Publications and communications of Saskia BULK

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

Levaux, J., Farhat, N., VAN CASTEREN, L., BULK, S., & Seghaye, M.-C. (26 August 2022). Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy. Clinics and Practice, 12 (5), 677-685. doi:10.3390/clinpract12050070

Kukor, L., BERTOLI, S., CREVECOEUR, J., Bours, V., & BULK, S. (21 April 2022). What does a Genetic Counsellor do in the University Hospital of Liège ? [Poster presentation]. BeSHG/NVHG Annual Genetics Symposium 2022.

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., ... Migeotte, I. (February 2022). Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts. Genetics in Medicine, 24 (2), 344 - 363. doi:10.1016/j.gim.2021.09.016

GALOPIN, C., Denoo, X., JAMBLIN, P., Delbecque, K., BULK, S., Chantraine, F., & Nisolle, M. (February 2021). Lethal metatropic dwarfism: a case report. European Gynecology and Obstetrics, 3 (1), 37-39.

Faundes, V., Goh, S., Akilapa, R., Bezuidenhout, H., Bjornsson, H. T., Bradley, L., Brady, A. F., Brischoux-Boucher, E., Brunner, H., BULK, S., Canham, N., Cody, D., Dentici, M. L., Digilio, M. C., Elmslie, F., Fry, A. E., Gill, H., Hurst, J., Johnson, D., ... Banka, S. (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine : official journal of the American College of Medical Genetics. doi:10.1038/s41436-021-01119-8

van Riel, M., Brison, N., Baetens, M., Blaumeiser, B., BOEMER, F., Bourlard, L., BULK, S., De Leener, A., Désir, J., Devriendt, K., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., GATOT, J.-S., GRISART, B., Janssens, S., Khudashvili, N., Lannoo, L., ... Janssens, K. (2021). Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. Obstetrics and Gynecology, 137 (6), 1102-1108. doi:10.1097/AOG.0000000000004385

HARVENGT, J., ALKAN, S., Florkin, B., BULK, S., & Bours, V. (June 2020). POP1-Skeletal dysplasias : description of two new families [Poster presentation]. European Human Genetics Virtual Conference 2020.

HARVENGT, J., Boros, E., BULK, S., & Bours, V. (15 March 2019). COL1A2 mutation in a case of isolated short stature [Poster presentation]. 19th Annual Meeting of the Belgian Society of Human Genetics, Liège, Belgium.

Ebetiuc, I., BULK, S., & LEROY, P. (2019). L'heterotopie nodulaire periventriculaire. Un cas pediatrique. Revue Médicale de Liège, 74 (7-8), 388-390.

BARREA, C., VAESSEN, S., BULK, S., HARVENGT, J., & Misson, J.-P. (2018). Phenotype-genotype correlation in children with neurofibromatosis type 1. Neuropediatrics. doi:10.1055/s-0037-1620239

ALKAN, S., LEROY, P., & BULK, S. (16 February 2018). Confirmation of an association between CTNNB1 mutations and hyperekplexia [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

BERTOLI, S., VAN CASTEREN, L., Bours, V., & BULK, S. (16 February 2018). The cardiogenetics consultation : an inventorisation of the Liege population [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

D'OTREPPE DE BOUVETTE, S., Lombet, J., Tebache, M., CABERG, J.-H., & BULK, S. (16 February 2018). Another case of Galloway-Mowat syndrome associated with a biallelic mutation of the OSGEP gene [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

HARVENGT, J., Schierloh, U., BULK, S., & PIERQUIN, G. (16 February 2018). Post axial polydactyly : isolated symptom or part of a syndrome. A case of BBS8 with two novel molecular anomalies [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

KUKOR, L., BERTOLI, S., Bours, V., BULK, S., & DOCAMPO MARTINEZ, E. (16 February 2018). Ehlers-Danlos syndrome in the University Hospital of Liege [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

PIERQUIN, G., & BULK, S. (January 2018). Pseudarthose de l'avant-bras chez une patiente atteinte de neurofibromatose [Poster presentation]. 9ème Assises de Génétique Humaine et Médicale, Nantes, France.