MAGOTTEAUX, S., Farhat, N., Jacquinet, A., & Seghaye, M.-C. (March 2023). Cas clinique. Cardiopathie congénitale complexe : à propos d’un cas de syndrome de Noonan. Revue Médicale de Liège, 78 (3), 130-136. |
Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., Gonon Rodrigues Palmeira, L., CHARLOTEAUX, B., Brysse, A., BULK, S., Rigo, V., & Bours, V. (16 February 2023). Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours. International Journal of Molecular Sciences, 24 (4), 4003. doi:10.3390/ijms24044003 |
Jacquinet, A., Flasse, L., Dohet, M., Pendeville-Samain, H., Plougonven, E., Léonard, A., Guerrier, D., Peers, B., & Bours, V. (2023). Identification of NR6A1 as a new gene involved in congenital urogenital anomalies [Poster presentation]. 56th European Human Genetics Conference 2023. |
KEMPENEERS, C., Bricmont, N., Bonhiver, R., GUISSARD, F., HOUGRAND, O., DELVENNE, P., JACQUINET, A., HARVENGT, J., DOCAMPO MARTINEZ, E., BOURS, V., Benchimol, L., POIRRIER, A.-L., LEFEBVRE, P., CALMES, D., LOUIS, R., & SEGHAYE, M.-C. (17 March 2022). Ciliary videomicroscopy at room temperature lacks sensitivity for PCD diagnosis [Poster presentation]. Congress of the BVK-SBP, Brussels, Belgium. |
Jacquinet, A., Boujemla, B., FASQUELLE, C., Thiry, J., JOSSE, C., Lumaka, A., Brischoux-Boucher, E., Dubourg, C., David, V., Pasquier, L., Lehman, A., Morcel, K., Guerrier, D., & Bours, V. (2020). GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. Clinical Genetics, 98 (2), 126-137. doi:10.1111/cge.13769 |
JACQUINET, A., Bonnard, A., Capri, Y., Martin, D., Sadzot, B., Bianchi, E., Servais, L., SACRE, J.-P., Cave, H., & Verloes, A. (January 2019). Oligo-astrocytoma in LZTR1-related Noonan syndrome. European Journal of Medical Genetics, 63 (1), 103617. doi:10.1016/j.ejmg.2019.01.007 |
Alkan, S., Stouffs, K., Jansen, A., Misson, J.-P., Verloes, A., & JACQUINET, A. (16 February 2018). Circumferential skin creases and blepharophimosis are features associated with tubulinopathies : a case report and review of literature [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
JACQUINET, A., Brown, L., Sawkins, J., Liu, P., Pugash, D., Van Allen, M. I., & Patel, M. S. (2018). Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. European Journal of Medical Genetics. doi:10.1016/j.ejmg.2017.12.011 |
Alcantara, D., Timms, A. E., Gripp, K., Baker, L., Park, K., Collins, S., Cheng, C., Stewart, F., Mehta, S. G., Saggar, A., Sztriha, L., Zombor, M., Caluseriu, O., Mesterman, R., Van Allen, M. I., JACQUINET, A., Ygberg, S., Bernstein, J. A., Wenger, A. M., ... Mirzaa, G. M. (2017). Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain: a Journal of Neurology, 140 (10), 2610-2622. doi:10.1093/brain/awx203 |
JACQUINET, A., LEE, A. F., SWENERTON, A., LEHMAN, A., PATEL, M. S., & LANGLOIS, S. (October 2016). LRP4 mutations in bilateral renal agenesis with severe limb deficiencies [Poster presentation]. American Society of Human Genetics. |
Izumi, K., Brett, M., Nishi, E., Drunat, S., Tan, E.-S., Fujiki, K., Lebon, S., Cham, B., Masuda, K., Arakawa, M., JACQUINET, A., Yamazumi, Y., Chen, S.-T., Verloes, A., Okada, Y., Katou, Y., Nakamura, T., Akiyama, T., Gressens, P., ... Shirahige, K. (2016). ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. American Journal of Human Genetics, 99 (2), 451-9. doi:10.1016/j.ajhg.2016.06.011 |
JACQUINET, A., Millar, D., & Lehman, A. (2016). Etiologies of uterine malformations. American Journal of Medical Genetics. Part A, 170 (8), 2141-72. doi:10.1002/ajmg.a.37775 |
JACQUINET, A., & LEHMAN, A. (01 May 2015). Hereditary urogenital adysplasia: families with recurrence of uterine and renal malformations [Paper presentation]. Spring Pacific Northwest Genetics Exchange, Vancouver, Canada. |
JACQUINET, A., SIRRS, S., MATTMAN, A., & LEHMAN, A. (May 2015). Mania following acute decompensation in ornithine transcarbamylase deficiency [Poster presentation]. Garrod symposium, Vancouver, Canada. |
Simons, C., Rash, L. D., Crawford, J., Ma, L., Cristofori-Armstrong, B., Miller, D., Ru, K., Baillie, G. J., Alanay, Y., JACQUINET, A., Debray, F.-G., Verloes, A., Shen, J., Yesil, G., Guler, S., Yuksel, A., Cleary, J. G., Grimmond, S. M., McGaughran, J., ... Taft, R. J. (2015). Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 (1), 73-7. doi:10.1038/ng.3153 |
Simons, C., Rash, L. D., Crawford, J., Ma, L., Cristofori-Armstrong, B., Miller, D., Ru, K., Baillie, G. J., Alanay, Y., JACQUINET, A., DEBRAY, F.-G., Verloes, A., Shen, J., Yesil, G., Guler, S., Yuksel, A., Cleary, J. G., Grimmond, S. M., McGaughran, J., ... Taft, R. J. (2015). Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 (3), 304. |
JACQUINET, A. (2014). Caractéristiques Cliniques Et Impact Du Syndrome De Smith-Magenis : Étude d’une série de 47 patients [Master’s dissertation, ULiège - Université de Liège]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/193745 |
Jacquinet, A., Verloes, A., Callewaert, B., Coremans, C., Coucke, P., de Paepe, A., Kornak, U., Lebrun, F., Lombet, J., Pierard, G., Robinson, P. N., Symoens, S., Van Maldergem, L., & Debray, F.-G. (2014). Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. European Journal of Medical Genetics, 57 (5), 230-4. doi:10.1016/j.ejmg.2014.02.012 |
JACQUINET, A., VALDES SOCIN, H. G., LIBIOULLE, C., CABERG, J.-H., & VERLOES, A. (22 October 2013). Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities [Poster presentation]. American Society of Human Genetics 63rd Annual Meeting, Boston, United States. |
JACQUINET, A., VALDES SOCIN, H. G., LIBIOULLE, C., & VERLOES, A. (September 2013). Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia [Paper presentation]. 24th EUROPEAN MEETING ON DYSMORPHOLOGY, Strasbourg, France. |
JACQUINET, A., CABERG, J.-H., BOURS, V., & DEBRAY, F.-G. (June 2013). Intellectual disability and cancer susceptibility in a family with inherited 14q32.13q32.2 deletion [Poster presentation]. European Society of Human Genetics 2013, Paris, France. |
COTTEREAU,, E., MORTEMOUSQUE, I., MOIZARD, M.-P., BÜRGLEN, L., LACOMBE, D., GILBERT‐DUSSARDIER, B., SIGAUDY, S., BOUTE, O., DAVID, A., FAIVRE, L., AMIEL, J., ROBERTSON, R., VIANA RAMOS, F., BIETH, E., ODENT, S., DEMEER, B., MATHIEU, M., GAILLARD, D., VAN MALDERGEM, L., ... TOUTAIN, A. (May 2013). Phenotypic Spectrum of Simpson–Golabi– Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 163C (2), 92-105. doi:10.1002/ajmg.c.31360 |
SEGERS, K., CABERG, J.-H., JACQUINET, A., & DEBRAY, F.-G. (15 March 2013). Homozygosity mapping in clinical setting : a usefull method in workup of patients born to consanguineous parents presenting with an heterogeneous autosomal recessive disorder [Poster presentation]. 13° Belgian Society of Human Genetics Meeting, Bruxelles, Belgium. |
JACQUINET, A., STEVENS, R., DEMONCEAU, N., CABERG, J.-H., MENTEN, B., & DEBRAY, F.-G. (March 2011). MBD5 deletion: a new recurrent cause of mental retardation [Poster presentation]. 39th Annual Meeting of The Belgian Society of Pediatrics, Bruxelles, Belgium. |
JACQUINET, A., STEVENS, R., DEMONCEAU, N., LEROY, P., MISSON, J.-P., & DEBRAY, F.-G. (March 2011). Type II GM1 gangliosidosis presenting as isolated psychomotor regression [Poster presentation]. Annual Meeting of The Belgian Society of Pediatrics, Bruxelles, Belgium. |
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 |