  | Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., Shboul, M., Tham, P.-Y., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O'Connor, B. D., Kegler, M. S.-V., Merriman, B., Nelson, S. F., Masri, A., Alkazaleh, F., ... Kornak, U. (February 2022). Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 54 (2), 213. doi:10.1038/s41588-022-01013-2  Peer Reviewed verified by ORBi |
 | Bodranghien, F., Oulad Ben Taib, N., VAN MALDERGEM, L., & Manto, M. (2017). A postural tremor highly responsive to transcranial cerebello-cerebral DCS in ARCA3. Frontiers in Neurology, 8 (MAR). doi:10.3389/fneur.2017.00071 Peer Reviewed verified by ORBi |
  | Kelley, B. P., 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. (2011). Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome. Journal of Bone and Mineral Research. doi:10.1002/jbmr.250 Peer Reviewed verified by ORBi |
 | Zhang, F., Seeman, P., Liu, P., Weterman, M. A. J., Gonzaga-Jauregui, C., Towne, C. F., Batish, S. D., De Vriendt, E., De Jonghe, P., Rautenstrauss, B., Krause, K.-H., Khajavi, M., Posadka, J., Vandenberghe, A., Palau, F., Van Maldergem, L., Baas, F., Timmerman, V., & Lupski, J. R. (2010). Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. American Journal of Human Genetics, 86 (6), 892-903. doi:10.1016/j.ajhg.2010.05.001 Peer Reviewed verified by ORBi |
 | Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., Francois, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addor, M. C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., ... Vikkula, M. (2010). IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Molecular Syndromology, 1 (2), 67-74. doi:10.1159/000313786 Peer Reviewed verified by ORBi |
 | Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortum, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H.-H., von Spiczak, S., Tonnies, H., ... Kutsche, K. (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42 (11), 1021-6. doi:10.1038/ng.677 Peer Reviewed verified by ORBi |
 | Jacquinet, A., Gerard, M., Gabbett, M. T., Rausin, L., Misson, J.-P., Menten, B., Mortier, G., Van Maldergem, L., Verloes, A., & Debray, F.-G. (2010). Temple-Baraitser syndrome: a rare and possibly unrecognized condition. American Journal of Medical Genetics. Part A, 152A (9), 2322-6. doi:10.1002/ajmg.a.33574 Peer Reviewed verified by ORBi |
 | Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., & Singleton, A. B. (2010). Exome sequencing in Brown-Vialetto-van Laere syndrome. American Journal of Human Genetics, 87 (4), 567-9; author reply 569-70. doi:10.1016/j.ajhg.2010.05.021 Peer Reviewed verified by ORBi |
 | Tischfield, M. A., Baris, H. N., Wu, C., Rudolph, G., VAN MALDERGEM, L., He, W., Chan, W.-M., Andrews, C., Demer, J. L., Robertson, R. L., Mackey, D. A., Ruddle, J. B., Bird, T. D., Gottlob, I., Pieh, C., Traboulsi, E. I., Pomeroy, S. L., Hunter, D. G., Soul, J. S., ... Engle, E. C. (2010). Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell, 140 (1), 74-87. doi:10.1016/j.cell.2009.12.011 Peer Reviewed verified by ORBi |
 | Guilmatre, A., Legallic, S., Steel, G., Willis, A., Di Rosa, G., Goldenberg, A., Drouin-Garraud, V., Guet, A., Mignot, C., Des Portes, V., Valayannopoulos, V., Van Maldergem, L., Hoffman, J. D., Izzi, C., Espil-Taris, C., Orcesi, S., Bonafe, L., Le Galloudec, E., Maurey, H., ... Campion, D. (2010). Type I hyperprolinemia: genotype/phenotype correlations. Human Mutation, 31 (8), 961-5. doi:10.1002/humu.21296 Peer Reviewed verified by ORBi |
 | Friguls, B., Coroleu, W., Del Alcazar, R., Hilbert, P., Van Maldergem, L., & Pintos-Morell, G. (2009). Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. European Journal of Medical Genetics, 52 (1), 14-16. doi:10.1016/j.ejmg.2008.10.006 Peer Reviewed verified by ORBi |
 | Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., Maystadt, I., Cosyns, J. P., Jouk, P. S., Loeys, B., Chauveau, D., Bieth, E., Layet, V., Mathieu, M., Lespinasse, J., Teebi, A., Franco, B., Gautier, E., ... Thauvin-Robinet, C. (2009). Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clinical Genetics. doi:10.1111/j.1399-0004.2009.01290.x Peer Reviewed verified by ORBi |
 | Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez, B., Greally, M. T., Gillessen-Kaesbach, G., Kayserili, H., Lemyre, E., Tekin, M., ... Urban, Z. (2009). Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics, 18 (12), 2149-65. doi:10.1093/hmg/ddp148 Peer Reviewed verified by ORBi |
 | Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., Shboul, M., Tham, P.-Y., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O'Connor, B. D., Schmidt-von Kegler, M., Merriman, B., Nelson, S. F., Masri, A., Alkazaleh, F., ... Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41 (9), 1016-21. doi:10.1038/ng.413 Peer Reviewed verified by ORBi |
 | Paznekas, W. A., Karczeski, B., Vermeer, S., Lowry, R. B., Delatycki, M., Laurence, F., Koivisto, P. A., Van Maldergem, L., Boyadjiev, S. A., Bodurtha, J. N., & Jabs, E. W. (2009). GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation, 30 (5), 724-33. doi:10.1002/humu.20958 Peer Reviewed verified by ORBi |
 | Shirwalkar, H. U., Patel, Z. M., Magre, J., Hilbert, P., Van Maldergem, L., Mukhopadhyay, R. R., & Maitra, A. (2008). Congenital genralized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. Journal of Inherited Metabolic Disease, 12. Peer Reviewed verified by ORBi |
 | Fantauzzo, K. A., Tadin-Strapps, M., You, Y., Mentzer, S. E., Baumeister, F. A., Cianfarani, S., Van Maldergem, L., Warburton, D., Sundberg, J. P., & Christiano, A. M. (2008). A position effect on TRPS1 us associated with Ambras syndrome in humans and the Koala phenotype in mice. Human Molecular Genetics. doi:10.1093/hmg/ddn247 Peer Reviewed verified by ORBi |
 | Thauvin-Robinet, C., Franco, B., Saugier-Veber, P., Aral, B., Gigot, N., Donzel, A., Van Maldergem, L., Bieth, E., Layet, V., Mathieu, M., Teebi, A., Lespinasse, J., Callier, P., Mugneret, F., Masurel-Paulet, A., Gautier, E., Huet, F., Teyssier, J.-R., Tosi, M., ... Faivre, L. (2008). Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Human Mutation, 30 (2), 320-9. doi:10.1002/humu.20888 Peer Reviewed verified by ORBi |
 | Shama, S., Burdon, K. P., Dave, A., Jamieson, R. V., Yaron, Y., Billson, F., Van Maldergem, L., Lorenz, B., Gécz, J., & Craig, J. E. (2008). Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Molecular Vision, 14, 1856-1864. Peer Reviewed verified by ORBi |
 | Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Bassel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., & Dobyns, W. B. (2008). Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa. Debre type. Neurology, 71 (20), 1602-1608. doi:10.1212/01.wnl.0000327822.52212.c7 Peer Reviewed verified by ORBi |
 | Menko, F. H., Kneepkens, C. M., de Leeuw, N., Peeters, E. A., Van Maldergem, L., Kamsteeg, E. J., Davidson, R., Rozendaal, L., Lasham, C. A., Peeters-Scholte, C. M., Jansweijer, M. C., Hilhorst-Hofstee, Y., Gille, J. J., Heins, Y. M., Nieuwint, A. W., & Sistermans, E. A. (2008). Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clinical Genetics, 74 (2), 145-154. doi:10.1111/j.1399-0004.2008.01026.x Peer Reviewed verified by ORBi |
 | Courtmans, I., Mancilla, V., Ligny, C., Hilbert, P., Mansbacht, A. L., & Van Maldergem, L. (April 2007). Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct. Journal of Laryngology and Otology, 121 (4), 312-317. doi:10.1017/S0022215106004245 Peer Reviewed verified by ORBi |
Verloes, A., Gillerot, Y., Van Maldergem, L., Schoos, R., Herens, C., Jamar, M., Dideberg, V., Lesenfants, S., & Koulischer, L. (January 2001). Major Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test? European Journal of Human Genetics, 9 (1), 1-4. doi:10.1038/sj.ejhg.5200575 Peer Reviewed verified by ORBi |
 | Verloes, A., Journel, H., Elmer, C., Misson, J.-P., Le Merrer, M., Kaplan, J., Van Maldergem, L., Deconinck, H., & Meire, F. (15 April 1993). Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types. American Journal of Medical Genetics, 46 (2), 132-137. doi:10.1002/ajmg.1320460206 Peer Reviewed verified by ORBi |
Verloes, A., Bonneau, D., Guidi, O., Berthier, M., Oriot, D., Van Maldergem, L., & Koulischer, L. (February 1993). Brachymorphism-Onychodysplasia-Dysphalangism Syndrome. Journal of Medical Genetics, 30 (2), 158-61. doi:10.1136/jmg.30.2.158 Peer Reviewed verified by ORBi |
Verloes, A., Gillerot, Y., Walczak, E., Van Maldergem, L., & Koulischer, L. (15 January 1992). Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome). American Journal of Medical Genetics, 42 (2), 180-3. doi:10.1002/ajmg.1320420209 Peer Reviewed verified by ORBi |
Van Maldergem, L., Wetzburger, C., Verloes, A., Fourneau, C., & Gillerot, Y. (January 1992). Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome? Clinical Genetics, 41 (1), 22-4. doi:10.1111/j.1399-0004.1992.tb03622.x Peer Reviewed verified by ORBi |
Lapiere, J. C., Verloes, A., Herens, C., Delfortrie, J., Van Maldergem, L., Gillerot, Y., & Koulischer, L. (1992). Combined 10pter-->P11 and 18pter-->Q11 Trisomy in a 7-Year-Old Child. Genetic Counseling, 3 (3), 155-9. Peer Reviewed verified by ORBi |
Verloes, A., Van Maldergem, L., de Marneffe, P., Dufier, J. L., & Maroteaux, P. (July 1990). Microspherophakia-Metaphyseal Dysplasia: A 'New' Dominantly Inherited Bone Dysplasia with Severe Eye Involvement. Journal of Medical Genetics, 27 (7), 467-71. doi:10.1136/jmg.27.7.467 Peer Reviewed verified by ORBi |
Herens, C., Verloes, A., Laloux, F., & Van Maldergem, L. (May 1990). Trisomy 20q. A New Case and Further Phenotypic Delineation. Clinical Genetics, 37 (5), 363-6. doi:10.1111/j.1399-0004.1990.tb03520.x Peer Reviewed verified by ORBi |
Verloes, A., Herens, C., Van Maldergem, L., Retz, M. C., & Dodinval, P. (1989). Roberts-Sc Phocomelia Syndrome with Exencephaly. Annales de Génétique, 32 (3), 169-70. Peer Reviewed verified by ORBi |