., Lubala, T., Mbuyi-Musanzayi, S., Breckpot, J., Holvoet, M., de Ravel, T., Van Buggenhout, G., Peeters, H., Donnai, D., Mutesa, L., Verloes, A., Lukusa Tshilobo, P. & Devriendt, K., aug 2017, In: Clinical Genetics. 92, 2, blz. 166-171 6 blz.

Onderzoeksoutput: Article › peer review

55 Citaten (Scopus)

FOXP1-related intellectual disability syndrome: a recognisable entity

Meerschaut, I., Rochefort, D., Revençu, N., Pètre, J., Corsello, C., Rouleau, G. A., Hamdan, F. F., Michaud, J. L., Morton, J., Radley, J., Ragge, N., García-Miñaúr, S., Lapunzina, P., Bralo, M. P., Mori, M. Á., Moortgat, S., Benoit, V., Mary, S., Bockaert, N., Oostra, A. & 26 anderen, Vanakker, O., Velinov, M., de Ravel, T. J., Mekahli, D., Sebat, J., Vaux, K. K., DiDonato, N., Hanson-Kahn, A. K., Hudgins, L., Dallapiccola, B., Novelli, A., Tarani, L., Andrieux, J., Parker, M. J., Neas, K., Ceulemans, B., Schoonjans, A-S., Prchalova, D., Havlovicova, M., Hancarova, M., Budisteanu, M., Dheedene, A., Menten, B., Dion, P. A., Lederer, D. & Callewaert, B., sep 2017, In: Journal of Medical Genetics. 54, 9, blz. 613-623 11 blz.

Onderzoeksoutput: Article › peer review

Open Access

46 Citaten (Scopus)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Van Cauwenbergh, C., Coppieters, F., Roels, D., De Jaegere, S., Flipts, H., De Zaeytijd, J., Walraedt, S., Claes, C., Fransen, E., Van Camp, G., Depasse, F., Casteels, I., de Ravel, T., Leroy, B. P. & De Baere, E., 11 jan 2017, In: PLOS ONE. 12, 1, 18 blz., 0170038.

Onderzoeksoutput: Article › peer review

Open Access

47 Citaten (Scopus)

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

Dimitriadou, E., Melotte, C., Debrock, S., Esteki, M. Z., Dierickx, K., Voet, T., Devriendt, K., de Ravel, T., Legius, E., Peeraer, K., Meuleman, C. & Vermeesch, J. R., 1 mrt 2017, In: Human Reproduction. 32, 3, blz. 687-697 11 blz.

Onderzoeksoutput: Article › peer review

Open Access

35 Citaten (Scopus)

2016

Clinical implementation of NIPT - technical and biological challenges

Brady, P., Brison, N., Van Den Bogaert, K., de Ravel, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E. & Vermeesch, J. R., mei 2016, In: Clinical Genetics. 89, 5, blz. 523-30 8 blz.

Onderzoeksoutput: Scientific review › peer review

76 Citaten (Scopus)

2015

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

Bauwens, M., De Zaeytijd, J., Weisschuh, N., Kohl, S., Meire, F., Dahan, K., Depasse, F., De Jaegere, S., De Ravel, T., De Rademaeker, M., Loeys, B., Coppieters, F., Leroy, B. P. & De Baere, E., jan 2015, In: Human Mutation. 36, 1, blz. 39-42 4 blz.

Onderzoeksoutput: Article › peer review

58 Citaten (Scopus)

Long-term effect of gene therapy on Leber's congenital amaurosis

Bainbridge, J. W. B., Mehat, M. S., Sundaram, V., Robbie, S. J., Barker, S. E., Ripamonti, C., Georgiadis, A., Mowat, F. M., Beattie, S. G., Gardner, P. J., Feathers, K. L., Luong, V. A., Yzer, S., Balaggan, K., Viswanathan, A., de Ravel, T. J. L., Casteels, I., Holder, G. E., Tyler, N., Fitzke, F. W. & 11 anderen, Weleber, R. G., Nardini, M., Moore, A. T., Thompson, D. A., Petersen-Jones, S. M., Michaelides, M., van den Born, L. I., Stockman, A., Smith, A. J., Rubin, G. & Ali, R. R., 2015, In: The New England journal of medicine. 372, 20, blz. 1887-97 11 blz.

Onderzoeksoutput: Article › peer review

617 Citaten (Scopus)

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Fieremans, N., Van Esch, H., de Ravel, T., Van Driessche, J., Belet, S., Bauters, M. & Froyen, G., 2015, In: European Journal of Medical Genetics. 58, 5, blz. 324-7 4 blz.

Onderzoeksoutput: Article › peer review

26 Citaten (Scopus)

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel, M. J., Mendola, A., Fastré, E., Vasudevan, P., Devriendt, K., de Ravel, T. J. L., Van Esch, H., Casteels, I., Arroyo Carrera, I., Cristofoli, F., Fieggen, K., Jones, K., Lipson, M., Balikova, I., Singer, A., Soller, M., Mercedes Villanueva, M., Revencu, N., Boon, L. M., Brouillard, P. & 1 anderen, Vikkula, M., 2015, In: Orphanet Journal of Rare Diseases. 10, 11 blz., 52.

Onderzoeksoutput: Article › peer review

20 Citaten (Scopus)

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Bayindir, B., Dehaspe, L., Brison, N., Brady, P., Ardui, S., Kammoun, M., Van der Veken, L., Lichtenbelt, K., Van den Bogaert, K., Van Houdt, J., Peeters, H., Van Esch, H., de Ravel, T., Legius, E., Devriendt, K. & Vermeesch, J. R., 2015, In: European Journal of Human Genetics. 23, 10, blz. 1286-93 8 blz.

Onderzoeksoutput: Article › peer review

103 Citaten (Scopus)

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

De Rocker, N., Vergult, S., Koolen, D., Jacobs, E., Hoischen, A., Zeesman, S., Bang, B., Béna, F., Bockaert, N., Bongers, E. M., de Ravel, T., Devriendt, K., Giglio, S., Faivre, L., Joss, S., Maas, S., Marle, N., Novara, F., Nowaczyk, M. J. M., Peeters, H. & 16 anderen, Polstra, A., Roelens, F., Rosenberg, C., Thevenon, J., Tümer, Z., Vanhauwaert, S., Varvagiannis, K., Willaert, A., Willemsen, M., Willems, M., Zuffardi, O., Coucke, P., Speleman, F., Eichler, E. E., Kleefstra, T. & Menten, B., jun 2015, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17, 6, blz. 460-6 7 blz.

Onderzoeksoutput: Article › peer review

44 Citaten (Scopus)

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Ripamonti, C., Henning, G. B., Robbie, S. J., Sundaram, V., van den Born, L. I., Casteels, I., de Ravel, T. J. L., Moore, A. T., Smith, A. J., Bainbridge, J. W., Ali, R. R. & Stockman, A., 2015, In: Vision research. 15, 15, blz. 1-16 16 blz., 20.

Onderzoeksoutput: Article › peer review

12 Citaten (Scopus)

2014

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, N. B., Depasse, F., Casteels, I., de Ravel, T., Meire, F., Leroy, B. P. & De Baere, E., sep 2014, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16, 9, blz. 671-80 10 blz.

Onderzoeksoutput: Article › peer review

51 Citaten (Scopus)

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Ripamonti, C., Henning, G. B., Ali, R. R., Bainbridge, J. W., Robbie, S. J., Sundaram, V., Luong, V. A., van den Born, L. I., Casteels, I., de Ravel, T. J. L., Moore, A. T. & Stockman, A., 25 sep 2014, In: Investigative Ophthalmology & Visual Science. 55, 10, blz. 6817-28 12 blz.

Onderzoeksoutput: Article › peer review

14 Citaten (Scopus)

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Verdin, H., Sorokina, E. A., Meire, F., Casteels, I., de Ravel, T., Semina, E. V. & De Baere, E., 20 feb 2014, In: Orphanet Journal of Rare Diseases. 9, 1, 11 blz., 26.

Onderzoeksoutput: Article › peer review

29 Citaten (Scopus)

Thomy de Ravel

Onderzoeksoutput

Zoekresultaten