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N. Shah · SciRah

Researcher profile · Semantic Scholar

N. Shah

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N. Shah — researcher profile on SciRah

h-index: 20
Works: 41
Citations: 5,153

Most-cited papers

Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder
D. Pinto, A. Pagnamenta, L. Klei, R. Anney +173 more
2010Nature2,062 citations Open access
Semantic Scholar
A genome-wide scan for common alleles affecting risk for autism
R. Anney, L. Klei, D. Pinto, R. Regan +162 more
2010Human Molecular Genetics605 citations Open access
Semantic Scholar
Individual common variants exert weak effects on the risk for autism spectrum disorders
R. Anney, L. Klei, D. Pinto, J. Almeida +133 more
2012Human Molecular Genetics374 citations Open access
Semantic Scholar
Deep sequencing of 10,000 human genomes
A. Telenti, Levi Pierce, W. Biggs, J. di Iulio +15 more
2016Proceedings of the National Academy of Sciences of the United States of America325 citations Open access
Semantic Scholar
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
Elizabeth T. Cirulli, Lining Guo, Christine Leon Swisher, N. Shah +8 more
2019Cell Metabolism323 citations Open access
Semantic Scholar
Genome-wide identification of microRNAs regulating cholesterol and triglyceride homeostasis
Alexandre Wagschal, S. H. Najafi-Shoushtari, Li-Feng Wang, L. Goedeke +27 more
2015Nature Medicine260 citations Open access
Semantic Scholar
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
J. Casey, T. Magalhães, J. Conroy, R. Regan +122 more
2011Human Genetics203 citations Open access
Semantic Scholar
InnateDB: facilitating systems-level analyses of the mammalian innate immune response
D. Lynn, Geoffrey L. Winsor, C. Chan, N. Richard +19 more
2008Molecular Systems Biology153 citations Open access
Semantic Scholar
The human noncoding genome defined by genetic diversity
J. di Iulio, I. Bartha, E. Wong, Hung-Chun Yu +11 more
2018Nature Genetics143 citations Open access
Semantic Scholar
Abnormal B cell memory subsets dominate HIV-specific responses in infected individuals.
L. Kardava, S. Moir, N. Shah, Wei Wang +14 more
2014Journal of Clinical Investigation134 citations Open access
Semantic Scholar
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
Brad A. Perkins, C. Caskey, Pamila Brar, Eric Dec +23 more
2018Proceedings of the National Academy of Sciences of the United States of America95 citations Open access
Semantic Scholar
Identification of misclassified ClinVar variants using disease population prevalence
N. Shah, Ying-Chen Claire Hou, Hung-Chun Yu, R. Sainger +5 more
2016bioRxiv84 citations Open access
Semantic Scholar
Systematic Analysis of Cell-to-Cell Expression Variation of T Lymphocytes in a Human Cohort Identifies Aging and Genetic Associations
Yong Lu, A. Biancotto, Foo Cheung, E. Remmers +3 more
2016Immunity54 citations Open access
Semantic Scholar
Towards the identification of a genetic basis for Landau‐Kleffner syndrome
J. Conroy, P. McGettigan, D. McCreary, N. Shah +10 more
2014Epilepsia53 citations Open access
Semantic Scholar
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Ilan Shomorony, Elizabeth T. Cirulli, Lei Huang, Lori A. Napier +16 more
2020Genome Medicine50 citations Open access
Semantic Scholar
Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
N. Shah, Y. Hou, Hung-Chun Yu, R. Sainger +3 more
2018American Journal of Human Genetics45 citations Open access
Semantic Scholar
Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones
Isaac V. Cohen, Elizabeth T. Cirulli, Matthew W. Mitchell, Thomas J. Jönsson +6 more
2018EBioMedicine37 citations Open access
Semantic Scholar
A crowdsourcing approach for reusing and meta-analyzing gene expression data
N. Shah, Yong-Jian Guo, Katherine V. Wendelsdorf, Yong Lu +2 more
2016Nature Biotechnology32 citations Open access
Semantic Scholar
Applications of weighted association networks applied to compositional data in biology.
J. Espinoza, N. Shah, Suren Singh, K. Nelson +1 more
2020Environmental Microbiology25 citations Open access
Semantic Scholar
High-resolution Genome-wide Copy-number Analyses Identify Localized Copy-number Alterations in Ewing Sarcoma
M. Lynn, Yuexiang Wang, J. Slater, N. Shah +6 more
2013Diagnostic molecular pathology (Print)23 citations
Semantic Scholar
HGDP and HapMap Analysis by Ancestry Mapper Reveals Local and Global Population Relationships
T. Magalhães, J. Casey, J. Conroy, R. Regan +4 more
2012PLoS ONE17 citations Open access
Semantic Scholar
A Study of Alveolar Rhabdomyosarcoma Copy Number Alterations by Single Nucleotide Polymorphism Analysis
M. Lynn, N. Shah, J. Conroy, S. Ennis +3 more
2014Applied immunohistochemistry & molecular morphology (Print)14 citations
Semantic Scholar
Genome-wide epistatic expression quantitative trait loci discovery in four human tissues reveals the importance of local chromosomal interactions governing gene expression
Darren J. Fitzpatrick, Colm J. Ryan, N. Shah, Derek Greene +2 more
2015BMC Genomics12 citations Open access
Semantic Scholar
Proteomic basis of mortality resilience mediated by FOXO3 longevity genotype
T. Donlon, Brian J. Morris, Ran-Di Chen, E. Lim +5 more
2023GeroScience8 citations Open access
Semantic Scholar
The human functional genome defined by genetic diversity
J. di Iulio, I. Bartha, E. Wong, Hung-Chun Yu +11 more
2016bioRxiv6 citations Open access
Semantic Scholar
Multilamellar hyaluronic acid-b-poly(lactic acid) polymersomes for pathology-responsive MRI enhancement
Dorian Foster, N. Shah, Alaura S. Cakley, Ronald J. Beyers +1 more
2025Biomaterials Science4 citations Open access
Semantic Scholar
Building Genomic Analysis Pipelines in a Hackathon Setting
Ben Busby, A. Dillman, Claire L. Simpson, Ian M. Fingerman +20 more
20154 citations
Semantic Scholar
Profound perturbation of the human metabolome by obesity
Elizabeth T. Cirulli, Lining Guo, C. Swisher, N. Shah +8 more
2018bioRxiv3 citations Open access
Semantic Scholar
Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31-Xp22.12 deletion.
L. Baker, J. Conroy, V. Donoghue, M. Mullarkey +5 more
2011Clinical Dysmorphology3 citations
Semantic Scholar
Addition of Genetics to Quantitative MRI Facilitates Earlier Prediction of Dementia: A Non-invasive Alternative to Amyloid Measures
Natalie M. Schenker-Ahmed, Nafisa Bulsara, Lei Yang, Lei Huang +15 more
2019bioRxiv2 citations Open access
Semantic Scholar
Unsupervised integration of multimodal dataset identifies novel signatures of health and disease
Ilan Shomorony, Elizabeth T. Cirulli, Lei Huang, Lori A. Napier +14 more
2018bioRxiv2 citations Open access
Semantic Scholar
Response to Whiffin et al.
N. Shah, Ying-Chen Claire Hou, Hung-Chun Yu, R. Sainger +3 more
2019American Journal of Human Genetics1 citations Open access
Semantic Scholar
A Study of Alveolar Rhabdomyosarcoma Copy Number Alterations by Single Nucleotide Polymorphism Analysis.
M. Lynn, N. Shah, J. Conroy, S. Ennis +3 more
2014Diagnostic molecular pathology (Print)1 citations
Semantic Scholar
Posters
S. Igdari, Marie Catenacci, N. Shah, Ophélie +30 more
2022The Journal of frailty & aging0 citations Open access
Semantic Scholar
Precision Medicine Screening Using Whole Genome Sequencing and Advanced Imaging To Identify Disease Risk in Adults
Brad A. Perkins, C. Caskey, Pamila Brar, Eric Dec +24 more
2017bioRxiv0 citations Open access
Semantic Scholar
Building Genomic Analysis Pipelines in a Hackathon Setting with Bioinformatician Teams: DNA-seq, Epigenomics, Metagenomics and RNA-seq
Ben Busby, Allissa A. Dillman, Claire L. Simpson, Ian M. Fingerman +28 more
2015bioRxiv0 citations Open access
Semantic Scholar
16th Meeting of the Irish Society of Human Genetics, Friday 6th September 2013.
M. Dobson, JM Darlow, R. Darlay, H. Cordell +18 more
2013Ulster medical journal0 citations
Semantic Scholar
13th Meeting of the Irish Society of Human Genetics
F. Stewart, J. E. Wraith, K. Tylee, A. H. Cooper +163 more
2010Ulster medical journal0 citations
Semantic Scholar
12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009
Johanna Kelly, N. Coen, Lynn R. Barton, M. O'Dwyer +166 more
2010Ulster medical journal0 citations
Semantic Scholar
11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008
TM Murphy, A. Perry, L. O'Connor, M. Lawler +17 more
2009Ulster medical journal0 citations
Semantic Scholar
InnateDB & Cerebral: user‐friendly tools for the systems‐level analysis of innate immunity
J. Gardy, D. Lynn, Geoffrey L. Winsor, Aaron Barsky +16 more
20080 citations
Semantic Scholar

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