<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Anna-Elina Lehesjoki, Hongjie Yuan et al.|Journal of Medical Genetics|2017Cited by 254
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to <i>TGFBR1</i> or <i>TGFBR2</i> mutationsVan Tran‐Fadulu, Dianna M. Milewicz, H. Pannu et al.|Journal of Medical Genetics|2009Cited by 187
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndromeLaura M. McDonell, Kym M. Boycott, Ghayda Mirzaa et al.|Nature Genetics|2013Cited by 116
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Heiko Reutter, Dong Li et al.|Science Advances|2020Cited by 99
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Christopher Gray, Tojo Nakayama et al.|Genetics in Medicine|2021Cited by 91