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1. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Author

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, and Banka, Siddharth

Published
2021
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2. Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Author

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, DʼHaene, Nicky, DʼOnle, 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, and Migeotte, Isabelle

Published
2022
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3. Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Author

Lumaka, Aimé, primary, Fasquelle, Corinne, additional, Debray, Francois-Guillaume, additional, Alkan, Serpil, additional, Jacquinet, Adeline, additional, Harvengt, Julie, additional, Boemer, François, additional, Mulder, André, additional, Vaessen, Sandrine, additional, Viellevoye, Renaud, additional, Palmeira, Leonor, additional, Charloteaux, Benoit, additional, Brysse, Anne, additional, Bulk, Saskia, additional, Rigo, Vincent, additional, and Bours, Vincent, additional

Published
2023
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4. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author

Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen

Published
2014
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7. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Author

Marangoni, Martina, primary, Smits, Guillaume, additional, Ceysens, Gilles, additional, Costa, Elena, additional, Coulon, Robert, additional, Daelemans, Caroline, additional, De Coninck, Caroline, additional, Derisbourg, Sara, additional, Gajewska, Kalina, additional, Garofalo, Giulia, additional, Gounongbe, Caroline, additional, Guizani, Meriem, additional, Holoye, Anne, additional, Houba, Catherine, additional, Makhoul, Jean, additional, Norgaard, Christian, additional, Regnard, Cecile, additional, Romée, Stephanie, additional, Soto, Jamil, additional, Stagel-Trabbia, Aurore, additional, Van Rysselberge, Michel, additional, Vercoutere, An, additional, Zaytouni, Siham, additional, Bouri, Sarah, additional, D'Haene, Nicky, additional, D'Onle, Dominique, additional, Dugauquier, Christian, additional, Racu, Marie-Lucie, additional, Rocq, Laureen, additional, Segers, Valérie, additional, Verocq, Camille, additional, Avni, Ephraim Freddy, additional, Cassart, Marie, additional, Massez, Anne, additional, Blaumeiser, Bettina, additional, Brischoux-Boucher, Elise, additional, Bulk, Saskia, additional, De Ravel, Thomy, additional, Debray, Guillaume, additional, Dimitrov, Boyan, additional, Janssens, Sandra, additional, Keymolen, Kathelijn, additional, Laterre, Marie, additional, van Berkel, Kim, additional, Van Maldergem, Lionel, additional, Vandernoot, Isabelle, additional, Vilain, Catheline, additional, Donner, Catherine, additional, Tecco, Laura, additional, Thomas, Dominique, additional, Désir, Julie, additional, Abramowicz, Marc, additional, and Migeotte, Isabelle, additional

Published
2022
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8. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, 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, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, 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, and Janssens, Katrien

Abstract

To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort. Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies. Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.

Published
2021

9. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Author

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, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-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, 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, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-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, and Migeotte, Isabelle

Abstract

We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

10. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Author

van Riel, Margot, primary, Brison, Nathalie, additional, Baetens, Machteld, additional, Blaumeiser, Bettina, additional, Boemer, François, additional, Bourlard, Laura, additional, Bulk, Saskia, additional, De Leener, Anne, additional, Désir, Julie, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Duquenne, Armelle, additional, Fieremans, Nathalie, additional, Fieuw, Annelies, additional, Gatot, Jean-Stéphane, additional, Grisart, Bernard, additional, Janssens, Sandra, additional, Khudashvili, Naïri, additional, Lannoo, Lore, additional, Marichal, Axel, additional, Meunier, Colombine, additional, Palmeira, Leonor, additional, Parijs, Ilse, additional, Pichon, Bruno, additional, Roets, Ellen, additional, Sammels, Eva, additional, Smits, Guillaume, additional, Suenaert, Marion, additional, Sznajer, Yves, additional, Van den Bogaert, Kris, additional, Vancoillie, Leen, additional, Vandeputte, Lotte, additional, Vantroys, Elise, additional, Vermeesch, Joris Robert, additional, and Janssens, Katrien, additional

Published
2021
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11. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, Janssens, Katrien, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, and Janssens, Katrien

Abstract

OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV). METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire. RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner. CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

Published
2020

12. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Author

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, Koelker, 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, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, 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, 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, Koelker, 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, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, 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., and Sahin, Mustafa

Abstract

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0-49.3 years). While the mean age at symptom onset was 0.8 +/- 0.6 years [standard deviation (SD), range 0.2-5.0], the mean age at diagnosis was 10.2 +/- 8.5 years (SD, range 0.1-46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 +/- 5.1 years, SD) and later tetraplegia (mean age: 16.1 +/- 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 +/- 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 +/- 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined th

Published
2020
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14. Mutation update for the PORCN gene

Author

Lombardi, Maria Paola, Bulk, Saskia, Celli, Jacopo, Lampe, Anne, Gabbett, Michael T., Ousager, Lillian Bomme, van der Smagt, Jasper J., Soller, Maria, Stattin, Eva-Lena, Mannens, Marcel A.M.M., Smigiel, Robert, and Hennekam, Raoul C.

Published
2011
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15. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Author

Ebrahimi-Fakhari, Darius, primary, Teinert, Julian, additional, Behne, Robert, additional, Wimmer, Miriam, additional, D'Amore, Angelica, additional, Eberhardt, Kathrin, additional, Brechmann, Barbara, additional, Ziegler, Marvin, additional, Jensen, Dana M, additional, Nagabhyrava, Premsai, additional, Geisel, Gregory, additional, Carmody, Erin, additional, Shamshad, Uzma, additional, Dies, Kira A, additional, Yuskaitis, Christopher J, additional, Salussolia, Catherine L, additional, Ebrahimi-Fakhari, Daniel, additional, Pearson, Toni S, additional, Saffari, Afshin, additional, Ziegler, Andreas, additional, Kölker, Stefan, additional, Volkmann, Jens, additional, Wiesener, Antje, additional, Bearden, David R, additional, Lakhani, Shenela, additional, Segal, Devorah, additional, Udwadia-Hegde, Anaita, additional, Martinuzzi, Andrea, additional, Hirst, Jennifer, additional, Perlman, Seth, additional, Takiyama, Yoshihisa, additional, Xiromerisiou, Georgia, additional, Vill, Katharina, additional, Walker, William O, additional, Shukla, Anju, additional, Dubey Gupta, Rachana, additional, Dahl, Niklas, additional, Aksoy, Ayse, additional, Verhelst, Helene, additional, Delgado, Mauricio R, additional, Kremlikova Pourova, Radka, additional, Sadek, Abdelrahim A, additional, Elkhateeb, Nour M, additional, Blumkin, Lubov, additional, Brea-Fernández, Alejandro J, additional, Dacruz-Álvarez, David, additional, Smol, Thomas, additional, Ghoumid, Jamal, additional, Miguel, Diego, additional, Heine, Constanze, additional, Schlump, Jan-Ulrich, additional, Langen, Hendrik, additional, Baets, Jonathan, additional, Bulk, Saskia, additional, Darvish, Hossein, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C, additional, Lim-Melia, Elizabeth, additional, Aydinli, Nur, additional, Alanay, Yasemin, additional, El-Rashidy, Omnia, additional, Nampoothiri, Sheela, additional, Patel, Chirag, additional, Beetz, Christian, additional, Bauer, Peter, additional, Yoon, Grace, additional, Guillot, Mireille, additional, Miller, Steven P, additional, Bourinaris, Thomas, additional, Houlden, Henry, additional, Robelin, Laura, additional, Anheim, Mathieu, additional, Alamri, Abdullah S, additional, Mahmoud, Adel A H, additional, Inaloo, Soroor, additional, Habibzadeh, Parham, additional, Faghihi, Mohammad Ali, additional, Jansen, Anna C, additional, Brock, Stefanie, additional, Roubertie, Agathe, additional, Darras, Basil T, additional, Agrawal, Pankaj B, additional, Santorelli, Filippo M, additional, Gleeson, Joseph, additional, Zaki, Maha S, additional, Sheikh, Sarah I, additional, Bennett, James T, additional, and Sahin, Mustafa, additional

Published
2020
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16. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

Author

Muys, Joke, primary, Jacquemyn, Yves, additional, Blaumeiser, Bettina, additional, Bourlard, Laura, additional, Brison, Nathalie, additional, Bulk, Saskia, additional, Chiarappa, Patrizia, additional, De Leener, Anne, additional, De Rademaeker, Marjan, additional, Désir, Julie, additional, Destrée, Anne, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Duquenne, Armelle, additional, Fieuw, Annelies, additional, Fransen, Erik, additional, Gatot, Jean‐Stéphane, additional, Jamar, Mauricette, additional, Janssens, Sandra, additional, Kerstjens, Jorien, additional, Keymolen, Kathelijn, additional, Lederer, Damien, additional, Menten, Björn, additional, Pichon, Bruno, additional, Rombout, Sonia, additional, Sznajer, Yves, additional, Van Den Bogaert, Ann, additional, Van Den Bogaert, Kris, additional, Vermeesch, Joris, additional, and Janssens, Katrien, additional

Published
2020
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20. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, Voermans, Nicol C., UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, and Voermans, Nicol C.

Abstract

Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows potential therapeutic trials. Objective: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children and adults with various neuromuscular symptoms. Methods: Clinical exome sequencing, followed by diagnostic interpretation of variants in genes associated with NMDs, was performed in a cohort of 396 patients suspected of having a genetic cause with a variable age of onset, neuromuscular phenotype, and inheritance pattern. Many had previously undergone targeted gene testing without results. Results: Disease-causing variants were identified in 75/396 patients (19%), with variants in the three COL6-genes (COL6A1, COL6A2 and COL6A3) as the most common cause of the identified muscle disorder, followed by variants in the RYR1 gene. Together, these four genes account for almost 25% of cases in whom a definite genetic cause was identified. Furthermore, likely pathogenic variants and/or variants of uncertain significance were identified in 95 of the patients (24%), in whom functional and/or segregation analysis should be used to confirm or reject the pathogenicity. In 18% of the cases with a disease-causing variant of which we received additional clinical information, we identified a genetic cause in genes of which the associated phenotypes did not match that of the patients. Hence, the advantage of panel-based WES is its unbiased approach. Conclusion: Whole exome sequencing, followed by filtering for NMD genes, offers an unbiased approach for the genetic diagnostics of NMD patients. This approach could be used as a first-tier test in neuromuscular disorders with a high suspicion of a genetic cause. With uncertain results, functional testing and segregation analysis are needed to complete t

Published
2019

21. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Author

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, 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, and Treves, Susan

Abstract

Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused by recessive variants in either SELENON, encoding the endoplasmic reticulum glycoprotein selenoprotein N or RYR1, encoding a protein involved in calcium homeostasis and excitation-contraction coupling. The mechanism by which recessive SELENON variants cause Multiminicore disease (MmD) is unclear. Here, we extensively investigated muscle physiological, biochemical and epigenetic modifications, including DNA methylation, histone modification, and noncoding RNA expression, to understand the pathomechanism of MmD. We identified biochemical changes that are common in patients harboring recessive RYR1 and SELENON variants, including depletion of transcripts encoding proteins involved in skeletal muscle calcium homeostasis, increased levels of Class II histone deacetylases (HDACs) and DNA methyltransferases. CpG methylation analysis of genomic DNA of patients with RYR1 and SELENON variants identified >3,500 common aberrantly methylated genes, many of which are involved in calcium signaling. These results provide the proof of concept for the potential use of drugs targeting HDACs and DNA methyltransferases to treat patients with specific forms of congenital myopathies.

Published
2019

24. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Author

Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destree, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauicette, 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, and Janssens, Katrien

Subjects
Human medicine, Biology
Abstract

Objective With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods The BElgian PREnatal MicroArray (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results In this three‐year period, 13266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs 31.5% would have remained undetected with NIPT as the first‐tier test. Conclusion The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype‐phenotype correlation.

Published
2018

25. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Author

Westra, Dineke, primary, Schouten, Meyke I., additional, Stunnenberg, Bas C., additional, Kusters, Benno, additional, Saris, Christiaan G.J., additional, Erasmus, Corrie E., additional, van Engelen, Baziel G., additional, Bulk, Saskia, additional, Verschuuren-Bemelmans, Corien C., additional, Gerkes, E.H., additional, de Geus, Christa, additional, van der Zwaag, P.A., additional, Chan, Sophelia, additional, Chung, Brian, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Kriek, Marjolein, additional, Sznajer, Yves, additional, van Spaendonck-Zwarts, Karin, additional, van der Kooi, Anneke J., additional, Krause, Amanda, additional, Schönewolf-Greulich, Bitten, additional, de Die-Smulders, Christine, additional, Sallevelt, Suzanne C.E.H., additional, Krapels, Ingrid P.C., additional, Rasmussen, Magnhild, additional, Maystadt, Isabelle, additional, Kievit, Anneke J.A., additional, Witting, Nanna, additional, Pennings, Maartje, additional, Meijer, Rowdy, additional, Gillissen, Christian, additional, Kamsteeg, Erik-Jan, additional, and Voermans, Nicol C., additional

Published
2019
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26. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N ‐ related myopathies

Author

Bachmann, Christoph, primary, Noreen, Faiza, additional, Voermans, Nicol C., additional, Schär, Primo L., additional, Vissing, John, additional, Fock, Johanna M., additional, Bulk, Saskia, additional, Kusters, Benno, additional, Moore, Steven A., additional, Beggs, Alan H., additional, Mathews, Katherine D., additional, Meyer, Megan, additional, Genetti, Casie A., additional, Meola, Giovanni, additional, Cardani, Rosanna, additional, Mathews, Emma, additional, Jungbluth, Heinz, additional, Muntoni, Francesco, additional, Zorzato, Francesco, additional, and Treves, Susan, additional

Published
2019
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27. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, 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, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, 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, and Janssens, Katrien

Abstract

OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. METHODS: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. RESULTS: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. CONCLUSION: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.

Published
2018

28. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Author

Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, Janssens, Katrien, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, and Janssens, Katrien

Abstract

Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation., SCOPUS: ar.j, DecretOANoAutActif, info:eu-repo/semantics/published

Published
2018

29. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

Author

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, Bulk, Saskia, Depierreux, Fr´ed´erique, Habibzadeh, Parham, Iyer, Anand S., Kaminska, Margaret, Kim, Soyoung, King, Staci D., Mierzewska, Hanna, Roubertie, Agathe, Santorelli, Filippo M., Shoukier, Moneef, Szczałuba, Krzysztof, Uysal, Sanem P., and van Ravenswaaij-Arts, Conny M.A.

Published
2021
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30. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6Avariants causing X-linked Kabuki syndrome type 2

Author

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, and Banka, Siddharth

Abstract

The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.

Published
2021
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31. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Author

Muys, Joke, primary, Blaumeiser, Bettina, additional, Jacquemyn, Yves, additional, Bandelier, Claude, additional, Brison, Nathalie, additional, Bulk, Saskia, additional, Chiarappa, Patrizia, additional, Courtens, Winnie, additional, De Leener, Anne, additional, De Rademaeker, Marjan, additional, Désir, Julie, additional, Destrée, Anne, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Fieuw, Annelies, additional, Fransen, Erik, additional, Gatot, Jean‐Stéphane, additional, Holmgren, Philip, additional, Jamar, Mauricette, additional, Janssens, Sandra, additional, Keymolen, Kathelijn, additional, Lederer, Damien, additional, Menten, Björn, additional, Meuwissen, Marije, additional, Parmentier, Benoit, additional, Pichon, Bruno, additional, Rombout, Sonia, additional, Sznajer, Yves, additional, Van Den Bogaert, Ann, additional, Van Den Bogaert, Kris, additional, Vanakker, Olivier, additional, Vermeesch, Joris, additional, and Janssens, Katrien, additional

Published
2018
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32. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome

Author

Van Damme, Tim, primary, Pang, Xiaomeng, additional, Guillemyn, Brecht, additional, Gulberti, Sandrine, additional, Syx, Delfien, additional, De Rycke, Riet, additional, Kaye, Olivier, additional, de Die-Smulders, Christine E M, additional, Pfundt, Rolph, additional, Kariminejad, Ariana, additional, Nampoothiri, Sheela, additional, Pierquin, Geneviève, additional, Bulk, Saskia, additional, Larson, Austin A, additional, Chatfield, Kathryn C, additional, Simon, Marleen, additional, Legrand, Anne, additional, Gerard, Marion, additional, Symoens, Sofie, additional, Fournel-Gigleux, Sylvie, additional, and Malfait, Fransiska, additional

Published
2018
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35. Clinical and Mutational Characteristics of SMARD1 Patients in the Netherlands

Author

Stalpers, Xenia, Verrips, Aad, Poll-The, Bwee-Tien, Cobben, Jan Maarten, Snoeck, Irina, De Coo, Ireneaus, Brooks, Alice, Bulk, Saskia, Gooskens, Rob, Fock, Annemarie, Verschuuren - Bemelmans, Corien, Sinke, Richard, de Visser, Marianne, Lemmink, Henny, and Ethical, Legal, Social Issues in Genetics (ELSI)

Published
2013

36. Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1.

Author

Barrea, Christophe, Vaessen, Sandrine, Bulk, Saskia, Harvengt, Julie, and Misson, Jean-Paul

Subjects
PHENOTYPES, NEUROFIBROMATOSIS 1, JUVENILE diseases, GENE expression, NEUROFIBROMIN, GENETICS
Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ~1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems. Some NF1 genotype-phenotype correlations have been described. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 52 NF1 patients from 45 families. [ABSTRACT FROM AUTHOR]

Published
2018
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37. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, Devriendt, Koen, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen

Abstract

After their successful introduction in postnatal testing, genome-wide arrays are now rapidly replacing conventional karyotyping in prenatal diagnostics. While previous studies have demonstrated the advantages of this method, we are confronted with difficulties regarding the technology and the ethical dilemmas inherent to genomic arrays. These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings. The experiences with these issues reported in the literature are most often from single centres. Here, we report on a national consensus approach how microarray is implemented in all genetic centres in Belgium. These recommendations are subjected to constant re-evaluation based on our growing experience and can serve as a useful tool for those involved in prenatal diagnosis. © 2014 Elsevier Masson SAS.

Published
2014

38. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Author

Beunders, Gea, primary, Voorhoeve, Els, additional, Golzio, Christelle, additional, Pardo, Luba M., additional, Rosenfeld, Jill A., additional, Talkowski, Michael E., additional, Simonic, Ingrid, additional, Lionel, Anath C., additional, Vergult, Sarah, additional, Pyatt, Robert E., additional, van de Kamp, Jiddeke, additional, Nieuwint, Aggie, additional, Weiss, Marjan M., additional, Rizzu, Patrizia, additional, Verwer, Lucilla E.N.I., additional, van Spaendonk, Rosalina M.L., additional, Shen, Yiping, additional, Wu, Bai-lin, additional, Yu, Tingting, additional, Yu, Yongguo, additional, Chiang, Colby, additional, Gusella, James F., additional, Lindgren, Amelia M., additional, Morton, Cynthia C., additional, van Binsbergen, Ellen, additional, Bulk, Saskia, additional, van Rossem, Els, additional, Vanakker, Olivier, additional, Armstrong, Ruth, additional, Park, Soo-Mi, additional, Greenhalgh, Lynn, additional, Maye, Una, additional, Neill, Nicholas J., additional, Abbott, Kristin M., additional, Sell, Susan, additional, Ladda, Roger, additional, Farber, Darren M., additional, Bader, Patricia I., additional, Cushing, Tom, additional, Drautz, Joanne M., additional, Konczal, Laura, additional, Nash, Patricia, additional, de Los Reyes, Emily, additional, Carter, Melissa T., additional, Hopkins, Elizabeth, additional, Marshall, Christian R., additional, Osborne, Lucy R., additional, Gripp, Karen W., additional, Thrush, Devon Lamb, additional, Hashimoto, Sayaka, additional, Gastier-Foster, Julie M., additional, Astbury, Caroline, additional, Ylstra, Bauke, additional, Meijers-Heijboer, Hanne, additional, Posthuma, Danielle, additional, Menten, Björn, additional, Mortier, Geert, additional, Scherer, Stephen W., additional, Eichler, Evan E., additional, Girirajan, Santhosh, additional, Katsanis, Nicholas, additional, Groffen, Alexander J., additional, and Sistermans, Erik A., additional

Published
2013
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39. Evaluation of 14 triage strategies for HPV DNA-positive women in population-based cervical screening

Author

Rijkaart, Dorien C., primary, Berkhof, Johannes, additional, van Kemenade, Folkert J., additional, Coupe, Veerle M.H., additional, Hesselink, Albertus T., additional, Rozendaal, Lawrence, additional, Heideman, Danielle A.M., additional, Verheijen, Ren H., additional, Bulk, Saskia, additional, Verweij, Wim M., additional, Snijders, Peter J.F., additional, and Meijer, Chris J.L.M., additional

Published
2011
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41. Comparison of HPV and cytology triage algorithms for women with borderline or mild dyskaryosis in population-based cervical screening (VUSA-screen study)

Author

Rijkaart, Dorien C., primary, Berkhof, Johannes, additional, van Kemenade, Folkert J., additional, Rozendaal, Lawrence, additional, Verheijen, René H.M., additional, Bulk, Saskia, additional, Herreilers, Miriam E., additional, Verweij, Wim M., additional, Snijders, Peter J.F., additional, and Meijer, Chris J.L.M., additional

Published
2009
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44. 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

Author

Brouwers, Geert-Jan, primary, Vos, Hans L., additional, Leebeek, Frank W. G., additional, Bulk, Saskia, additional, Schneider, Mark, additional, Boffa, Michael, additional, Koschinsky, Marlys, additional, van Tilburg, Nico H., additional, Nesheim, Michael E., additional, Bertina, Rogier M., additional, and Gómez Garcı́a, Encarnación B., additional

Published
2001
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46. research paper Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study.

Author

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., and García, Encarnacíon B. Gómez

Subjects
VON Willebrand factor, CORONARY disease, GENETIC polymorphisms, ATHEROSCLEROSIS, MEDICAL genetics, HEMATOLOGY
Abstract

The von Willebrand factor (VWF) may be causally associated with coronary heart disease (CHD) or merely be a marker of endothelial damage. The G allele of the − 1793 C/G promoter polymorphism in the VWF gene has been associated with higher plasma levels of VWF. To investigate whether VWF has a causal role in CHD, we designed a case-cohort study, including 352 subjects with CHD and a random cohort ( n = 736), and prospectively examined the association of the − 1793 C/G polymorphism with CHD in subjects with and without advanced atherosclerosis. All subjects were ≤75 years of age and participating in the population-based Rotterdam Study. Atherosclerosis was assessed by the ankle–arm index. Among subjects with advanced atherosclerosis, heterozygous and homozygous carriers of the G allele had a 3·5 (1·2–10·2) and 1·5 (0·4–5·7) fold increased risk of CHD respectively, compared with C/C homozygotes. The hazard ratio was 2·6 (1·0–6·8) for carriers of at least one copy of the G allele versus non-carriers. No associations were found in the absence of advanced atherosclerosis. In conclusion, this study suggests that the G allele of the − 1793 C/G polymorphism in the VWF gene is associated with an increased risk of CHD, but only in subjects with advanced atherosclerosis. [ABSTRACT FROM AUTHOR]

Published
2004
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47. UBE2Adeficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

Author

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, and de Brouwer, Arjan P.M.

Abstract

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non‐coding RNA genes, U1and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present in patients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2Adeficiency syndrome in male patients with a mutation in or a deletion of UBE2Ais characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. © 2010 Wiley‐Liss, Inc.

Published
2010
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