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dr. K.D. (Klaske) Lichtenbelt

dr. K.D. (Klaske) Lichtenbelt

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (71)

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing:Follow-up results of the TRIDENT-2 study

van Prooyen Schuurman Lisanne, Sistermans Erik A, Van Opstal Diane, Henneman Lidewij, Bekker Mireille N, Bax Caroline J, Pieters Mijntje J, Bouman Katelijne, de Munnik Sonja, den Hollander Nicolette S, Diderich Karin E M, Faas Brigitte H W, Feenstra Ilse, Go Attie T J I, Hoffer Mariëtte J V, Joosten Marieke, Komdeur Fenne L, Lichtenbelt Klaske D, Lombardi Maria P, Polak Marike G, Jehee Fernanda S, Schuring-Blom Heleen, Stevens Servi J C, Srebniak Malgorzata I, Suijkerbuijk Ron F, Tan-Sindhunata Gita M, van der Meij Karuna R M, van Maarle Merel C, Vernimmen Vivian, van Zelderen-Bhola Shama L, van Ravesteyn Nicolien T, Knapen Maarten F C M, Macville Merryn V E, Galjaard Robert-Jan H, 2 Jun 2022, In: American Journal of Human Genetics. 109 , p. 1140-1152 13 p.

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies:A Nationwide Genetic and Clinical Follow-Up Study

Heesterbeek Catharina J, Aukema Sietse M, Galjaard Robert-Jan H, Boon Elles M J, Srebniak Malgorzata I, Bouman Katelijne, Faas Brigitte H W, Govaerts Lutgarde C P, Hoffer Mariëtte J V, den Hollander Nicolette S, Lichtenbelt Klaske D, van Maarle Merel C, van Prooyen Schuurman Lisanne, van Rij Maartje C, Schuring-Blom G Heleen, Stevens Servi J C, Tan-Sindhunata Gita, Zamani Esteki Masoud, de Die-Smulders Christine E M, Tjan-Heijnen Vivianne C G, Henneman Lidewij, Sistermans Erik A, Macville Merryn V E, 8 Apr 2022, In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 40 , p. 2426-2435 10 p.

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

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, Thorarensen Ólafur, Ulmen Ulrike, Coene Karlien L M, Willemsen Michèl A, Lefeber Dirk J, van Karnebeek Clara D M Jun 2021, In: Frontiers in Neurology. 12 21 p.

Preimplantation Genetic Testing for Monogenic Kidney Disease

Snoek Rozemarijn, Stokman Marijn F, Lichtenbelt Klaske D, van Tilborg Theodora C, Simcox Cindy E, Paulussen Aimée D C, Dreesen Jos C M F, van Reekum Franka, Lely A Titia, Knoers Nine V A M, de Die-Smulders Christine E M, van Eerde Albertien M 27 Aug 2020, In: Clinical Journal of the American Society of Nephrology. 15 , p. 1279-1286 8 p.

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Nakashima Mitsuko, Kato Mitsuhiro, Matsukura Masaru, Kira Ryutaro, Ngu Lock-Hock, Lichtenbelt Klaske D, van Gassen Koen L I, Mitsuhashi Satomi, Saitsu Hirotomo, Matsumoto Naomichi 27 Apr 2020, In: Journal of Human Genetics. 65 , p. 727-734 8 p.

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

Deden Chantal, Neveling Kornelia, Zafeiropopoulou Dimitra, Gilissen Christian, Pfundt Rolph, Rinne Tuula, de Leeuw Nicole, Faas Brigitte, Gardeitchik Thatjana, Sallevelt Suzanne C E H, Paulussen Aimee, Stevens Servi J C, Sikkel Esther, Elting Mariet W, van Maarle Merel C, Diderich Karin E M, Corsten-Janssen Nicole, Lichtenbelt Klaske D, Lachmeijer Guus, Vissers Lisenka E L M, Yntema Helger G, Nelen Marcel, Feenstra Ilse, van Zelst-Stams Wendy A G 25 Apr 2020, In: Prenatal Diagnosis. 40 , p. 972-983 12 p.

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

Chilton Ilana, Okur Volkan, Vitiello Giuseppina, Selicorni Angelo, Mariani Milena, Goldenberg Alice, Husson Thomas, Campion Dominique, Lichtenbelt Klaske D, van Gassen Koen, Steinraths Michelle, Rice Jennifer, Roeder Elizabeth R, Littlejohn Rebecca O, Srour Myriam, Sebire Guillaume, Accogli Andrea, Héron Delphine, Heide Solveig, Nava Caroline, Depienne Christel, Larson Austin, Niyazov Dmitriy, Azage Meron, Hoganson George, Burton Jennifer, Rush Eric T, Jenkins Janda L, Saunders Carol J, Thiffault Isabelle, Alaimo Joseph T, Fleischer Julie, Groepper Daniel, Gripp Karen W, Chung Wendy K 7 Feb 2020, In: American Journal of Medical Genetics. Part A. 182 , p. 962-973 12 p.

TRIDENT-2:National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij Karuna R.M., Sistermans Erik A., Macville Merryn V.E., Stevens Servi J.C., Bax Caroline J., Bekker Mireille N., Bilardo Caterina M., Boon Elles M.J., Boter Marjan, Diderich Karin E.M., de Die-Smulders Christine E.M., Duin Leonie K., Faas Brigitte H.W., Feenstra Ilse, Haak Monique C., Hoffer Mariëtte J.V., den Hollander Nicolette S., Hollink Iris H.I.M., Jehee Fernanda S., Knapen Maarten F.C.M., Kooper Angelique J.A., van Langen Irene M., Lichtenbelt Klaske D., Linskens Ingeborg H., van Maarle Merel C., Oepkes Dick, Pieters Mijntje J., Schuring-Blom G. Heleen, Sikkel Esther, Sikkema-Raddatz Birgit, Smeets Dominique F.C.M., Srebniak Malgorzata I., Suijkerbuijk Ron F., Tan-Sindhunata Gita M., van der Ven A. Jeanine E.M., van Zelderen-Bhola Shama L., Henneman Lidewij, Galjaard Robert Jan H., Van Opstal Diane, Weiss Marjan M., 5 Dec 2019, In: American Journal of Human Genetics. 105 , p. 1091-1101 11 p.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Konrad Enrico D.H., Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L., Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E., Õunap Katrin, Pajusalu Sander, Wojcik Monica H., Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M., Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R., Ellingson Marissa S., Ferber Matthew J., Dhamija Radhika, Klee Eric W., McEntagart Meriel, Lichtenbelt Klaske D., Kenney Amy, Vergano Samantha A., Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J., Martin Richard J., Jongmans Marjolijn C.J., Chang Vivian Y., Martinez-Agosto Julian A., Kuismin Outi, Kurki Mitja I., Pietiläinen Olli, Palotie Aarno, Maarup Timothy J., Johnson Diana S., Brilstra Eva H., Dec 2019, In: Genetics in Medicine. 21 , p. 2723-2733 11 p.

De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Lehalle D., Vabres P., Bierhals T., Cho M. T., Cogne B., Avila M., Carmignac V., Duplomb-Jego L., De Bont E., Duffourd Y., Duijkers F., Elpeleg O., Fattal-Valevski A., Genevieve D., Guimier A., Harris D., Hempel M., Isidor B., Jouan T., Kuentz P., Lichtenbelt K., Ramey V. Loik, Pasquier L., St-Onge J., Sorlin A., Thevenon J., Torti E., Van Gassen K., Van Haelst M., van Koningsbruggen S., Riviere J., Thauvin C., Betschinger J., Faivre L. Oct 2019, In: European Journal of Human Genetics. 27 , p. 1094-1094

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