Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours
Lumaka, Aimé, Fasquelle, Corinne, Debray, Francois-Guillaume, Alkan, Serpil, Jacquinet, Adeline, Harvengt, Julie, Boemer, François, Mulder, André, Vaessen, Sandrine, Viellevoye, Renaud, Palmeira, Leonor, Charloteaux, Benoit, Brysse, Anne, Bulk, Saskia, Rigo, Vincent, Bours, Vincent
Published in International journal of molecular sciences (16.02.2023)
Published in International journal of molecular sciences (16.02.2023)
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Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
Ebrahimi-Fakhari, Darius, Alecu, Julian E, Ziegler, Marvin, Geisel, Gregory, Jordan, Catherine, D'Amore, Angelica, Yeh, Rebecca C, Akula, Shyam K, Saffari, Afshin, Prabhu, Sanjay P, Sahin, Mustafa, Yang, Edward
Published in Neurology (09.11.2021)
Published in Neurology (09.11.2021)
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
Van Damme, Tim, Pang, Xiaomeng, Guillemyn, Brecht, Gulberti, Sandrine, Syx, Delfien, De Rycke, Riet, Kaye, Olivier, de Die-Smulders, Christine E M, Pfundt, Rolph, Kariminejad, Ariana, Nampoothiri, Sheela, Pierquin, Geneviève, Bulk, Saskia, Larson, Austin A, Chatfield, Kathryn C, Simon, Marleen, Legrand, Anne, Gerard, Marion, Symoens, Sofie, Fournel-Gigleux, Sylvie, Malfait, Fransiska
Published in Human molecular genetics (15.10.2018)
Published in Human molecular genetics (15.10.2018)
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Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy
Levaux, Joachim, Farhat, Nesrine, Van Casteren, Lieve, Bulk, Saskia, Seghaye, Marie-Christine
Published in Clinics and practice (26.08.2022)
Published in Clinics and practice (26.08.2022)
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Cervical cancer in the Netherlands 1989–1998: Decrease of squamous cell carcinoma in older women, increase of adenocarcinoma in younger women
Bulk, Saskia, Visser, Otto, Rozendaal, Lawrence, Verheijen, René H.M., Meijer, Chris J.L.M.
Published in International journal of cancer (01.03.2005)
Published in International journal of cancer (01.03.2005)
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Human Papillomavirus Type–Specific 18-Month Risk of High-Grade Cervical Intraepithelial Neoplasia in Women with a Normal or Borderline/Mildly Dyskaryotic Smear
BERKHOF, Johannes, BULKMANS, Nicole W. J, BLEEKER, Maaike C. G, BULK, Saskia, SNIJDERS, Peter J. F, VOORHORST, Feja J, MEIJER, Chris J. L. M
Published in Cancer epidemiology, biomarkers & prevention (01.07.2006)
Published in Cancer epidemiology, biomarkers & prevention (01.07.2006)
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UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients
de Leeuw, Nicole, Bulk, Saskia, Green, Andrew, Jaeckle-Santos, Lane, Baker, Linda A., Zinn, Andrew R., Kleefstra, Tjitske, van der Smagt, Jasper J., Vianne Morgante, Angela Maria, de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of medical genetics. Part A (01.12.2010)
Published in American journal of medical genetics. Part A (01.12.2010)
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Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study
Van Der Meer, Irene M., Brouwers, Geert‐Jan, Bulk, Saskia, Leebeek, Frank W. G., Van Der Kuip, Deirdre A. M., Hofman, Albert, Witteman, Jacqueline C. M., Gómez García, Encarnación B.
Published in British journal of haematology (01.02.2004)
Published in British journal of haematology (01.02.2004)
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Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1
Barrea, Christophe, Vaessen, Sandrine, Bulk, Saskia, Harvengt, Julie, Misson, Jean-Paul
Published in Neuropediatrics (01.06.2018)
Published in Neuropediatrics (01.06.2018)
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Evaluation of 14 triage strategies for HPV DNA-positive women in population-based cervical screening
Rijkaart, Dorien C., Berkhof, Johannes, van Kemenade, Folkert J., Coupe, Veerle M.H., Hesselink, Albertus T., Rozendaal, Lawrence, Heideman, Danielle A.M., Verheijen, Ren H., Bulk, Saskia, Verweij, Wim M., Snijders, Peter J.F., Meijer, Chris J.L.M.
Published in International journal of cancer (01.02.2012)
Published in International journal of cancer (01.02.2012)
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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
Bulkmans, NWJ, MD, Berkhof, J, PhD, Rozendaal, L, MD, van Kemenade, FJ, MD, Boeke, AJP, MD, Bulk, S, MD, Voorhorst, FJ, MD, Verheijen, RHM, Prof, van Groningen, K, MD, Boon, ME, MD, Ruitinga, W, MD, van Ballegooijen, M, MD, Snijders, PJF, Prof, Meijer, CJLM, Prof
Published in The Lancet (British edition) (24.11.2007)
Published in The Lancet (British edition) (24.11.2007)
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Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
van Riel, Margot, Brison, Nathalie, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bulk, Saskia, De Leener, Anne, Désir, Julie, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Sandra, Khudashvili, Naïri, Lannoo, Lore, Marichal, Axel, Meunier, Colombine, Palmeira, Leonor, Parijs, Ilse, Pichon, Bruno, Roets, Ellen, Sammels, Eva, Smits, Guillaume, Suenaert, Marion, Sznajer, Yves, Van den Bogaert, Kris, Vancoillie, Leen, Vandeputte, Lotte, Vantroys, Elise, Vermeesch, Joris Robert, Janssens, Katrien
Published in Obstetrics and gynecology (New York. 1953) (01.06.2021)
Published in Obstetrics and gynecology (New York. 1953) (01.06.2021)
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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraim Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, Donner, Catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, Migeotte, Isabelle
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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HPV DNA testing in population-based cervical screening (VUSA-Screen study): results and implications
RIJKAART, D. C, BERKHOF, J, MEIJER, Cjlm, KEMENADE, Fj Van, COUPE, Vmh, ROZENDAAL, L, HEIDEMAN, Dam, VERHEIJEN, Rhm, BULK, S, VERWEIJ, W, SNIJDERS, Pjf
Published in British journal of cancer (28.02.2012)
Published in British journal of cancer (28.02.2012)
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The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean‐Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, Janssens, Katrien
Published in Prenatal diagnosis (01.12.2018)
Published in Prenatal diagnosis (01.12.2018)
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies
Bachmann, Christoph, Noreen, Faiza, Voermans, Nicol C., Schär, Primo L., Vissing, John, Fock, Johanna M., Bulk, Saskia, Kusters, Benno, Moore, Steven A., Beggs, Alan H., Mathews, Katherine D., Meyer, Megan, Genetti, Casie A., Meola, Giovanni, Cardani, Rosanna, Mathews, Emma, Jungbluth, Heinz, Muntoni, Francesco, Zorzato, Francesco, Treves, Susan
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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