Lichtenbelt, Klaske D.

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

Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature

Pluripotent Stem Cells ResearchCongenital heart defects research

Cited by 690

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

van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., et al. (2019) · The American Journal of Human Genetics

Prenatal Screening and DiagnosticsGenomics and Rare Diseases

Cited by 372

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 249

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Villegas, F., Lehalle, D., Mayer, D., Rittirsch, M., Stadler, M. B., Zinner, M., Olivieri, D., Vabres, P., Duplomb-Jego, L., De Bont, E. S. J. M., et al. (2019) · Cell Stem Cell

Pluripotent Stem Cells ResearchDevelopmental Biology and Gene Regulation

Cited by 110

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

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 80

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

van Schendel, R. V., Page‐Christiaens, G. C. M. L., Beulen, L., Bilardo, C. M., de Boer, M. A., Coumans, A. B. C., Faas, B. H. W., van Langen, I. M., Lichtenbelt, K. D., van Maarle, M. C., et al. (2017) · Journal of Genetic Counseling

Prenatal Screening and DiagnosticsMaternal Mental Health During Pregnancy and Postpartum

Cited by 59