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- Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.. 104:229-245. 2019
- FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.. 102:920-942. 2018
- Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression.. 101:157. 2017
- Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression.. 100:885-894. 2017
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.. 97:576-592. 2015
- Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.. 96:283-294. 2015
- Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.. 95:535-552. 2014
- Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.. 94:677-694. 2014
- Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.. 93:607-619. 2013
- ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.. 93:336-345. 2013
- Sequence kernel association tests for the combined effect of rare and common variants.. 92:841-853. 2013
- Response to Ott and Hoh.. 91:970-971. 2012
- Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.. 90:1002-1013. 2012
- Finding disease variants in Mendelian disorders by using sequence data: methods and applications.. 89:701-712. 2011
- Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.. 88:201-206. 2011
- A genome-wide study reveals copy number variants exclusive to childhood obesity cases.. 87:661-666. 2010
- Biochemical and genetic analysis of ANK in arthritis and bone disease.. 79:1017-1029. 2006
- Mutations in ANKH cause chondrocalcinosis.. 71:933-940. 2002
- Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.. 70:60-71. 2002
- A genomewide screen for autism susceptibility loci.. 69:327-340. 2001
- Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.. 68:1514-1520. 2001
- Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test.. 59:644-652. 1996
- A genome-wide linkage study in autism.
- Confirmatory evidence of linkage for autism to 7q based on combined analysis of three independent data sets.
- Large-scale candidate gene screening and association analysis in schizophrenia.
- Screening of candidate genes related to mylination for mutations associated with schizophrenia.
- Defining cis-acting regulatory elements by transgenic BAC scanning and comparative sequencing: examples from the GDF/BMP gene family.
- POSITIONAL CLONING OF THE SNELLS WALTZER GENE - A MOUSE MODEL FOR HUMAN AUTOSOMAL RECESSIVE DEAFNESS