Personal information

No personal information available

Activities

Works (6)

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

2025-02-12 | Preprint
Contributors: David Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan et al.
Source: check_circle
Crossref

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

2024-09-28 | Preprint
Contributors: David Cheerie; Margaret Meserve; Danique Beijer; Charu Kaiwar; Logan Newton; Ana Lisa Taylor Tavares; Aubrie Soucy Verran; Emma Sherrill; Stefanie Leonard; Stephan J. Sanders et al.
Source: check_circle
Crossref

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

Human Genetics and Genomics Advances
2024-07 | Journal article
Contributors: Rachel Y. Oh; Ali AlMail; David Cheerie; George Guirguis; Huayun Hou; Kyoko E. Yuki; Bushra Haque; Bhooma Thiruvahindrapuram; Christian R. Marshall; Roberto Mendoza-Londono et al.
Source: check_circle
Crossref

Leveraging cancer mutation data to predict the pathogenicity of germline missense variants

2024-03-13 | Preprint
Contributors: Bushra Haque; David Cheerie; Amy Pan; Meredith Curtis; Thomas Nalpathamkalam; Jimmy Nguyen; Celine Salhab; Bhooma Thiruvahindrapura; Jade Zhang; Madeline Couse et al.
Source: check_circle
Crossref

Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue

European Journal of Human Genetics
2024-02 | Journal article
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Contributors: Bushra Haque; David Cheerie; Saba Birkadze; Alice Linyan Xu; Thomas Nalpathamkalam; Bhooma Thiruv; Susan Walker; Gregory Costain
Source: Self-asserted source
David Cheerie

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional andin silicomethods

2023-07-06 | Preprint
Contributors: Rachel Y. Oh; Ali AlMail; David Cheerie; George Guirguis; Huayun Hou; Kyoko E. Yuki; Bushra Haque; Bhooma Thiruvahindrapuram; Christian R. Marshall; Roberto Mendoza-Londono et al.
Source: check_circle
Crossref