From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Journal Article
Associations between Neonatal Magnetic Resonance Imaging and Short- and Long-Term Neurodevelopmental Outcomes in a Longitudinal Cohort of Very Preterm Children
Jansen, Lisette, van Steenis, Andrea, van den Berg-Huysmans, Annette A., Wiggers-de Bruine, Sica T., Rijken, Monique, de Vries, Linda S., Vermeiren, Robert R.J.M., Peeters-Scholte, Cacha M.P.C.D., Steggerda, Sylke J.
Published in The Journal of pediatrics (01.07.2021)
Published in The Journal of pediatrics (01.07.2021)
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Journal Article
Prenatal exome sequencing: A useful tool for the fetal neurologist
Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Journal Article
Combining advanced MRI and EEG techniques better explains long-term motor outcome after very preterm birth
van ’t Westende, Charlotte, Steggerda, Sylke J., Jansen, Lisette, van den Berg-Huysmans, Annette A., van de Pol, Laura A., Wiggers-de Bruine, Francisca T., Stam, Cornelis J., Peeters-Scholte, Cacha M. P. C. D.
Published in Pediatric research (01.06.2022)
Published in Pediatric research (01.06.2022)
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Journal Article
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
Koene, Saskia, Ropers, Fabiënne Gwendolin, Wieland, Jannelien, Rybak, Tamara, Wildschut, Floor, Berghuis, Dagmar, Morgan, Angela, Trelles, Maria Pilar, Scheepe, Jeroen Ronald, Bökenkamp, Regina, Peeters-Scholte, Cacha M P C D, Braden, Ruth, Santen, Gijs W E
Published in Journal of medical genetics (21.03.2024)
Published in Journal of medical genetics (21.03.2024)
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Journal Article
Pharmacokinetics and short-term safety of the selective NOS inhibitor 2-iminobiotin in asphyxiated neonates treated with therapeutic hypothermia
Favié, Laurent M. A., Peeters-Scholte, Cacha M. P. C. D., Bakker, Anouk, Tjabbes, Huibert, Egberts, Toine C. G., van Bel, Frank, Rademaker, Carin M. A., Vis, Peter, Groenendaal, Floris
Published in Pediatric research (01.03.2020)
Published in Pediatric research (01.03.2020)
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Journal Article
Recurrent Intracranial Hypertension in a Toddler with Graves’ Disease
Vuijk, Floris A., de Bruin, Christiaan, Peeters-Scholte, Cacha M.P.C.D., Notting, Irene C.
Published in Hormone research in paediatrics (01.05.2022)
Published in Hormone research in paediatrics (01.05.2022)
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Journal Article
Fetal brain imaging in isolated congenital heart defects - a systematic review and meta-analysis
Jansen, Fenna A. R., Everwijn, Sheila M. P., Scheepjens, Robert, Stijnen, Theo, Peeters-Scholte, Cacha M. P. C. D., van Lith, Jan M. M., Haak, Monique C.
Published in Prenatal diagnosis (01.07.2016)
Published in Prenatal diagnosis (01.07.2016)
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Journal Article
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Journal Article
Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates
Pijpers, Judith A., Au, Ping Yee Billie, Weeke, Lauren C., Vein, Alla A., Smit, Liesbeth S., Vilan, Ana, Jacobs, Elke, de Vries, Linda S., Steggerda, Sylke J., Cilio, Maria Roberta, Carapancea, Evelina, Cornet, Marie-Coralie, Appendino, Juan P., Peeters-Scholte, Cacha M.P.C.D.
Published in Seizure (London, England) (01.08.2023)
Published in Seizure (London, England) (01.08.2023)
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Journal Article
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Journal Article
Translation from animal to clinical studies, choosing the optimal moment
Favié, Laurent M. A., Peeters-Scholte, Cacha M. P. C. D., Bakker, Anouk, Tjabbes, Huibert, Egberts, Toine C. G., van Bel, Frank, Rademaker, Carin M. A., Vis, Peter, Groenendaal, Floris
Published in Pediatric research (01.12.2020)
Published in Pediatric research (01.12.2020)
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Journal Article
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication
Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, Vries, Linda S., Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda, Sylke J, van der Knaap, Marjo S, Santen, Gijs W E
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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Journal Article
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
The degree of prematurity affects functional brain activity in preterm born children at school-age: An EEG study
van 't Westende, Charlotte, Peeters-Scholte, Cacha M.P.C.D., Jansen, Lisette, van Egmond-van Dam, Janneke C., Tannemaat, Martijn R., de Bruïne, Francisca T., van den Berg-Huysmans, Annette A., Geraedts, Victor J., Gouw, Alida A., Steggerda, Sylke J., Stam, Cornelis J., van de Pol, Laura A.
Published in Early human development (01.09.2020)
Published in Early human development (01.09.2020)
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Journal Article
Nitric Oxide Synthase Inhibition as a Neuroprotective Strategy Following Hypoxic-Ischemic Encephalopathy: Evidence From Animal Studies
Favié, Laurent M A, Cox, Arlette R, van den Hoogen, Agnes, Nijboer, Cora H A, Peeters-Scholte, Cacha M P C D, van Bel, Frank, Egberts, Toine C G, Rademaker, Carin M A, Groenendaal, Floris
Published in Frontiers in neurology (19.04.2018)
Published in Frontiers in neurology (19.04.2018)
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Journal Article
Endovascular treatment of patients with stroke caused by anterior cerebral artery occlusions
Vos, Erik M., Kappelhof, Manon, den Hartog, Sanne J., Coutinho, Jonathan M., Emmer, Bart J., Roozenbeek, Bob, van Zwam, Wim H., van Oostenbrugge, Robert J., van der Worp, H. Bart, Uyttenboogaart, Maarten, van Es, Adriaan C. G. M., Majoie, Charles B. L. M., Dippel, Diederik W. J., Peeters-Scholte, Cacha M. P. C. D., van den Wijngaard, Ido R.
Published in Acta neurologica Belgica (01.04.2024)
Published in Acta neurologica Belgica (01.04.2024)
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Journal Article
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Journal Article