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dr. K.D. (Klaske) Lichtenbelt

Assistant Professor - medical

  • Section Clinical Genetics

Research Programs

Research Output (66)

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. okt 2019, In: European Journal of Human Genetics. 27 , p. 1094-1094

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

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, McHugh Kirk M, Black Brian L, Newman William G, Woolf Adrian S, Creemers Esther E 12 sep 2019, In: Journal of Clinical Investigation. 129 , p. 5374-5380 7 p.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Fountain Michael D., Oleson David S., Rech Megan E., Segebrecht Lara, Hunter Jill V., McCarthy John M., Lupo Philip J., Holtgrewe Manuel, Moran Rocio, Rosenfeld Jill A., Isidor Bertrand, Le Caignec Cédric, Saenz Margarita S., Pedersen Robert C., Morgan Thomas M., Pfotenhauer Jean P., Xia Fan, Bi Weimin, Kang Sung Hae L., Patel Ankita, Krantz Ian D., Raible Sarah E., Smith Wendy, Cristian Ingrid, Torti Erin, Juusola Jane, Millan Francisca, Wentzensen Ingrid M., Person Richard E., Küry Sébastien, Bézieau Stéphane, Uguen Kévin, Férec Claude, Munnich Arnold, van Haelst Mieke, Lichtenbelt Klaske D., van Gassen Koen, Hagelstrom Tanner, Chawla Aditi, Perry Denise L., Taft Ryan J., Jones Marilyn, Masser-Frye Diane, Dyment David, Venkateswaran Sunita, Li Chumei, Escobar Luis F., Horn Denise, Spillmann Rebecca C., Peña Loren, Wierzba Jolanta, Strom Tim M., Parenti Ilaria, Kaiser Frank J., Ehmke Nadja, Schaaf Christian P. 1 aug 2019, In: Genetics in Medicine. 21 , p. 1797-1807 11 p.

Identification of human D lactate dehydrogenase deficiency

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, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 apr 2019, In: Nature Communications. 10

Symmetrical Thalamic Lesions in the Newborn:A Case Series

Pols T, de Vries L S, Salamon A Soltirovska, Nikkels P G J, Lichtenbelt K D, Mulder-de Tollenaer S M, Wezel-Meijler G van 26 mrt 2019, In: Neuropediatrics. 50 , p. 152-159 8 p.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Villegas Florian, Lehalle Daphné, Mayer Daniela, Rittirsch Melanie, Stadler Michael B., Zinner Marietta, Olivieri Daniel, Vabres Pierre, Duplomb-Jego Laurence, De Bont Eveline S.J.M., Duffourd Yannis, Duijkers Floor, Avila Magali, Geneviève David, Houcinat Nada, Jouan Thibaud, Kuentz Paul, Lichtenbelt Klaske D., Thauvin-Robinet Christel, St-Onge Judith, Thevenon Julien, van Gassen Koen L.I., van Haelst Mieke, van Koningsbruggen Silvana, Hess Daniel, Smallwood Sebastien A., Rivière Jean Baptiste, Faivre Laurence, Betschinger Joerg 7 feb 2019, In: Cell Stem Cell. 24 , p. 257-270.e8

All Research Output (66)