Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hans‐Hilger Ropers, Agnes Zecha et al.|Nature|2011Cited by 987
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual DisabilityLia Abbasi‐Moheb, Andreas W. Kuß, Sara Mertel et al.|The American Journal of Human Genetics|2012Cited by 273
Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 GeneJoanna Walczak‐Sztulpa, Andreas W. Kuß, Jonathan Eggenschwiler et al.|The American Journal of Human Genetics|2010Cited by 208
Mutations in the histamine<i>N</i>-methyltransferase gene,<i>HNMT</i>, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, John B. Vincent, Chanakan Tongsook et al.|Human Molecular Genetics|2015Cited by 33
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Ban A. Abdul–Majeed, Abolfazl Rad et al.|Brain|2023Cited by 19