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dr. K.D. (Klaske) Lichtenbelt

dr. K.D. (Klaske) Lichtenbelt

Assistant Professor - medical

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Research Output (75)

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Hempel Maja, Cremer Kirsten, Ockeloen Charlotte W., Lichtenbelt Klaske D., Herkert Johanna C., Denecke Jonas, Haack Tobias B., Zink Alexander M., Becker Jessica, Wohlleber Eva, Johannsen Jessika, Alhaddad Bader, Pfundt Rolph, Fuchs Sigrid, Wieczorek Dagmar, Strom Tim M., Van Gassen Koen L I, Kleefstra Tjitske, Kubisch Christian, Engels Hartmut, Lessel Davor 3 Sep 2015, In: American Journal of Human Genetics. 97 , p. 493-500 8 p.

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Bayindir Baran, Dehaspe Luc, Brison Nathalie, Brady Paul, Ardui Simon, Kammoun Molka, van der Veken Lars, Lichtenbelt Klaske, van den Bogaert Kris, van Houdt Jeroen, Peeters Hilde, van Esch Hilde, de Ravel Thomy, Legius Eric, Devriendt Koen, Vermeesch Joris R. 14 Jan 2015, In: European Journal of Human Genetics. 23 , p. 1286-1293

Unexplained early-onset lacunar stroke and inflammatory skin lesions:Consider ADA2 deficiency

Westendorp Willeke F., Nederkoorn Paul J., Aksentijevich Ivona, Hak A. Elisabeth, Lichtenbelt Klaske D., Braun Kees P J 1 Jan 2015, In: Neurology. 84 , p. 2092-2093 2 p.

Etiology and pathogenesis of robin sequence in a large Dutch cohort

Basart Hanneke, Paes Emma C., Maas Saskia M., van den Boogaard Marie Jose H, van Hagen Johanna M., Breugem Corstiaan C., Cobben Jan Maarten, Griot J. Peter W Don, Lachmeijer Augusta M A, Lichtenbelt Klaske D., van Nunen DPF, van der Horst Chantal M., Hennekam Raoul C. 1 Jan 2015, In: American Journal of Medical Genetics. Part A. 167 , p. 1983-1992 10 p.

Detection of fetal chromosomal anomalies:Does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?

Lichtenbelt K. D., Diemel B. D M, Koster M. P H, Manten G. T R, Siljee J., Schuring-Blom G. H., Page-Christiaens G. C M L 1 Jan 2015, In: Prenatal Diagnosis. 35 , p. 663-668 6 p.

Unexplained False Negative Results in Noninvasive Prenatal Testing:Two Cases Involving Trisomies 13 and 18

Hochstenbach R, Page-Christiaens G C M L, van Oppen A C C, Lichtenbelt K D, van Harssel J J T, Brouwer T, Manten G T R, van Zon P, Elferink M, Kusters K, Akkermans O, Ploos van Amstel J K, Schuring-Blom G H 2015, In: Case reports in genetics. 2015 7 p.

Genomic and functional overlap between somatic and germline chromosomal rearrangements

van Heesch S.A.A.C., Simonis M.J., van Roosmalen M.J., Pillalamarri V., van den Brand H., Kuijk E.W., de Luca K.L., Lansu N., Braat A.K., Menelaou A., Hao W., Korving J., Snijder S., van der Veken L.T., Hochstenbach R., Knegt A.C., Duran K., Renkens I.J., Alekozai N., Jager M., Vergult S., Menten B., de Bruijn M.E., Boymans S., Ippel P.F., van Binsbergen E., Talkowski M.E., Lichtenbelt K.D., Cuppen E.P.J.G., Kloosterman W.P. 24 Dec 2014, In: Cell Reports [E]. 9 , p. 2001-10 10 p.

Noninvasive prenatal testing for fetal trisomies: a validation study using the SOLiD Wildfire

Elferink M.G., van Zon P.H.A, Akkermans O., Kusters K.A., van Haren-van 't Woud W., Page-Christiaens G.C.M.L., Lichtenbelt K.D., van Kempen M.J.A., Nijman I.J., van Haaften G.W., van der Zwaag B., Cuppen E.P.J.G. 31 May 2014,

Non-invasive prenatal testing of fetal aneuploidies and follow-up

Schuring - Blom H.G., van Zon P.H.A, Akkermans O., Kusters K.A., van Haren-van 't Woud W., de Bruijn E., Christiaens G.C.M.L., Lichtenbelt K.D., van Kempen M.J.A., Nijman I.J., van Haaften G.W., van der Zwaag B., Cuppen E.P.J.G., Ploos van Amstel J.K. 31 May 2014,

Non-invasive prenatal testing for fetal trisomies: avalidation study using the SOLiD Wildfire platform

Elferink M.G., de Bruijn E., Akkermans O., van Tuil M.C., Kusters K.A., Page - Christiaens G.C.M.L., Lichtenbelt K.D., Nijman I.J., van Haaften G.W., van der Zwaag B., van Kempen M.J.A., Cuppen E.P.J.G., Ploos van Amstel J.K., Schuring - Blom H.G. 31 May 2014,

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