Publications and communications of BULK, Saskia

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.

DOCAMPO MARTINEZ, E., MARTIN, M., GANGOLF, M., HARVENGT, J., BULK, S., SEGERS, K., LEROI, N., LETE, C., PALMARICCIOTTI, V., Freire Chadrina, M., LAMBERT, F., & Bours, V. (2021). Hérédité et cancer. Revue Médicale de Liège, 76 (5-6), 327-336.

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 session presented at European Human Genetics Virtual Conference 2020.

Ebrahimi-Fakhari, D., Teinert, J., Behne, R., Wimmer, M., D'Amore, A., Eberhardt, K., Brechmann, B., Ziegler, M., Jensen, D. M., Nagabhyrava, P., Geisel, G., Carmody, E., Shamshad, U., Dies, K. A., Yuskaitis, C. J., Salussolia, C. L., Ebrahimi-Fakhari, D., Pearson, T. S., Saffari, A., & Sahin, M. (2020). Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain: a Journal of Neurology, 143 (10), 2929-2944. doi:10.1093/brain/awz307

Muys, J., Jacquemyn, Y., Blaumeiser, B., Bourlard, L., Brison, N., BULK, S., Chiarappa, P., De Leener, A., De Rademaeker, M., Désir, J., Destrée, A., Devriendt, K., Dheedene, A., Duquenne, A., Fieuw, A., Fransen, E., GATOT, J.-S., JAMAR, M., Janssens, S., & Janssens, K. (2020). Prenatally detected copy number variants in a national cohort: A postnatal follow-up study. Prenatal Diagnosis. doi:10.1002/pd.5751

BULK, S., & Lumaka Zola, A. (22 November 2019). Preconceptional carrier screening in Belgium. Paper presented at 42nd Scientific Meeting Begian Society for Reproductive Medicine (BSRM), Antwerp, Belgium.

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

Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, J., Fock, J. M., BULK, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F., & Treves, S. (2019). Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation. doi:10.1002/humu.23745

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

Westra, D., Schouten, M. I., Stunnenberg, B. C., Kusters, B., Saris, C. G. J., Erasmus, C. E., van Engelen, B. G., BULK, S., Verschuuren-Bemelmans, C. C., Gerkes, E. H., de Geus, C., van der Zwaag, P. A., Chan, S., Chung, B., Barge-Schaapveld, D. Q. C. M., Kriek, M., Sznajer, Y., van Spaendonck-Zwarts, K., van der Kooi, A. J., & Voermans, N. C. (2019). Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. Journal of Neuromuscular Diseases, 6 (2), 241-258. doi:10.3233/JND-180376

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 session presented at 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 session presented at 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 session presented at 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 session presented at 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 session presented at Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

Muys, J., Blaumeiser, B., Jacquemyn, Y., Bandelier, C., Brison, N., BULK, S., Chiarappa, P., COURTENS, W., De Leener, A., De Rademaeker, M., Desir, J., Destree, A., Devriendt, K., Dheedene, A., Fieuw, A., Fransen, E., GATOT, J.-S., Holmgren, P., JAMAR, M., & Janssens, K. (2018). The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. Prenatal Diagnosis. doi:10.1002/pd.5373

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

Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., PIERQUIN, G., BULK, S., Larson, A. A., Chatfield, K. C., Simon, M., Legrand, A., Gerard, M., Symoens, S., & Malfait, F. (2018). Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Human Molecular Genetics, 27 (20), 3475-3487. doi:10.1093/hmg/ddy234

HARVENGT, J., SAGOT, C., Decortis, T., Damry, N., Rondia, CABERG, J.-H., Bours, V., & BULK, S. (27 May 2017). A tale of two anomalies. A paternal duplication and a maternal deletion of 15q13. Poster session presented at European Human Genetics Conference, Copenhague, Denmark.

BULK, S., & PIERQUIN, G. (04 February 2016). Dysmorphology Quiz. Paper presented at Dysmorphology Meeting.

PIERQUIN, G., CABERG, J.-H., & BULK, S. (03 February 2016). Microdélétions et duplications 22q11.22 distales. Poster session presented at 8èmes Assises de Génétique Humaine et Médicale, Lyon, France.

Magotteaux, S., BULK, S., FARHAT, N., SAKALIHASAN, N., Defraigne, J.-O., & Seghaye, M.-C. (2016). Le syndrome de Marfan chez l'enfant et l'adolescent : cas clinique. Revue Médicale de Liège, 71 (7-8), 342-348.

BULK, S., Decortis, T., Rondia, G., CABERG, J.-H., & Bours, V. (06 March 2015). A tale of two anomalies. A paternal duplication and a maternal deletion of 15q13. Poster session presented at 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium.

Uwineza, A., BULK, S., CABERG, J.-H., & PIERQUIN, G. (06 March 2015). A new case of microdeletion 14q32.3. Poster session presented at 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium.

BULK, S., PIERQUIN, G., GAILLEZ, S., GATOT, J.-S., CABERG, J.-H., & Bours, V. (07 February 2014). Evaluation of the distal 22q11 deletion syndrome. A highly variable phenotype. Poster session presented at 14th Belgium Society of Human Genetics Meeting.

Vanakker, O., Vilain, C., Janssens, K., Van der Aa, N., Smits, G., Bandelier, C., Blaumeiser, B., BULK, S., CABERG, J.-H., De Leener, A., De Rademaeker, M., de Ravel, T., Desir, J., Destree, A., Dheedene, A., GAILLEZ, S., Grisart, B., Hellin, A.-C., Janssens, S., & Devriendt, K. (2014). Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. European Journal of Medical Genetics, 57 (4), 151-6. doi:10.1016/j.ejmg.2014.02.002

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J., Nieuwint, A., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y., Wu, B.-L., Yu, T., & Sistermans, E. A. (2013). Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics, 92 (2), 210-20. doi:10.1016/j.ajhg.2012.12.011

Postma, A. V., Alders, M., Sylva, M., Bilardo, C. M., Pajkrt, E., van Rijn, R. R., Schulte-Merker, S., BULK, S., Stefanovic, S., Ilgun, A., Barnett, P., Mannens, M. M. A. M., Moorman, A. F. M., Oostra, R. J., & van Maarle, M. C. (2013). Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. Journal of Medical Genetics. doi:10.1136/jmedgenet-2013-102001

Stalpers, X. L., Verrips, A., Poll-The, B. T., Cobben, J.-M., Snoeck, I. N., de Coo, I. F. M., Brooks, A., BULK, S., Gooskens, R., Fock, A., Verschuuren-Bemelmans, C., Sinke, R. J., de Visser, M., & Lemmink, H. H. (2013). Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands. Neuromuscular Disorders, 23 (6), 461-8. doi:10.1016/j.nmd.2013.03.002

Rapcencu, A. E., Lindhout, D., & BULK, S. (2012). Frequently asked questions on epilepsy, pregnancy and lactation: a EURAP-NL report. Seizure: the Journal of the British Epilepsy Association, 21 (8), 606-9. doi:10.1016/j.seizure.2012.06.011

Rijkaart, D. C., Berkhof, J., van Kemenade, F. J., Coupe, V. M. H., Hesselink, A. T., Rozendaal, L., Heideman, D. A. M., Verheijen, R. H., BULK, S., Verweij, W. M., Snijders, P. J. F., & Meijer, C. J. L. M. (2012). Evaluation of 14 triage strategies for HPV DNA-positive women in population-based cervical screening. International Journal of Cancer, 130 (3), 602-10. doi:10.1002/ijc.26056

Rijkaart, D. C., Berkhof, J., van Kemenade, F. J., Coupe, V. M. H., Rozendaal, L., Heideman, D. A. M., Verheijen, R. H. M., BULK, S., Verweij, W., Snijders, P. J. F., & Meijer, C. J. L. M. (2012). HPV DNA testing in population-based cervical screening (VUSA-Screen study): results and implications. British Journal of Cancer, 106 (5), 975-81. doi:10.1038/bjc.2011.581

Lombardi, M. P., BULK, S., Celli, J., Lampe, A., Gabbett, M. T., Ousager, L. B., van der Smagt, J. J., Soller, M., Stattin, E.-L., Mannens, M. A. M. M., Smigiel, R., & Hennekam, R. C. (2011). Mutation update for the PORCN gene. Human Mutation, 32 (7), 723-8. doi:10.1002/humu.21505

de Leeuw, N., BULK, S., Green, A., Jaeckle-Santos, L., Baker, L. A., Zinn, A. R., Kleefstra, T., van der Smagt, J. J., Vianne Morgante, A. M., de Vries, B. B. A., van Bokhoven, H., & de Brouwer, A. P. M. (2010). UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. American Journal of Medical Genetics. Part A, 152A (12), 3084-90. doi:10.1002/ajmg.a.33743

Rijkaart, D. C., Berkhof, J., van Kemenade, F. J., Rozendaal, L., Verheijen, R. H. M., BULK, S., Herreilers, M. E., Verweij, W. M., Snijders, P. J. F., & Meijer, C. J. L. M. (2010). Comparison of HPV and cytology triage algorithms for women with borderline or mild dyskaryosis in population-based cervical screening (VUSA-screen study). International Journal of Cancer, 126 (9), 2175-81. doi:10.1002/ijc.24891

van den Broek, T., BULK, S., Pruijs, J. E. H., & Beek, F. J. A. (2009). Radiological "bone within a bone" appearance with atraumatic fractures. Postgraduate Medical Journal, 85 (1008), 514. doi:10.1136/pgmj.2008.075382

Wegner, I., Edelbroek, P. M., BULK, S., & Lindhout, D. (2009). Lamotrigine kinetics within the menstrual cycle, after menopause, and with oral contraceptives. Neurology, 73 (17), 1388-93. doi:10.1212/WNL.0b013e3181bd8295

BULK, S., Rozendaal, L., Zielinski, G. D., Berkhof, J., Daalmeijer, N. C. F., Snijders, P. J. F., van Kemenade, F. J., & Meijer, C. J. L. M. (2008). High-risk human papillomavirus is present in cytologically false-negative smears: an analysis of "normal" smears preceding CIN2/3. Journal of Clinical Pathology, 61 (3), 385-9. doi:10.1136/jcp.2006.045948

BULK, S., Berkhof, J., Rozendaal, L., Fransen Daalmeijer, N. C., Gok, M., de Schipper, F. A., van Kemenade, F. J., Snijders, P. J. F., & Meijer, C. J. L. M. (2007). The contribution of HPV18 to cervical cancer is underestimated using high-grade CIN as a measure of screening efficiency. British Journal of Cancer, 96 (8), 1234-6. doi:10.1038/sj.bjc.6603693

BULK, S., Bulkmans, N. W. J., Berkhof, J., Rozendaal, L., Boeke, A. J. P., Verheijen, R. H. M., Snijders, P. J. F., & Meijer, C. J. L. M. (2007). Risk of high-grade cervical intra-epithelial neoplasia based on cytology and high-risk HPV testing at baseline and at 6-months. International Journal of Cancer, 121 (2), 361-7. doi:10.1002/ijc.22677

Bulkmans, N. W. J., Berkhof, J., BULK, S., Bleeker, M. C. G., van Kemenade, F. J., Rozendaal, L., Snijders, P. J. F., & Meijer, C. J. L. M. (2007). High-risk HPV type-specific clearance rates in cervical screening. British Journal of Cancer, 96 (9), 1419-24. doi:10.1038/sj.bjc.6603653

Bulkmans, N. W. J., Berkhof, J., Rozendaal, L., van Kemenade, F. J., Boeke, A. J. P., BULK, S., Voorhorst, F. J., Verheijen, R. H. M., van Groningen, K., Boon, M. E., Ruitinga, W., van Ballegooijen, M., Snijders, P. J. F., & Meijer, C. J. L. M. (2007). Human papillomavirus DNA testing for the detection of cervical intraepithelial neoplasia grade 3 and cancer: 5-year follow-up of a randomised controlled implementation trial. Lancet, 370 (9601), 1764-72. doi:10.1016/S0140-6736(07)61450-0

Berkhof, J., Bulkmans, N. W. J., Bleeker, M. C. G., BULK, S., Snijders, P. J. F., Voorhorst, F. J., & Meijer, C. J. L. M. (2006). Human papillomavirus type-specific 18-month risk of high-grade cervical intraepithelial neoplasia in women with a normal or borderline/mildly dyskaryotic smear. Cancer Epidemiology, Biomarkers and Prevention, 15 (7), 1268-73. doi:10.1158/1055-9965.EPI-05-0764

BULK, S., Berkhof, J., Bulkmans, N. W. J., Zielinski, G. D., Rozendaal, L., van Kemenade, F. J., Snijders, P. J. F., & Meijer, C. J. L. M. (2006). Preferential risk of HPV16 for squamous cell carcinoma and of HPV18 for adenocarcinoma of the cervix compared to women with normal cytology in The Netherlands. British Journal of Cancer, 94 (1), 171-5. doi:10.1038/sj.bjc.6602915

Bulkmans, N. W. J., BULK, S., Ottevanger, M. S., Rozendaal, L., Hellenberg, S. M., van Kemenade, F. J., Snijders, P. J. F., Boeke, A. J. P., & Meijer, C. J. L. M. (2006). Implementation of human papillomavirus testing in cervical screening without a concomitant decrease in participation rate. Journal of Clinical Pathology, 59 (11), 1218-20. doi:10.1136/jcp.2005.031690

BULK, S., Visser, O., Rozendaal, L., Verheijen, R. H. M., & Meijer, C. J. L. M. (2005). Cervical cancer in the Netherlands 1989-1998: Decrease of squamous cell carcinoma in older women, increase of adenocarcinoma in younger women. International Journal of Cancer, 113 (6), 1005-9. doi:10.1002/ijc.20678

BULK, S., Van Kemenade, F. J., Rozendaal, L., & Meijer, C. J. L. M. (2004). The Dutch CISOE-A framework for cytology reporting increases efficacy of screening upon standardisation since 1996. Journal of Clinical Pathology, 57 (4), 388-93. doi:10.1136/jcp.2003.011841

van der Meer, I. M., Brouwers, G.-J., BULK, S., Leebeek, F. W. G., van der Kuip, D. A. M., Hofman, A., Witteman, J. C. M., & Gomez Garcia, E. B. (2004). Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study. British Journal of Haematology, 124 (3), 343-7. doi:10.1046/j.1365-2141.2003.04776.x

BULK, S., Visser, O., Rozendaal, L., Verheijen, R. H. M., & Meijer, C. J. L. M. (2003). Incidence and survival rate of women with cervical cancer in the Greater Amsterdam area. British Journal of Cancer, 89 (5), 834-9. doi:10.1038/sj.bjc.6601157

Brouwers, G. J., Vos, H. L., Leebeek, F. W., BULK, S., Schneider, M., Boffa, M., Koschinsky, M., van Tilburg, N. H., Nesheim, M. E., Bertina, R. M., & Gomez Garcia, E. B. (2001). A novel, possibly functional, single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels. Blood, 98 (6), 1992-3. doi:10.1182/blood.V98.6.1992

Lemstra, A. W., van Meegen, M. T., Vreyling, J. P., Meijerink, P. H., Jansen, G. H., BULK, S., Baas, F., & van Gool, W. A. (2000). 14-3-3 testing in diagnosing Creutzfeldt-Jakob disease: a prospective study in 112 patients. Neurology, 55 (4), 514-6. doi:10.1212/WNL.55.4.514