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J. Roach · SciRah

Researcher profile · Semantic Scholar

J. Roach

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J. Roach — researcher profile on SciRah

h-index: 39
Works: 88
Citations: 9,128

Most-cited papers

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
S. Aparício, J. Chapman, E. Stupka, N. Putnam +37 more
2002Science1,606 citations
Semantic Scholar
The evolution of vertebrate Toll-like receptors.
J. Roach, Gwênlyn Glusman, L. Rowen, Amardeep Kaur +4 more
2005Proceedings of the National Academy of Sciences of the United States of America1,204 citations Open access
Semantic Scholar
Supporting Online Material Materials and Methods Som Text Figs. S1 to S9 Tables S1 to S17 References Dataset S1 Analysis of Genetic Inheritance in a Family Quartet by Whole-genome Sequencing
N. L. Craig, R. Craigie, M. Gellert, A. Lambowitz +16 more
1,061 citations
Semantic Scholar
High Functional Diversity in Mycobacterium tuberculosis Driven by Genetic Drift and Human Demography
R. Hershberg, M. Lipatov, P. Small, H. Sheffer +7 more
2008PLoS Biology622 citations Open access
Semantic Scholar
Parent-of-origin-specific signatures of de novo mutations
J. Goldmann, Wendy S. W. Wong, M. Pinelli, T. Farrah +11 more
2016Nature Genetics308 citations
Semantic Scholar
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
Endotoxin recognition: In fish or not in fish?
Dimitar B. Iliev, J. Roach, S. Mackenzie, J. Planas +1 more
2005FEBS Letters223 citations
Semantic Scholar
TFCat: the curated catalog of mouse and human transcription factors
Debra L. Fulton, Saravanan Sundararajan, Gwenael Badis, T. Hughes +3 more
2009Genome Biology210 citations Open access
Semantic Scholar
Kaviar: an accessible system for testing SNV novelty
Gwênlyn Glusman, Juan Caballero, Denise E. Mauldin, L. Hood +1 more
2011Bioinform.205 citations Open access
Semantic Scholar
Uncovering a Macrophage Transcriptional Program by Integrating Evidence from Motif Scanning and Expression Dynamics
S. Ramsey, Sandy L. Klemm, Daniel E. Zak, Kathleen A. Kennedy +13 more
2008PLoS Comput. Biol.201 citations Open access
Semantic Scholar
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Julian Schubert, A. Siekierska, M. Langlois, P. May +43 more
2014Nature Genetics193 citations
Semantic Scholar
Conservation of Toll-Like Receptor Signaling Pathways in Teleost Fish.
M. Purcell, Kelly D. Smith, A. Aderem, L. Hood +2 more
2006Comparative Biochemistry and Physiology - Part D:Genomics and Proteomics189 citations Open access
Semantic Scholar
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Anna-Barbara Stittrich, A. Lehman, D. Bodian, J. Ashworth +15 more
2014American Journal of Human Genetics184 citations Open access
Semantic Scholar
Comparative genomics of the human and mouse T cell receptor loci.
Gwênlyn Glusman, L. Rowen, I. Lee, C. Boysen +5 more
2001Immunity182 citations Open access
Semantic Scholar
Rare variants in neuronal excitability genes influence risk for bipolar disorder
S. Ament, S. Szelinger, Gwênlyn Glusman, J. Ashworth +20 more
2015Proceedings of the National Academy of Sciences of the United States of America173 citations Open access
Semantic Scholar
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51
Najim Ameziane, P. May, A. Haitjema, H. J. van de Vrugt +25 more
2015Nature Communications152 citations Open access
Semantic Scholar
Pairwise end sequencing: a unified approach to genomic mapping and sequencing.
J. Roach, C. Boysen, Kai Wang, L. Hood
1995Genomics129 citations
Semantic Scholar
Reinfection with SARS-CoV-2 and Failure of Humoral Immunity: a case report.
Jason D. Goldman, Kai Wang, K. Röltgen, Sandra C. A. Nielsen +26 more
2020medRxiv110 citations Open access
Semantic Scholar
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hao Hu, J. Roach, H. Coon, S. Guthery +21 more
2014Nature Biotechnology104 citations Open access
Semantic Scholar
Evolutionary history of Tibetans inferred from whole-genome sequencing
Hao Hu, N. Petousi, Gwênlyn Glusman, Yao Yu +16 more
2017PLoS Genetics98 citations Open access
Semantic Scholar
The Molecular Evolution of the Vertebrate Trypsinogens
J. Roach, Kai Wang, L. Gan, L. Hood
1997Journal of Molecular Evolution96 citations
Semantic Scholar
Human, canine and murine BRCA1 genes: sequence comparison among species.
C. Szabo, Lori A. Wagner, Leigh V. Francisco, J. Roach +3 more
1996Human Molecular Genetics93 citations
Semantic Scholar
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
J. Meester, L. Southgate, Anna-Barbara Stittrich, H. Venselaar +20 more
2015American Journal of Human Genetics92 citations Open access
Semantic Scholar
Relationship Estimation from Whole-Genome Sequence Data
Hong Li, Gwênlyn Glusman, Hao Hu, Shankaracharya +9 more
2014PLoS Genetics79 citations Open access
Semantic Scholar
Transcription factor expression in lipopolysaccharide-activated peripheral-blood-derived mononuclear cells
J. Roach, Kelly D. Smith, Katie L Strobe, Stephanie M. Nissen +7 more
2007Proceedings of the National Academy of Sciences of the United States of America79 citations Open access
Semantic Scholar
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
L. Viollet, Gwênlyn Glusman, Kelley J. Murphy, T. Newcomb +37 more
2015PLoS ONE77 citations Open access
Semantic Scholar
Whole-genome haplotyping approaches and genomic medicine
Gustavo Glusman, H. Cox, J. Roach
2014Genome Medicine75 citations Open access
Semantic Scholar
Application of affymetrix array and massively parallel signature sequencing for identification of genes involved in prostate cancer progression
A. Oudes, J. Roach, Laura S Walashek, L. Eichner +3 more
2005BMC Cancer75 citations Open access
Semantic Scholar
Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.
J. Roach, K. Deutsch, Sarah Li, A. F. Siegel +7 more
2006American Journal of Human Genetics72 citations Open access
Semantic Scholar
Genomic and molecular characterization of preterm birth
T. Knijnenburg, J. Vockley, N. Chambwe, D. Gibbs +27 more
2019Proceedings of the National Academy of Sciences of the United States of America68 citations Open access
Semantic Scholar
Whole-Genome Sequencing of the World’s Oldest People
H. Gierman, Kristen Fortney, J. Roach, Natalie Coles +7 more
2014PLoS ONE64 citations Open access
Semantic Scholar
Chromosomal haplotypes by genetic phasing of human families.
J. Roach, Gwênlyn Glusman, R. Hubley, Stephen Z. Montsaroff +8 more
2011American Journal of Human Genetics60 citations Open access
Semantic Scholar
RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicine
E. Wood, Amy K. Glen, Lindsey G. Kvarfordt, Finn Womack +13 more
2021bioRxiv58 citations Open access
Semantic Scholar
Statistical analysis of MPSS measurements: application to the study of LPS-activated macrophage gene expression.
G. Stolovitzky, A. Kundaje, G. Held, K. Duggar +6 more
2005Proceedings of the National Academy of Sciences of the United States of America54 citations Open access
Semantic Scholar
The Innate Immune Database (IIDB)
M. Korb, A. G. Rust, V. Thorsson, C. Battail +12 more
2008BMC Immunology47 citations Open access
Semantic Scholar
A Third Approach to Gene Prediction Suggests Thousands of Additional Human Transcribed Regions
Gwênlyn Glusman, S. Qin, M. El-Gewely, A. F. Siegel +3 more
2006PLoS Comput. Biol.47 citations Open access
Semantic Scholar
Population-specific genetic modification of Huntington's disease in Venezuela
M. Chao, Kyung-Hee Kim, Jun-Wan Shin, Diane E. Lucente +13 more
2018PLoS Genetics43 citations Open access
Semantic Scholar
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
Yu-Qing He, K. Zeng, Xi-Bao Zhang, Qiaolin Chen +15 more
2015Journal of Investigative Dermatology41 citations Open access
Semantic Scholar
Diffuse Angiopathy in Adams-Oliver syndrome Associated with Truncating DOCK6 Mutations
A. Lehman, Anna-Barbara Stittrich, Gwênlyn Glusman, Zheyuan Zong +6 more
2014American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
Analysis of sequence-tagged-connector strategies for DNA sequencing.
A. F. Siegel, B. Trask, J. Roach, G. Mahairas +2 more
1999Genome Research29 citations Open access
Semantic Scholar
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
Jong-Min Lee, Kyung-Hee Kim, Aram Shin, M. Chao +15 more
2015American Journal of Human Genetics25 citations Open access
Semantic Scholar
Genomic Analysis of the Olfactory Receptor Region of the Mouse and Human T-Cell Receptor α/δ Loci
Robert P. Lane, J. Roach, Inyoul Y. Lee, C. Boysen +3 more
200224 citations Open access
Semantic Scholar
Identification of copy number variants in whole-genome data using Reference Coverage Profiles
Gwênlyn Glusman, Alissa L. Severson, V. Dhankani, Max Robinson +11 more
2015Frontiers in Genetics23 citations Open access
Semantic Scholar
Modeling the feasibility of whole genome shotgun sequencing using a pairwise end strategy.
Andrew F. Siegel, G. van den Engh, Leroy E. Hood, Barbara J. Trask +1 more
2000Genomics23 citations
Semantic Scholar
Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals
Anna-Barbara Stittrich, J. Ashworth, Mude Shi, Max Robinson +14 more
2016Human Genome Variation21 citations Open access
Semantic Scholar
Accurate and Robust Prediction of Genetic Relationship from Whole-Genome Sequences
Hong Li, Gwênlyn Glusman, C. Huff, Juan Caballero +1 more
2014PLoS ONE21 citations Open access
Semantic Scholar
Gaps in the Human Genome Project
J. Roach, A. F. Siegel, G. van den Engh, B. Trask +1 more
1999Nature21 citations
Semantic Scholar
Random subcloning.
J. Roach
1995Genome Research21 citations Open access
Semantic Scholar
A population-specific reference panel empowers genetic studies of Anabaptist populations
L. Hou, Rachel L. Kember, J. Roach, J. O'Connell +8 more
2017Scientific Reports18 citations Open access
Semantic Scholar
A systems‐biology clinical trial of a personalized multimodal lifestyle intervention for early Alzheimer's disease
S. C. McEwen, David A. Merrill, Jennifer E. Bramen, V. Porter +14 more
2021Alzheimer's & Dementia17 citations Open access
Semantic Scholar

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