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
Finding the missing heritability of complex diseases
Teri A. Manolio,Francis S. Collins,Nancy J. Cox,David Goldstein,Lucia A. Hindorff,David J. Hunter,Mark I. McCarthy,Erin M. Ramos,Lon R. Cardon,Aravinda Chakravarti,Judy H. Cho,Alan E. Guttmacher,Augustine Kong,Leonid Kruglyak,Leonid Kruglyak,Elaine R. Mardis,Charles N. Rotimi,Montgomery Slatkin,David Valle,Alice S. Whittemore,Michael Boehnke,Andrew G. Clark,Evan E. Eichler,Greg Gibson,Jonathan L. Haines,Trudy F. C. Mackay,Steven A. McCarroll,Peter M. Visscher +27 more
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Journal ArticleDOI
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Thomas J. Kwiatkowski,D. A. Bosco,D. A. Bosco,A. L. LeClerc,A. L. LeClerc,Eric Tamrazian,Charles R. Vanderburg,Carsten Russ,Carsten Russ,A. Davis,James M. Gilchrist,E. J. Kasarskis,Theodore L. Munsat,Paul N. Valdmanis,Guy A. Rouleau,Betsy A. Hosler,Pietro Cortelli,P. J. De Jong,Yuko Yoshinaga,Jonathan L. Haines,Margaret A. Pericak-Vance,Jianhua Yan,Nicola Ticozzi,Nicola Ticozzi,Nicola Ticozzi,Teepu Siddique,Diane McKenna-Yasek,Peter C. Sapp,Peter C. Sapp,H R Horvitz,John Landers,John Landers,Robert H. Brown,Robert H. Brown +33 more
TL;DR: Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
Journal ArticleDOI
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han Xiang Deng,Wenjie Chen,Seong-Tshool Hong,Seong-Tshool Hong,Kym M. Boycott,George Gorrie,George Gorrie,Nailah Siddique,Yi Yang,Faisal Fecto,Yong-Yong Shi,Hong Zhai,Hujun Jiang,Hujun Jiang,Makito Hirano,Makito Hirano,Evadnie Rampersaud,Gerard H. Jansen,Sandra Donkervoort,Eileen H. Bigio,Benjamin Rix Brooks,Kaouther Ajroud,Robert L. Sufit,Jonathan L. Haines,Enrico Mugnaini,Margaret A. Pericak-Vance,Teepu Siddique +26 more
TL;DR: Findings link abnormalities in ubiquilin 2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention.
Journal ArticleDOI
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
Joshua C. Denny,Lisa Bastarache,Marylyn D. Ritchie,Robert J. Carroll,Raquel Zink,Jonathan D. Mosley,Julie R. Field,Jill M. Pulley,Andrea H. Ramirez,Erica Bowton,Melissa A. Basford,David Carrell,Peggy L. Peissig,Abel N. Kho,Jennifer A. Pacheco,Luke V. Rasmussen,David R. Crosslin,Paul K. Crane,Jyotishman Pathak,Suzette J. Bielinski,Sarah A. Pendergrass,Hua Xu,Lucia A. Hindorff,Rongling Li,Teri A. Manolio,Christopher G. Chute,Rex L. Chisholm,Eric B. Larson,Gail P. Jarvik,Murray H. Brilliant,Catherine A. McCarty,Iftikhar J. Kullo,Jonathan L. Haines,Dana C. Crawford,Daniel R. Masys,Dan M. Roden +35 more
TL;DR: The first large-scale application of the phenome-wide association study (PheWAS) paradigm within electronic medical records (EMRs) is reported, an unbiased approach to replication and discovery that interrogates relationships between targeted genotypes and multiple phenotypes in EMR-based cohorts.
Journal ArticleDOI
Interleukin 7 receptor α chain (IL7R) shows allelic and functional association with multiple sclerosis
Simon G. Gregory,Silke Schmidt,Puneet Seth,Jorge R. Oksenberg,John Hart,Angela Prokop,Stacy J. Caillier,Maria Ban,An Goris,Lisa F. Barcellos,Robin R. Lincoln,Jacob L. McCauley,Stephen Sawcer,D. A. S. Compston,Bénédicte Dubois,Stephen L. Hauser,Mariano A. Garcia-Blanco,Margaret A. Pericak-Vance,Jonathan L. Haines +18 more
TL;DR: Allelic association of a polymorphism in the gene encoding the interleukin 7 receptor α chain ( IL7R) is described as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets.