Profil

Jacquinet Adeline

Département des sciences cliniques

GIGA

See author's contact details
Main Referenced Co-authors
Debray, François-Guillaume  (10)
Bours, Vincent  (6)
Verloes, Alain (5)
Caberg, Jean-Hubert  (4)
Alkan, Serpil  (3)
Main Referenced Keywords
Child (3); Female (3); Humans (3); genes (2); Infant (2);
Main Referenced Unit & Research Centers
CFRI (1)
Main Referenced Disciplines
Genetics & genetic processes (22)
Pediatrics (3)
Cardiovascular & respiratory systems (1)
General & internal medicine (1)
Human health sciences: Multidisciplinary, general & others (1)

Publications (total 27)

The most downloaded
183 downloads
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 https://hdl.handle.net/2268/235487

The most cited

114 citations (Scopus®)

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 https://hdl.handle.net/2268/178431

Harvengt, J., Docampo Martínez, E., Jacquinet, A., Alkan, S., Martin, M., Debray, F.-G., BULK, S., & Bours, V. (12 April 2024). New paradigms in clinical geneticist practice in the era of emerging therapies: examples of two pediatric syndromes [Poster presentation]. BESHG Annual Symposium 2024.
Peer reviewed

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.
Editorial Reviewed verified by ORBi

Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., 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
Peer Reviewed verified by ORBi

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.
Editorial reviewed

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.
Peer reviewed

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

JACQUINET, A., SIRRS, S., MATTMAN, A., & LEHMAN, A. (May 2015). Mania following acute decompensation in ornithine transcarbamylase deficiency [Poster presentation]. Garrod symposium, Vancouver, Canada.

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.

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.
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer Reviewed verified by ORBi

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
Peer reviewed

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
Peer Reviewed verified by ORBi

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