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American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.American Journal of Human Genetics|August 9, 2011
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisLenka Nosková, Viktor Stránecký, Hana Hartmannová, et al.American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.American Journal of Human Genetics|February 7, 2012
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylationMelanie A Jones, Bobby G Ng, Shruti Bhide, et al.American Journal of Human Genetics|February 21, 2012
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion positionLavinia Paternoster, Alexei I Zhurov, Arshed M Toma, et al.American Journal of Human Genetics|February 14, 2012
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes lociRicha Saxena, Clara C Elbers, Yiran Guo, et al.American Journal of Human Genetics|February 14, 2012
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseAnne Goriely, Andrew O M WilkieAmerican Journal of Human Genetics|February 14, 2012
Resequencing candidate genes implicates rare variants in asthma susceptibilityDara G Torgerson, Daniel Capurso, Rasika A Mathias, et al.American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.Pageof 979