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Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.Human Mutation|April 30, 2014
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous familiesHana Abouzeid, Tatiana Favez, Angélique Schmid, et al.Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.Human Mutation|November 22, 2012
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymesMichael L Nickerson, Allen D Bosley, Jayne S Weiss, et al.Human Mutation|June 14, 2012
Molecular characterization of Joubert syndrome in Saudi ArabiaAnas M Alazami, Muneera J Alshammari, Mustafa A Salih, et al.Human Mutation|April 11, 2012
Splice site, frameshift, and chimeric GFAP mutations in Alexander diseaseDaniel Flint, Rong Li, Lital S Webster, et al.Human Mutation|September 13, 2014
Mutation Update for UBE3A variants in Angelman syndromeBekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, et al.Human Mutation|September 16, 2014
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brainMatthew McKenzie, Maria Chiotis, Jana Hroudová, et al.Human Mutation|September 16, 2014
GNAS mutations in Pseudohypoparathyroidism type 1a and related disordersManuel C Lemos, Rajesh V ThakkerPageof 583