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Robert E Handsaker

Explore the profile of Robert E Handsaker including associated specialties, affiliations and a list of published articles. Areas
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Articles 55
Citations 23553
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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.
Li R, Gagliano Taliun S, Liao K, Flickinger M, Sobell J, Genovese G, et al.
medRxiv . 2025 Jan; PMID: 39763555
In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD)...
4.
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...
5.
Hujoel M, Handsaker R, Sherman M, Kamitaki N, Barton A, Mukamel R, et al.
Nat Genet . 2024 Mar; 56(4):569-578. PMID: 38548989
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank...
6.
Ling E, Nemesh J, Goldman M, Kamitaki N, Reed N, Handsaker R, et al.
Nature . 2024 Mar; 627(8004):604-611. PMID: 38448582
Human brains vary across people and over time; such variation is not yet understood in cellular terms. Here we describe a relationship between people's cortical neurons and cortical astrocytes. We...
7.
Ling E, Nemesh J, Goldman M, Kamitaki N, Reed N, Handsaker R, et al.
bioRxiv . 2024 Jan; PMID: 38260461
Human brains vary across people and over time; such variation is not yet understood in cellular terms. Here we describe a striking relationship between people's cortical neurons and cortical astrocytes....
8.
Mukamel R, Handsaker R, Sherman M, Barton A, Hujoel M, McCarroll S, et al.
Cell . 2023 Aug; 186(17):3659-3673.e23. PMID: 37527660
Many regions in the human genome vary in length among individuals due to variable numbers of tandem repeats (VNTRs). To assess the phenotypic impact of VNTRs genome-wide, we applied a...
9.
Hujoel M, Handsaker R, Sherman M, Kamitaki N, Barton A, Mukamel R, et al.
bioRxiv . 2023 Jun; PMID: 37333244
Structural variants (SVs) comprise the largest genetic variants, altering from 50 base pairs to megabases of DNA. However, SVs have not been effectively ascertained in most genetic association studies, leaving...
10.
Genovese G, Mello C, Loh P, Handsaker R, Kashin S, Whelan C, et al.
Sci Rep . 2022 Jul; 12(1):12025. PMID: 35835769
Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal...