Revisiting Mendelian disorders through exome sequencing Chee-Seng KuNasheen NaidooYudi Pawitan Review Paper 18 February 2011 Pages: 351 - 370
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice Angelica NordinElin LarssonMonica Holmberg Original Investigation 17 December 2010 Pages: 371 - 378
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2 Sulman BasitKwanghyuk LeeSuzanne M. Leal Original Investigation 22 December 2010 Pages: 379 - 385
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy Alix de BecdelièvreCatherine CostaEmmanuelle Girodon Original Investigation 24 December 2010 Pages: 387 - 396
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 Emad MuhammadNeta LeventhalRuti Parvari Original Investigation 24 December 2010 Pages: 397 - 405
Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions Yann C. KlimentidisMarshall AbramsDavid B. Allison Original Investigation 28 December 2010 Pages: 407 - 418
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Naveed WasifSyed Kamran ul-Hassan NaqviWasim Ahmad Original Investigation 28 December 2010 Pages: 419 - 424
Distribution of the number of false discoveries in large-scale family-based association testing with application to the association between PTPN1 and hypertension and obesity Wen-Chang WangChao A. HsiungI-Shou Chang Original Investigation 29 December 2010 Pages: 425 - 432
Characterization of the ZBTB42 gene in humans and mice Stephanie A. DevaneySuzanne E. MateEric P. Hoffman Original Investigation Open access 31 December 2010 Pages: 433 - 441
Model-based prediction of human hair color using DNA variants Wojciech BranickiFan LiuManfred Kayser Original Investigation Open access 04 January 2011 Pages: 443 - 454
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients Pen-Hua SuJia-Yuh ChenShun-Fa Yang Original Investigation 05 January 2011 Pages: 455 - 462
Rebecca Skloot: The immortal life of Henrietta Lacks Peter S. Harper Book Review 30 January 2011 Pages: 463 - 464