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American Journal of Human Genetics|September 3, 2011
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2Shikma Mordechai, Libe Gradstein, Annika Pasanen, et al.
American Journal of Human Genetics|September 28, 2011
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionDiana C Blaydon, Daniela Nitoiu, Katja-Martina Eckl, et al.
American Journal of Human Genetics|November 15, 2011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsAleix Navarro-Sastre, Frederic Tort, Oliver Stehling, et al.
American Journal of Human Genetics|October 1, 1990
DNA haplotype analyses of patients with hyperphenylalaninemiaD Di Silvestre, A Pandya, R Koch, et al.
American Journal of Human Genetics|November 1, 1990
The pattern of factor IX germ-line mutation in Asians is similar to that of CaucasiansC D Bottema, R P Ketterling, H S Yoon, et al.
American Journal of Human Genetics|November 29, 2011
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletionsAndrew Dauber, Yongguo Yu, Michael C Turchin, et al.
American Journal of Human Genetics|December 6, 2011
Finding disease variants in Mendelian disorders by using sequence data: methods and applicationsIuliana Ionita-Laza, Vlad Makarov, Seungtai Yoon, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
American Journal of Human Genetics|November 27, 2012
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityJohn A McGrath, Kristina L Stone, Rumena Begum, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
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