Steven A McCarroll
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Explore the profile of Steven A McCarroll including associated specialties, affiliations and a list of published articles.
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175
Citations
46530
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Recent Articles
1.
Bunting E, Donaldson J, Cumming S, Olive J, Broom E, Miclaus M, et al.
Sci Transl Med
. 2025 Feb;
17(785):eadn4600.
PMID: 39937881
Expanded CAG alleles in the huntingtin () gene that cause the neurodegenerative disorder Huntington's disease (HD) are genetically unstable and continue to expand somatically throughout life, driving HD onset and...
2.
Handsaker R, Kashin S, Reed N, Tan S, Lee W, McDonald T, et al.
Cell
. 2025 Jan;
188(3):623-639.e19.
PMID: 39824182
In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG) in the huntingtin (HTT) gene leads to neurodegeneration...
3.
Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants
Hujoel M, Handsaker R, Kamitaki N, Mukamel R, Rubinacci S, Palamara P, et al.
bioRxiv
. 2024 Dec;
PMID: 39651202
Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also...
4.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat S, Kentistou K, et al.
Nature
. 2024 Dec;
636(8043):E7.
PMID: 39627447
No abstract available.
5.
Hong I, Kim J, Hainmueller T, Kim D, Keijser J, Johnson R, et al.
Nature
. 2024 Oct;
635(8038):398-405.
PMID: 39358515
The brain helps us survive by forming internal representations of the external world. Excitatory cortical neurons are often precisely tuned to specific external stimuli. However, inhibitory neurons, such as parvalbumin-positive...
6.
Kamitaki N, Hujoel M, Mukamel R, Gebara E, McCarroll S, Loh P
Nat Genet
. 2024 Jul;
56(8):1583-1591.
PMID: 39048794
Retrotransposons comprise about 45% of the human genome, but their contributions to human trait variation and evolution are only beginning to be explored. Here, we find that a sequence of...
7.
Nadig A, Replogle J, Pogson A, McCarroll S, Weissman J, Robinson E, et al.
bioRxiv
. 2024 Jul;
PMID: 39005298
Single cell CRISPR screens such as Perturb-seq enable transcriptomic profiling of genetic perturbations at scale. However, the data produced by these screens are often noisy due to cost and technical...
8.
Yang S, Datta D, Krienen F, Ling E, Woo E, May A, et al.
bioRxiv
. 2024 Jun;
PMID: 38915595
Cognitive deficits from dorsolateral prefrontal cortex (dlPFC) dysfunction are common in neuroinflammatory disorders, including long-COVID, schizophrenia and Alzheimer's disease, and have been correlated with kynurenine inflammatory signaling. Kynurenine is further...
9.
Limone F, Mordes D, Couto A, Joseph B, Mitchell J, Therrien M, et al.
Nat Aging
. 2024 Jun;
4(7):984-997.
PMID: 38907103
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive loss of motor function linked to degenerating extratelencephalic neurons/Betz cells (ETNs). The reasons why these neurons are selectively...
10.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat S, Kentistou K, et al.
Nature
. 2024 Jun;
631(8019):134-141.
PMID: 38867047
Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals, but little is known about its genetic determinants or phenotypic consequences....