N. Chami

发表

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

Uwe Völker, Marie-Pierre Dubé, Alexander Teumer, 2014, Nature Genetics.

Genetic determinants of rare disorders and complex traits : insights into the genetics of dilated cardiomyopathy and blood cell traits

N. Chami, 2017 .

Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression

M. Hande, R. Bristow, S. E. Ghamrasni, 2014, Oncogene.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Y. J. Kim, Kristin A. Maloney, C. Gieger, 2020, Nature Communications.

The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations

M. Gladwin, P. O’Reilly, M. Fornage, 2022, Frontiers in Endocrinology.

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

Andrew D. Johnson, Joshua P. Lewis, Caitlin P. McHugh, 2020, medRxiv.

Clonal hematopoiesis is driven by aberrant activation of TCL1A

Andrew D. Johnson, Nicholette D. Palmer, Ansuman T. Satpathy, 2021, bioRxiv.

Genetic pleiotropy underpinning adiposity and inflammation in self-identified Hispanic/Latino populations

C. Sitlani, S. Buyske, K. North, 2022, BMC medical genomics.

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

He Gao, Tim Kacprowski, Andres Metspalu, 2016, American journal of human genetics.

A. J. Slater, Andrew D. Johnson, Dajiang J. Liu, 2016, American journal of human genetics.

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations

Michael H. Preuss, A. Gloyn, R. Loos, 2022, Diabetologia.

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Andrew D. Johnson, Ryan D. Hernandez, May E. Montasser, 2022, Nature Genetics.

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Caitlin P. McHugh, Bjarni V. Halldórsson, M. Fornage, 2022, Nature communications.

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

A. J. Slater, Andrew D. Johnson, John D. Eicher, 2016, American journal of human genetics.

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

Michael H. Preuss, R. Loos, N. Chami, 2020, PLoS medicine.

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Andrew D. Johnson, Caitlin P. McHugh, M. Fornage, 2021, American journal of human genetics.

Recovery of trait heritability from whole genome sequence data

Ryan D. Hernandez, M. Fornage, P. Visscher, 2019, bioRxiv.

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

Andrew D. Johnson, Caitlin P. McHugh, Bjarni V. Halldórsson, 2021, medRxiv.

Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes

G. Lettre, N. Chami, 2014, Genes.

Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

Michael H. Preuss, S. Mandrup, T. Kilpeläinen, 2021, Nature Metabolism.

Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative.

Andrew D. Johnson, Caitlin P. McHugh, M. Fornage, 2021, Human molecular genetics.

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative

Andrew D. Johnson, Caitlin P. McHugh, M. Fornage, 2021 .

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.

Andrew D. Johnson, Caitlin P. McHugh, M. Fornage, 2021, American journal of human genetics.

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

D. Labuda, G. Lettre, J. Tardif, 2014, The Canadian journal of cardiology.

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

Andrew D. Johnson, Nicholette D. Palmer, Ansuman T. Satpathy, 2023, Nature.

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

Andrew D. Johnson, Nicholette D. Palmer, M. Fornage, 2023, Science advances.

Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes

K. Pollard, Matthew Aguirre, J. Priest, 2023, Circulation. Genomic and precision medicine.

WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE

Benjamin D. Heavner, Nancy L. Heard Costa, Nicholette D. Palmer, 2023, medRxiv.

Determinants of mosaic chromosomal alteration fitness

P. Scheet, M. Taub, A. Stilp, 2023, medRxiv.

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

Nicholette D. Palmer, J. Murabito, S. Redline, 2023, bioRxiv.