Jeremy Leipzig
Overview
Explore the profile of Jeremy Leipzig including associated specialties, affiliations and a list of published articles.
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30
Citations
2765
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0
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Recent Articles
1.
Kingsmore S, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, et al.
Am J Hum Genet
. 2024 Dec;
111(12):2643-2667.
PMID: 39642868
Large prospective clinical trials are underway or planned that examine the clinical utility and cost effectiveness of genome-based newborn screening (gNBS). One gNBS platform, BeginNGS, currently screens 53,575 variants for...
2.
Kingsmore S, Wright M, Smith L, Liang Y, Mowrey W, Protopsaltis L, et al.
Am J Hum Genet
. 2024 Dec;
111(12):2618-2642.
PMID: 39642867
Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified...
3.
Leipzig J, Nust D, Hoyt C, Ram K, Greenberg J
Patterns (N Y)
. 2021 Sep;
2(9):100322.
PMID: 34553169
Reproducible computational research (RCR) is the keystone of the scientific method for analyses, packaging the transformation of raw data to published results. In addition to its role in research integrity,...
4.
Raman P, Zimmerman S, Rathi K, de Torrente L, Sarmady M, Wu C, et al.
Cancer Genet
. 2019 Jul;
235-236:1-12.
PMID: 31296308
Identifying genetic biomarkers of patient survival remains a major goal of large-scale cancer profiling studies. Using gene expression data to predict the outcome of a patient's tumor makes biomarker discovery...
5.
McManus M, Picard M, Chen H, de Haas H, Potluri P, Leipzig J, et al.
Cell Metab
. 2018 Sep;
29(1):78-90.e5.
PMID: 30174309
Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies...
6.
Sonney S, Leipzig J, Lott M, Zhang S, Procaccio V, Wallace D, et al.
PLoS Comput Biol
. 2017 Dec;
13(12):e1005867.
PMID: 29227991
Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial DNA analysis. Determining whether these variants are pathogenic is critical, but confirmation of the effect of a...
7.
Chalkia D, Singh L, Leipzig J, Lvova M, Derbeneva O, Lakatos A, et al.
JAMA Psychiatry
. 2017 Aug;
74(11):1161-1168.
PMID: 28832883
Importance: Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic and biochemical studies have reported defects in mitochondrial oxidative...
8.
Morrow R, Picard M, Derbeneva O, Leipzig J, McManus M, Gouspillou G, et al.
Proc Natl Acad Sci U S A
. 2017 Feb;
114(10):2705-2710.
PMID: 28223503
Diabetes is associated with impaired glucose metabolism in the presence of excess insulin. Glucose and fatty acids provide reducing equivalents to mitochondria to generate energy, and studies have reported mitochondrial...
9.
Leipzig J
Brief Bioinform
. 2016 Mar;
18(3):530-536.
PMID: 27013646
High-throughput bioinformatic analyses increasingly rely on pipeline frameworks to process sequence and metadata. Modern implementations of these frameworks differ on three key dimensions: using an implicit or explicit syntax, using...
10.
Shen L, Diroma M, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott M, et al.
Hum Mutat
. 2016 Feb;
37(6):540-548.
PMID: 26919060
MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations...