Michael E Talkowski
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Explore the profile of Michael E Talkowski including associated specialties, affiliations and a list of published articles.
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162
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13913
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Recent Articles
1.
Rohm D, Black J, McCutcheon S, Barrera A, Berry S, Morone D, et al.
Cell Genom
. 2025 Feb;
5(2):100770.
PMID: 39947136
Epigenome editing with DNA-targeting technologies such as CRISPR-dCas9 can be used to dissect gene regulatory mechanisms and potentially treat associated disorders. For example, Prader-Willi syndrome (PWS) results from loss of...
2.
Collins R, Talkowski M
Nat Rev Genet
. 2025 Jan;
PMID: 39838028
The biomedical community is increasingly invested in capturing all genetic variants across human genomes, interpreting their functional consequences and translating these findings to the clinic. A crucial component of this...
3.
Avila M, Jung S, Satterstrom F, Fu J, Levy T, Sloofman L, et al.
medRxiv
. 2025 Jan;
PMID: 39830258
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental...
4.
Dawood M, Heavner B, Wheeler M, Ungar R, LoTempio J, Wiel L, et al.
ArXiv
. 2025 Jan;
PMID: 39764392
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing,...
5.
Gillani R, Collins R, Crowdis J, Garza A, Jones J, Walker M, et al.
Science
. 2025 Jan;
387(6729):eadq0071.
PMID: 39745975
Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using germline...
6.
Lian Y, Kotobelli K, Hall S, Talkowski M, ODonnell-Luria A, Vallabh S, et al.
medRxiv
. 2024 Dec;
PMID: 39711705
Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease in which many patients exhibit a family history of dementia. Rare protein-coding variants in , which are causal...
7.
Li C, Bonder M, Syed S, Jensen M, Gerstein M, Zody M, et al.
Genome Res
. 2024 Dec;
34(12):2304-2318.
PMID: 39638559
The human genome is packaged within a three-dimensional (3D) nucleus and organized into structural units known as compartments, topologically associating domains (TADs), and loops. TAD boundaries, separating adjacent TADs, have...
8.
Reeve M, Loomis S, Nissila E, Rausch T, Zheng Z, Briotta Parolo P, et al.
medRxiv
. 2024 Nov;
PMID: 39606340
Age-related macular degeneration (AMD) is a prevalent cause of vision loss in the elderly with limited therapeutic options. A single chromosomal region around the complement factor H gene () is...
9.
Mostovoy Y, Boone P, Huang Y, Garimella K, Tan K, Russell B, et al.
Am J Hum Genet
. 2024 Nov;
111(12):2693-2706.
PMID: 39520989
Delineation of structural variants (SVs) at sequence resolution in highly repetitive genomic regions has long been intractable. The sequence properties, origins, and functional effects of classes of genomic rearrangements such...
10.
Lee A, Ayers L, Kosicki M, Chan W, Fozo L, Pratt B, et al.
Nat Commun
. 2024 Sep;
15(1):8268.
PMID: 39333082
Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene...