Publications by authors named "Marsha Wheeler"

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Matthew T Wheeler

Nature· November 2025

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Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding.
Rachel K Friedman, Adam S Heath, Jennifer E Huffman, James T Baker, Natalie R Hasbani, Marsha M Wheeler

J Thromb Haemost· August 2025

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Matthew T Wheeler

ArXiv· December 2024

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Endothelial Dysfunction Biomarkers and CKD Incidence in the REGARDS Cohort.
Samuel A P Short, Katherine Wilkinson, D Leann Long, Deidra C Crews, Orlando M Gutierrez, Marsha Wheeler

Kidney Int Rep· July 2024

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Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Eric Venner, Karynne Patterson, Divya Kalra, Marsha M Wheeler, Yi-Ju Chen

Commun Biol· June 2024

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Frequency of pharmacogenomic variation and medication exposures among All of Us Participants.
Andrew Haddad, Aparna Radhakrishnan, Sean McGee, Joshua D Smith, Jason H Karnes, Marsha M Wheeler

medRxiv· June 2024

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A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
Paul S de Vries, Paula Reventun, Michael R Brown, Adam S Heath, Jennifer E Huffman, Marsha M Wheeler

Blood· May 2024

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Marsha M Wheeler

Cell Death Dis· May 2024

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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Eric Venner, Karynne Patterson, Divya Kalra, Marsha M Wheeler, Yi-Ju Chen

Commun Biol· February 2024

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variants in in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Elizabeth A Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Marsha Wheeler

HGG Adv· July 2023

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An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Dong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C Cecchi, Isabella C Marin, Marsha M Wheeler

Clin Genet· June 2023

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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Joshua S Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Marsha M Wheeler

Nature· April 2023

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The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Joshua S Weinstock, Cecelia A Laurie, Jai G Broome, Kent D Taylor, Xiuqing Guo, Marsha M Wheeler

Sci Adv· April 2023

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Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.
Marsha M Wheeler, Adrienne M Stilp, Shuquan Rao, Bjarni V Halldórsson, Doruk Beyter

Nat Commun· December 2022

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TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
Le Huang, Jonathan D Rosen, Quan Sun, Jiawen Chen, Marsha M Wheeler

Am J Hum Genet· June 2022

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Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai Broome, Marsha Wheeler

Hum Mol Genet· February 2022

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Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Margaret A Taub, Matthew P Conomos, Rebecca Keener, Kruthika R Iyer, Joshua S Weinstock, Marsha M Wheeler

Cell Genom· January 2022

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Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
Anna V Mikhaylova, Caitlin P McHugh, Linda M Polfus, Laura M Raffield, Meher Preethi Boorgula, Marsha Wheeler

Am J Hum Genet· October 2021

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Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
Yao Hu, Adrienne M Stilp, Caitlin P McHugh, Shuquan Rao, Deepti Jain, Marsha Wheeler

Am J Hum Genet· June 2021

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Germline SAMD9L truncation variants trigger global translational repression.
Eric J Allenspach, Frank Soveg, Laura S Finn, Lomon So, Jacquelyn A Gorman, Marsha M Wheeler

J Exp Med· May 2021

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Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
Yao Hu, Adrienne M Stilp, Caitlin P McHugh, Shuquan Rao, Deepti Jain, Marsha Wheeler

Am J Hum Genet· May 2021

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Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Alexander G Bick, Joshua S Weinstock, Satish K Nandakumar, Charles P Fulco, Erik L Bao, Marsha M Wheeler

Nature· March 2021

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Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
Carla L Dinardo, Theo G M Oliveira, Shannon Kelly, Allison Ashley-Koch, Marilyn Telen, Marsha M Wheeler

Transfusion· February 2021

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Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Alexander G Bick, Joshua S Weinstock, Satish K Nandakumar, Charles P Fulco, Erik L Bao, Marsha M Wheeler

Nature· October 2020

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Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.
Laura M Raffield, Ake T Lu, Mindy D Szeto, Amarise Little, Kelsey E Grinde, Marsha M Wheeler

J Thromb Haemost· June 2020

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