A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung CancerBIN LIU; LEI YANG; WEIDONG JI et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 384-390, issn 0002-9297, 7 p.Article

A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive AzoospermiaHAN ZHAO; JIANFENG XU; LI YOU et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 900-906, issn 0002-9297, 7 p.Article

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome SystemSTAROPOLI, John F; KARAA, Amel; MACDONALD, Marcy E et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 202-208, issn 0002-9297, 7 p.Article

ABCB6 Mutations Cause Ocular ColobomaLEJING WANG; FEI HE; JING LI et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 40-48, issn 0002-9297, 9 p.Article

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal DefectsACKERMAN, Christine; LOCKE, Adam E; REEVES, Roger H et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 646-659, issn 0002-9297, 14 p.Article

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based RearrangementsFROYEN, Guy; BELET, Stefanie; GONCALVES PIMENTEL, Marcia Mattos et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 252-264, issn 0002-9297, 13 p.Article

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of GlycosylationJONES, Melanie A; NG, Bobby G; FREEZE, Hudson H et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 363-368, issn 0002-9297, 6 p.Article

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical CoresMAJCZENKO, Karen; DAVIDSON, Ann E; LI, Jun Z et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 365-371, issn 0002-9297, 7 p.Article

Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant AssociationsLIU, Dajiang J; LEAL, Suzanne M.American journal of human genetics. 2012, Vol 91, Num 4, pp 585-596, issn 0002-9297, 12 p.Article

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and MyelodysplasiaKIRWAN, Michael; WALNE, Amanda J; PLAGNOL, Vincent et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 888-892, issn 0002-9297, 5 p.Article

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic OsteoarthropathyZHENLIN ZHANG; WEIBO XIA; WENZHEN FU et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 125-132, issn 0002-9297, 8 p.Article

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type VBEETZ, Christian; PIEBER, Thomas R; VARGA, Rita-Eva et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 139-145, issn 0002-9297, 7 p.Article

Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in HumansKOSOVA, Gülüm; SCOTT, Nicole M; NIEDERBERGER, Craig et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 950-961, issn 0002-9297, 12 p.Article

Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer SyndromeTANAKA, Akio; WEINEL, Sarah; YANASE, Yuhki et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 511-517, issn 0002-9297, 7 p.Article

Imputation of Exome Sequence Variants into Population-Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing ProjectAUER, Paul L; JOHNSEN, Jill M; RICH, Stephen S et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 794-808, issn 0002-9297, 15 p.Article

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers SyndromeMAYR, Johannes A; HAACK, Tobias B; MORONI, Isabella et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 314-320, issn 0002-9297, 7 p.Article

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal DysplasiaZHIMIAOLIN; QUANCHEN; RUO XIAO et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 906-911, issn 0002-9297, 6 p.Article

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous AltaiansDULIK, Matthew C; ZHADANOV, Sergey I; OSIPOVA, Ludmila P et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 229-246, issn 0002-9297, 18 p.Article

Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester SyndromeEVANS, Brad R; MOSIG, Rebecca A; LOBL, Mollie et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 572-576, issn 0002-9297, 5 p.Article

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial DiseaseINDRIERI, Alessia; VAN RAHDEN, Vanessa Alexandra; ZVULUNOV, Alex et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 942-949, issn 0002-9297, 8 p.Article

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium SyndromeKALAY, Ersan; SEZGIN, Orhan; ASLAN, Yakup et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 76-85, issn 0002-9297, 10 p.Article

Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeSCHOSSIG, Anna; WOLF, Nicole I; HABERLANDT, Edda et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 701-707, issn 0002-9297, 7 p.Article

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME SyndromeNG, Bobby G; HACKMANN, Karl; SCHNUR, Rhonda E et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 685-688, issn 0002-9297, 4 p.Article

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial DwarfismSHAHEEN, Ranad; FAQEIH, Eissa; AL-HUSAIN, Muneera et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 330-336, issn 0002-9297, 7 p.Article

Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP TranscriptsCAMACHO-VANEGAS, Olga; CATALINA CAMACHO, Sandra; KIMONIS, Virginia et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 614-627, issn 0002-9297, 14 p.Article