Lakeman, Phillis
Amsterdam University Medical Centers · University of Amsterdam
3 papers on CoChatORCID 0000-0001-6385-1804
Most cited papers
- Verified
Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain
Epilepsy research and treatmentIon channel regulation and function
Cited by 147
- Verified
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 107
- Verified
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities
Cited by 63
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