Works by Lichtenbelt, Klaske D.

Results: 22
    1

    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

    Published in:
    European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2683, doi. 10.1007/s00431-023-04909-1
    By:
    • Olde Keizer, Richelle A. C. M.;
    • Marouane, Abderrahim;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Deden, A. Chantal;
    • Lichtenbelt, Klaske D.;
    • Jonckers, Tinneke;
    • Vervoorn, Marieke;
    • Vreeburg, Maaike;
    • Henneman, Lidewij;
    • de Vries, Linda S.;
    • Sinke, Richard J.;
    • Pfundt, Rolph;
    • Stevens, Servi J. C.;
    • Andriessen, Peter;
    • van Lingen, Richard A.;
    • Nelen, Marcel;
    • Scheffer, Hans;
    • Stemkens, Daphne;
    • Oosterwijk, Cor;
    • van Amstel, Hans Kristian Ploos
    Publication type:
    Article
    2

    The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study.

    Published in:
    Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 153, doi. 10.1002/jgc4.1631
    By:
    • Severijns, Yil;
    • Heijmans, Maartje W. F.;
    • de Die‐Smulders, Christine E. M.;
    • Bijlsma, Emilia K.;
    • Corsten‐Janssen, Nicole;
    • Joosten, Sara J. R.;
    • van Kuijk, Sander M. J.;
    • Lichtenbelt, Klaske D.;
    • Ottenheim, Cecile P. E.;
    • Stuurman, Kyra E.;
    • Tan‐Sindhunata, Gita M. B.;
    • de Vries, Hein;
    • van Osch, Liesbeth A. D. M.
    Publication type:
    Article
    3

    Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

    Published in:
    Nature, 2010, v. 465, n. 7299, p. 808, doi. 10.1038/nature09005
    By:
    • Carvajal-Vergara, Xonia;
    • Sevilla, Ana;
    • D'Souza, Sunita L.;
    • Ang, Yen-Sin;
    • Schaniel, Christoph;
    • Lee, Dung-Fang;
    • Lei Yang;
    • Kaplan, Aaron D.;
    • Adler, Eric D.;
    • Rozov, Roye;
    • YongChao Ge;
    • Cohen, Ninette;
    • Edelmann, Lisa J.;
    • Chang, Betty;
    • Waghray, Avinash;
    • Jie Su;
    • Pardo, Sherly;
    • Lichtenbelt, Klaske D.;
    • Tartaglia, Marco;
    • Gelb, Bruce D.
    Publication type:
    Article
    4

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640
    By:
    • den Hollander, Bibiche;
    • Rasing, Anne;
    • Post, Merel A.;
    • Klein, Willemijn M.;
    • Oud, Machteld M.;
    • Brands, Marion M.;
    • de Boer, Lonneke;
    • Engelke, Udo F. H.;
    • van Essen, Peter;
    • Fuchs, Sabine A.;
    • Haaxma, Charlotte A.;
    • Jensson, Brynjar O.;
    • Kluijtmans, Leo A. J.;
    • Lengyel, Anna;
    • Lichtenbelt, Klaske D.;
    • Østergaard, Elsebet;
    • Peters, Gera;
    • Salvarinova, Ramona;
    • Simon, Marleen E. H.;
    • Stefansson, Kari
    Publication type:
    Article
    5

    Identification of human D lactate dehydrogenase deficiency.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
    By:
    • Monroe, Glen R.;
    • van Eerde, Albertien M.;
    • Tessadori, Federico;
    • Duran, Karen J.;
    • Savelberg, Sanne M. C.;
    • van Alfen, Johanna C.;
    • Terhal, Paulien A.;
    • van der Crabben, Saskia N.;
    • Lichtenbelt, Klaske D.;
    • Fuchs, Sabine A.;
    • Gerrits, Johan;
    • van Roosmalen, Markus J.;
    • van Gassen, Koen L.;
    • van Aalderen, Mirjam;
    • Koot, Bart G.;
    • Oostendorp, Marlies;
    • Duran, Marinus;
    • Visser, Gepke;
    • de Koning, Tom J.;
    • Calì, Francesco
    Publication type:
    Article
    6
    7

    Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

    Published in:
    2016
    By:
    • Schendel, Rachèl V.;
    • Page‐Christiaens, G. C. (Lieve);
    • Beulen, Lean;
    • Bilardo, Catia M.;
    • Boer, Marjon A.;
    • Coumans, Audrey B. C.;
    • Faas, Brigitte H.;
    • Langen, Irene M.;
    • Lichtenbelt, Klaske D.;
    • Maarle, Merel C.;
    • Macville, Merryn V. E.;
    • Oepkes, Dick;
    • Pajkrt, Eva;
    • Henneman, Lidewij;
    • van Schendel, Rachèl V;
    • Page-Christiaens, G C Lieve;
    • de Boer, Marjon A;
    • van Langen, Irene M;
    • van Maarle, Merel C;
    • Dutch NIPT Consortium
    Publication type:
    journal article
    8
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    11
    12

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    2010
    By:
    • van Bon, Bregje W M;
    • Koolen, David A;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D;
    • Adès, Lesley C;
    • Peters, Gregory;
    • Gibson, Kate;
    • Moloney, Susan;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph
    Publication type:
    Correction Notice
    13

    The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
    By:
    • Paulussen, Aimée D. C.;
    • Schrander-Stumpel, Constance T.;
    • Tserpelis, Demis C. J.;
    • Spee, Matteus K. M.;
    • Stegmann, Alexander P. A.;
    • Mancini, Grazia M.;
    • Brooks, Alice S.;
    • Collée, Margriet;
    • Maat-Kievit, Anneke;
    • Simon, Marleen E. H.;
    • van Bever, Yolande;
    • Stolte-Dijkstra, Irene;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Herkert, Johanna C.;
    • van Essen, Anthonie J.;
    • Lichtenbelt, Klaske D.;
    • van Haeringen, Arie;
    • Kwee, Mei L.;
    • Lachmeijer, Augusta M. A.;
    • Tan-Sindhunata, Gita M. B.
    Publication type:
    Article
    14

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152
    By:
    • van Bon, Bregje W. M.;
    • Koolen, David A.;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D.;
    • Adès, Lesley C.;
    • Peters, Gregory;
    • Gibson, Kate;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph;
    • de Brouwer, Arjan P.
    Publication type:
    Article
    15

    Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    2010
    By:
    • van Bon, Bregje W. M.;
    • Koolen, David A.;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D.;
    • Adès, Lesley C.;
    • Peters, Gregory;
    • Gibson, Kate;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph;
    • de Brouwer, Arjan P.
    Publication type:
    Correction Notice
    16

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

    Published in:
    2020
    By:
    • Deden, Chantal;
    • Neveling, Kornelia;
    • Zafeiropopoulou, Dimitra;
    • Gilissen, Christian;
    • Pfundt, Rolph;
    • Rinne, Tuula;
    • Leeuw, Nicole;
    • Faas, Brigitte;
    • Gardeitchik, Thatjana;
    • Sallevelt, Suzanne C. E. H.;
    • Paulussen, Aimee;
    • Stevens, Servi J. C.;
    • Sikkel, Esther;
    • Elting, Mariet W.;
    • Maarle, Merel C.;
    • Diderich, Karin E. M.;
    • Corsten‐Janssen, Nicole;
    • Lichtenbelt, Klaske D.;
    • Lachmeijer, Guus;
    • Vissers, Lisenka E. L. M.
    Publication type:
    journal article
    17

    Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

    Published in:
    Rheumatology, 2016, v. 55, n. 5, p. 902, doi. 10.1093/rheumatology/kev439
    By:
    • Van Montfrans, Joris M.;
    • Hartman, Esther A. R.;
    • Braun, Kees P. J.;
    • Hennekam, Eric A. M.;
    • Hak, Elisabeth A.;
    • Nederkoorn, Paul J.;
    • Westendorp, Willeke F.;
    • Bredius, Robbert G. M.;
    • Kollen, Wouter J. W.;
    • Schölvinck, Elisabeth H.;
    • Legger, G. Elizabeth;
    • Meyts, Isabelle;
    • Liston, Adrian;
    • Lichtenbelt, Klaske D.;
    • Giltay, Jacques C.;
    • Van Haaften, Gijs;
    • De Vries Simons, Gaby M.;
    • Leavis, Helen;
    • Sanders, Cornelis J. G.;
    • Bierings, Marc B.
    Publication type:
    Article
    18

    De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
    By:
    • Chilton, Ilana;
    • Okur, Volkan;
    • Vitiello, Giuseppina;
    • Selicorni, Angelo;
    • Mariani, Milena;
    • Goldenberg, Alice;
    • Husson, Thomas;
    • Campion, Dominique;
    • Lichtenbelt, Klaske D.;
    • Gassen, Koen;
    • Steinraths, Michelle;
    • Rice, Jennifer;
    • Roeder, Elizabeth R.;
    • Littlejohn, Rebecca O.;
    • Srour, Myriam;
    • Sebire, Guillaume;
    • Accogli, Andrea;
    • Héron, Delphine;
    • Heide, Solveig;
    • Nava, Caroline
    Publication type:
    Article
    19

    Etiology and pathogenesis of robin sequence in a large Dutch cohort.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
    By:
    • Basart, Hanneke;
    • Paes, Emma C.;
    • Maas, Saskia M.;
    • van den Boogaard, Marie‐Jose H.;
    • van Hagen, Johanna M.;
    • Breugem, Corstiaan C.;
    • Cobben, Jan Maarten;
    • Don Griot, J. Peter W.;
    • Lachmeijer, Augusta M. A.;
    • Lichtenbelt, Klaske D.;
    • van Nunen, Daan P. F.;
    • van der Horst, Chantal M.;
    • Hennekam, Raoul C.
    Publication type:
    Article
    20
    21

    The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status.

    Published in:
    Reproductive Sciences, 2023, v. 30, n. 1, p. 270, doi. 10.1007/s43032-022-00997-w
    By:
    • C.E, Drechsel Katja;
    • C., van Tilborg Theodora;
    • J.C., Eijkemans Marinus;
    • G.W.M., Lentjes Eef;
    • Irene, Homminga;
    • Mariette, Goddijn;
    • J.T., van Golde Ron;
    • Willem, Verpoest;
    • D., Lichtenbelt Klaske;
    • J.M., Broekmans Frank;
    • M.E., Bos Anna
    Publication type:
    Article
    22

    Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

    Published in:
    2019
    By:
    • Houweling, Arjan C.;
    • Beaman, Glenda M.;
    • Postma, Alex V.;
    • Gainous, T. Blair;
    • Lichtenbelt, Klaske D.;
    • Brancati, Francesco;
    • Lopes, Filipa M.;
    • van der Made, Ingeborg;
    • Polstra, Abeltje M.;
    • Robinson, Michael L.;
    • Wright, Kevin D.;
    • Ellingford, Jamie M.;
    • Jackson, Ashley R.;
    • Overwater, Eline;
    • Genesio, Rita;
    • Romano, Silvio;
    • Camerota, Letizia;
    • D'Angelo, Emanuela;
    • Meijers-Heijboer, Elizabeth J.;
    • Christoffels, Vincent M.
    Publication type:
    journal article