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Nathalie Chami · SciRah

Researcher profile · Semantic Scholar

Nathalie Chami

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Nathalie Chami — researcher profile on SciRah

h-index: 16
Works: 40
Citations: 1,559

Most-cited papers

Assessing the contribution of rare variants to complex trait heritability from whole genome sequence data
Pierrick Wainschtein, D. Jain, Zhili Zheng, L. Cupples +46 more
2022Nature Genetics279 citations Open access
Semantic Scholar
Recovery of trait heritability from whole genome sequence data
Pierrick Wainschtein, D. Jain, Zhili Zheng, L. Cupples +46 more
2019bioRxiv222 citations Open access
Semantic Scholar
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
P. Auer, A. Teumer, U. Schick, A. O'Shaughnessy +22 more
2014Nature Genetics139 citations Open access
Semantic Scholar
Aberrant activation of TCL1A promotes stem cell expansion in clonal hematopoiesis
J. Weinstock, J. Gopakumar, B. Burugula, M. Uddin +107 more
2023Nature106 citations Open access
Semantic Scholar
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities
L. O. Huang, A. Rauch, Eugenia Mazzaferro, Michael H. Preuss +12 more
2021Nature Metabolism105 citations
Semantic Scholar
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
J. Goodrich, M. Singer-Berk, R. Son, A. Sveden +126 more
2020Nature Communications95 citations Open access
Semantic Scholar
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.
J. Eicher, Nathalie Chami, T. Kacprowski, A. Nomura +109 more
2016American Journal of Human Genetics89 citations Open access
Semantic Scholar
The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population
Nathalie Chami, Michael H. Preuss, Ryan W. Walker, A. Moscati +1 more
2020PLoS Medicine79 citations Open access
Semantic Scholar
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Nathalie Chami, Ming-Huei Chen, A. J. Slater, J. Eicher +109 more
2016American Journal of Human Genetics77 citations Open access
Semantic Scholar
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.
Salman M. Tajuddin, U. Schick, J. Eicher, Nathalie Chami +93 more
2016American Journal of Human Genetics60 citations Open access
Semantic Scholar
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program
Yao Hu, A. Stilp, Caitlin P. McHugh, D. Jain +71 more
2020medRxiv32 citations Open access
Semantic Scholar
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
Yao Hu, A. Stilp, Caitlin P. McHugh, Shu-Quan Rao +75 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height
G. Hawkes, R. Beaumont, Zi-Lin Li, R. Mandla +53 more
2024Nature Communications26 citations Open access
Semantic Scholar
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
A. Mikhaylova, Caitlin P. McHugh, L. Polfus, L. Raffield +89 more
2021American Journal of Human Genetics26 citations Open access
Semantic Scholar
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes
Nathalie Chami, G. Lettre
2014Genes24 citations Open access
Semantic Scholar
Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities
Nathalie Chami, Zhe Wang, Victor Svenstrup, Virginia Diez Obrero +15 more
2025Nature Medicine23 citations Open access
Semantic Scholar
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations
Zhe Wang, Shing Choi, Nathalie Chami, E. Boerwinkle +37 more
2022Frontiers in Endocrinology17 citations Open access
Semantic Scholar
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
M. Wheeler, A. Stilp, Shu-Quan Rao, B. Halldórsson +55 more
2022Nature Communications15 citations Open access
Semantic Scholar
Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative.
Amarise Little, Yao Hu, Quan Sun, D. Jain +63 more
2021Human Molecular Genetics13 citations Open access
Semantic Scholar
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes
J. Weinstock, C. Laurie, J. Broome, K. Taylor +83 more
2023Science Advances12 citations Open access
Semantic Scholar
An Oligogenic Architecture of Rare Noncoding Variants Distinguishes Four Congenital Heart Disease Phenotypes
Meng-Yao Yu, Matthew Aguirre, Mei-Wen Jia, Ketrin Gjoni +24 more
2023Circulation Genomic and Precision Medicine11 citations Open access
Semantic Scholar
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Xi-Hao Li, Han Chen, M. Selvaraj, Eric Van Buren +438 more
2025Nature Computational Science8 citations Open access
Semantic Scholar
Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height
G. Hawkes, R. Beaumont, Zi-Lin Li, R. Mandla +51 more
2023bioRxiv8 citations Open access
Semantic Scholar
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations
Lauren A. Stalbow, Michael H. Preuss, R. A. Smit, Nathalie Chami +4 more
2022Diabetologia8 citations Open access
Semantic Scholar
Clonal hematopoiesis is driven by aberrant activation of TCL1A
J. Weinstock, J. Gopakumar, B. Burugula, M. Uddin +102 more
2021bioRxiv8 citations Open access
Semantic Scholar
Genome-wide association study provides novel insight into the genetic architecture of severe obesity
Mohanraj Krishnan, M. Anwar, A. Justice, G. Chittoor +62 more
2025medRxiv7 citations Open access
Semantic Scholar
Determinants of mosaic chromosomal alteration fitness
Y. Pershad, T. Mack, H. Poisner, Y. Jakubek +40 more
2024Nature Communications7 citations Open access
Semantic Scholar
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants
K. Iyer, S. Clarke, R. Guarischi-Sousa, Ketrin Gjoni +61 more
2025Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease6 citations Open access
Semantic Scholar
Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele
Xin-Ruo Zhang, J. Brody, M. Graff, H. Highland +122 more
2025Nature Communications5 citations Open access
Semantic Scholar
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Xi-Hao Li, Han Chen, M. Selvaraj, Eric Van Buren +64 more
2023bioRxiv5 citations Open access
Semantic Scholar
Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program
M. Wheeler, A. Stilp, Shu-Quan Rao, B. Halldórsson +55 more
2021medRxiv5 citations Open access
Semantic Scholar
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE
Xin-Ruo Zhang, J. Brody, M. Graff, H. Highland +118 more
2023medRxiv4 citations Open access
Semantic Scholar
Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities
Nathalie Chami, Zhe Wang, Victor Svenstrup, Virgina Diez-Obrero +15 more
2025medRxiv3 citations Open access
Semantic Scholar
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations
J. Weinstock, Sharjeel A. Chaudhry, Maria Ioannou, Maria Viskadourou +50 more
2025Nature Communications3 citations Open access
Semantic Scholar
Determinants of mosaic chromosomal alteration fitness
Y. Pershad, T. Mack, H. Poisner, Y. Jakubek +40 more
2023medRxiv3 citations Open access
Semantic Scholar
Genetic pleiotropy underpinning adiposity and inflammation in self-identified Hispanic/Latino populations
M. Anwar, Antoine R. Baldassari, Hannah G. Polikowsky, C. Sitlani +21 more
2022BMC Medical Genomics3 citations Open access
Semantic Scholar
Genetic pleiotropy underpinning adiposity and inflammation in self-identified Hispanic/Latino populations
M. Anwar, Antoine R. Baldassari, Hannah G. Polikowsky, C. Sitlani +21 more
2022BMC Medical Genomics3 citations Open access
Semantic Scholar
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration
D. Palmer, Barney Hill, S. Hodgson, Maarja Jõeloo +49 more
2026medRxiv1 citations Open access
Semantic Scholar
The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations
J. Weinstock, Sharjeel A. Chaudhry, Maria Ioannou, Maria Viskadourou +51 more
2024medRxiv1 citations Open access
Semantic Scholar
1273-P: The Interplay between Polygenic and Rare HNF1A Variant Risk in Type 2 Diabetes
Lauren A. Stalbow, Michael H. Preuss, Nathalie Chami, R. Smit +1 more
2022Diabetes0 citations
Semantic Scholar

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