Phillis Lakeman

Responsible implementation of expanded carrier screening

Lidewij Henneman, Pascal Borry, Davit Chokoshvili et al. · European Journal of Human Genetics · 2016 · 333 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

Pascal Borry, Lidewij Henneman, Phillis Lakeman et al. · Human Reproduction · 2011 · 140 citations · Full text

Life Sciences, Genetics, Health Policy +12

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +13