Keri Ramsey

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella et al. · Brain · 2017 · 158 citations · Full text

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

Erik G. Puffenberger, Kevin A. Strauss, Keri Ramsey et al. · Brain · 2007 · 118 citations · Full text

Mendelian Disorder, Single Nucleotide Polymorphism, Homozygous 7-Kilobase Deletion +11

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 107 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Mendelian Disorder +6

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 106 citations · Full text