J
Jonathan L. Haines
Researcher at Case Western Reserve University
Publications - 463
Citations - 44478
Jonathan L. Haines is an academic researcher from Case Western Reserve University. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 100, co-authored 463 publications receiving 40225 citations. Previous affiliations of Jonathan L. Haines include John P. Hussman Institute for Human Genomics & Bascom Palmer Eye Institute.
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Journal ArticleDOI
A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda
George E. Tiller,Vickie L. Hannig,Damon Dozier,Laura Carrel,Karrie C. Trevarthen,William R. Wilcox,Stefan Mundlos,Jonathan L. Haines,Agi K. Gedeon,Jozef Gecz +9 more
TL;DR: Characterization of an exon-skipping mutation (IVS3+5G-->A at the intron 3 splice-donor site) in two unrelated families with SEDL suggests that SEDl mutations may perturb an intracellular pathway that is important for cartilage homeostasis.
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Dissecting the locus heterogeneity of autism: Significant linkage to chromosome 12q14
Deqiong Ma,Michael L. Cuccaro,James M. Jaworski,Carol Haynes,Dietrich A. Stephan,J. Parod,Ruth K. Abramson,Harry H. Wright,John R. Gilbert,Jonathan L. Haines,Margaret A. Pericak-Vance +10 more
TL;DR: A novel linkage peak on chromosome 12q further supports the hypothesis of substantial locus heterogeneity in autism, and was enhanced significantly in the families with only male affected, suggesting a significant gender-specific effect in the etiology of autism.
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A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
Pu Ting Xu,Yi-Ju Li,Xue Jun Qin,Charles C. Kroner,Anya Green-Odlum,Hong Xu,Tian Yuan Wang,Donald E. Schmechel,Christine M. Hulette,John F. Ervin,Michael A. Hauser,Jonathan L. Haines,Margaret A. Pericak-Vance,John R. Gilbert +13 more
TL;DR: In this paper, the effects of APOE alleles on gene expression in AD were analyzed using serial analysis of gene expression (SAGE) to identify new candidate genes conferring susceptibility to AD.
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Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes
Alison A. Motsinger,David Brassat,Stacy J. Caillier,Henry A. Erlich,Karen Walker,Lori Steiner,Lisa F. Barcellos,Margaret A. Pericak-Vance,Silke Schmidt,Simon G. Gregory,Stephen L. Hauser,Jonathan L. Haines,Jorge R. Oksenberg,Marylyn D. Ritchie +13 more
TL;DR: It is suggested that significant epistasis, or gene–gene interactions, may exist even in the absence of statistically significant individual main effects in multiple sclerosis.
Journal ArticleDOI
Genome‐Wide Association and Linkage Study in the Amish Detects a Novel Candidate Late‐Onset Alzheimer Disease Gene
Anna C. Cummings,Lan Jiang,Digna R. Velez Edwards,Jacob L. McCauley,Renee Laux,Lynne L. McFarland,Denise Fuzzell,Clare Knebusch,Laura Caywood,Lori Reinhart-Mercer,Laura D. Nations,John R. Gilbert,Ioanna Konidari,Michael G. Tramontana,Michael L. Cuccaro,William K. Scott,Margaret A. Pericak-Vance,Jonathan L. Haines +17 more
TL;DR: The results identify CTNNA2 as a novel candidate LOAD gene, and implicate three other regions of the genome as novel LOAD loci, underscore the utility of using family‐based linkage and association analyses in isolated populations to identify novel loci for traits with complex genetic architecture.