Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V. Harlalka, Andrew H. Crosby, Harold E. Cross et al.|Brain|2013Cited by 143
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesPeter De Jonghe, Jonathan Baets, Michaela Auer‐Grumbach et al.|Brain|2010Cited by 134
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Karen Liu, Athina Ververi et al.|Human Molecular Genetics|2020Cited by 42