Defining the phenotypic spectrum of <i>SLC6A1</i> mutationsKatrine M. Johannesen, Guido Rubboli, Elena Gardella et al.|Epilepsia|2018Cited by 151
<i>DNM1</i> encephalopathySarah von Spiczak, Amy Wong Ten Yuen, Yoshimi Sagawa et al.|Neurology|2017Cited by 113
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne O’Donnell‐Luria, Kirsty McWalter, Lynn Pais et al.|The American Journal of Human Genetics|2019Cited by 99
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell ResolutionDeanne Taylor, Javad Nazarian, Bruce J. Aronow et al.|Developmental Cell|2019Cited by 68
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Mary A. O’Connell, Jiří Sedmík et al.|The American Journal of Human Genetics|2020Cited by 50