A General Framework for Two-Stage Analysis of Genome-wide Association Studies and Its Application to Case-Control StudiesWASON, James M. S; DUDBRIDGE, Frank.American journal of human genetics. 2012, Vol 90, Num 5, pp 760-773, issn 0002-9297, 14 p.Article

A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cy2, Causes a Dominantly Inherited Autoinflammatory Disease with ImmunodeficiencyQING ZHOU; LEE, Geun-Shik; KUHNS, Douglas B et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 713-720, issn 0002-9297, 8 p.Article

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing ImpairmentSCHRAUWEN, Isabelle; HELFMANN, Sarah; DHEEDENE, Annelies et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 636-645, issn 0002-9297, 10 p.Article

A Mutation in the 5'-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic CallusSEMLER, Oliver; GARBES, Lutz; SCHOENAU, Eckhard et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 349-357, issn 0002-9297, 9 p.Article

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal FunctionHUSSAIN, Muhammad Sajid; BAIG, Shahid Mahmood; FROMMOLT, Peter et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 871-878, issn 0002-9297, 8 p.Article

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and ZebrafishASHARANI, P. V; KEUPP, Katharina; SONNTAG, Carmen et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 661-674, issn 0002-9297, 14 p.Article

Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility LociELLINGHAUS, David; ELLINGHAUS, Eva; WEST, Sarah L et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 636-647, issn 0002-9297, 12 p.Article

DNA Methylation Signatures in Development and Aging of the Human Prefrontal CortexNUMATA, Shusuke; TIANZHANG YE; HYPE, Thomas M et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 260-272, issn 0002-9297, 13 p.Article

De Novo Mutations in MLL Cause Wiedemann-Steiner SyndromeJONES, Wendy D; DAFOU, Dimitra; DESHPANDE, Charu et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 358-364, issn 0002-9297, 7 p.Article

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing DepthFROMER, Menachem; MORAN, Jennifer L; KIROV, George et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 597-607, issn 0002-9297, 11 p.Article

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcy Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth InfectionMACHADO, Lee R; HARDWICK, Robert J; BOWDREY, Jennifer et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 973-985, issn 0002-9297, 13 p.Article

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted SyndromeZHIMIAO LIN; QUAN CHEN; PENG ZHANG et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 558-564, issn 0002-9297, 7 p.Article

Fragile X and X-Linked Intellectual Disability: Four Decades of DiscoveryLUBS, Herbert A; STEVENSON, Roger E; SCHWARTZ, Charles E et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 579-590, issn 0002-9297, 12 p.Article

GPR1 79 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night BlindnessPEACHEY, Neal S; RAY, Thomas A; BOJANG, Pasano et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 331-339, issn 0002-9297, 9 p.Article

Genetic Variants at 6p21.1 and 7p15.3 Are Associated with Risk of Multiple Cancers in Han ChineseGUANGFU JIN; HONGXIA MA; JIAPING CHEN et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 928-934, issn 0002-9297, 7 p.Article

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion PositionPATERNOSTER, Lavinia; ZHUROV, Alexei I; RICHMOND, Stephen et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 478-485, issn 0002-9297, 8 p.Article

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1^―/― MiceWEBB, Bryn D; SHAABAN, Sherin; OYSTRECK, Darren T et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 171-179, issn 0002-9297, 9 p.Article

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg SyndromeCARMIGNAC, Virginie; THEVENON, Julien; RENARD, Marjolijn et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 950-957, issn 0002-9297, 8 p.Article

Linkage-Disequilibrium-Based Binning Affects the Interpretation of GWASsCHRISTOFOROU, Andrea; DONDRUP, Michael; JONASSEN, Inge et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 727-733, issn 0002-9297, 7 p.Article

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary DyskinesiaKOTT, Esther; DUQUESNOY, Philippe; RIVES, Nathalie et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 958-964, issn 0002-9297, 7 p.Article

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2CROMI, Hila; COHEN, Idan; BIRK, Ohad S et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 893-899, issn 0002-9297, 7 p.Article

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian PopulationSROUR, Myriam; SCHWARTZENTRUBER, Jeremy; BOYCOTT, Kym M et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 693-700, issn 0002-9297, 8 p.Article

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and CystsPOLVI, Anne; LINNANKIVI, Tarja; PIHKO, Helena et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 540-549, issn 0002-9297, 10 p.Article

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing LossBAUMANN, Matthias; GIUNTA, Cecilia; SCHREIBER, Gudrun et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 201-216, issn 0002-9297, 16 p.Article

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar SyndromeCAMPEAU, Philippe M; KIM, Jaeseung C; RHEAD, William J et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 282-289, issn 0002-9297, 8 p.Article