Sam Sheppeard
Overview
Explore the profile of Sam Sheppeard including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
5
Citations
2
Followers
0
Related Specialty
Related Specialty
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Vollger M, Korlach J, Eldred K, Swanson E, Underwood J, Bohaczuk S, et al.
Nat Genet
. 2025 Jan;
57(2):469-479.
PMID: 39880924
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome,...
2.
Blue E, Huang S, Khan A, Golden-Grant K, Boyd B, Rosenthal E, et al.
Rare
. 2024 Oct;
2.
PMID: 39421685
Biallelic pathogenic variants in underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here,...
3.
Vollger M, Korlach J, Eldred K, Swanson E, Underwood J, Cheng Y, et al.
bioRxiv
. 2023 Oct;
PMID: 37808736
Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read...
4.
Stergachis A, Blue E, Gillentine M, Wang L, Schwarze U, Cortes A, et al.
Neurol Genet
. 2023 Aug;
9(5):e200090.
PMID: 37560121
Objectives: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing...
5.
Pujol-Gimenez J, Mirzaa G, Blue E, Albano G, Miller D, Allworth A, et al.
Ann Clin Transl Neurol
. 2023 May;
10(6):1046-1053.
PMID: 37194416
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus...
6.
Stergachis A, Blue E, Gillentine M, Wang L, Schwarze U, Cortes A, et al.
bioRxiv
. 2023 Feb;
PMID: 36798371
Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript...