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dr. K.D. (Klaske) Lichtenbelt

Assistant Professor - medical

  • Section Clinical Genetics

Research Output (64)

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

Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin

Hochstenbach Ron, Elferink Martin G, van Zon Patrick H A, Lichtenbelt Klaske D, van Harssel Jeske, Schuring-Blom Heleen, Page-Christiaens Godelieve C M L mei 2018, In: Clinical case reports. 6 , p. 788-791 4 p.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

van Rijn Jorik M., Ardy Rico Chandra, Kuloğlu Zarife, Härter Bettina, van Haaften-Visser Désirée Y., van der Doef Hubert P.J., van Hoesel Marliek, Kansu Aydan, van Vugt Anke H.M., Thian Marini, Kokke Freddy T.M., Krolo Ana, Başaran Meryem Keçeli, Kaya Neslihan Gurcan, Aksu Aysel Ünlüsoy, Dalgıç Buket, Ozcay Figen, Baris Zeren, Kain Renate, Stigter Edwin C.A., Lichtenbelt Klaske D., Massink Maarten P.G., Duran Karen J., Verheij Joke B.G.M., Lugtenberg Dorien, Nikkels Peter G.J., Brouwer Henricus G.F., Verkade Henkjan J., Scheenstra René, Spee Bart, Nieuwenhuis Edward E.S., Coffer Paul J., Janecke Andreas R., van Haaften Gijs, Houwen Roderick H.J., Müller Thomas, Middendorp Sabine, Boztug Kaan 28 mrt 2018, In: Gastroenterology. 155 , p. 130-143.e15