PingHsun Hsieh
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Explore the profile of PingHsun Hsieh including associated specialties, affiliations and a list of published articles.
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23
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1349
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Recent Articles
1.
Dishuck P, Munson K, Lewis A, Dougherty M, Underwood J, Harvey W, et al.
bioRxiv
. 2025 Feb;
PMID: 39975192
The (nuclear pore interacting protein) gene family has expanded to high copy number in humans and African apes where it has been subject to an excess of amino acid replacement...
2.
Plender E, Prodanov T, Hsieh P, Nizamis E, Harvey W, Sulovari A, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1700-1716.
PMID: 38991590
The secreted mucins MUC5AC and MUC5B are large glycoproteins that play critical defensive roles in pathogen entrapment and mucociliary clearance. Their respective genes contain polymorphic and degenerate protein-coding variable number...
3.
Plender E, Prodanov T, Hsieh P, Nizamis E, Harvey W, Sulovari A, et al.
bioRxiv
. 2024 Apr;
PMID: 38562829
The secreted mucins MUC5AC and MUC5B play critical defensive roles in airway pathogen entrapment and mucociliary clearance by encoding large glycoproteins with variable number tandem repeats (VNTRs). These polymorphic and...
4.
LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification
Garza R, Atacho D, Adami A, Gerdes P, Vinod M, Hsieh P, et al.
Sci Adv
. 2023 Nov;
9(44):eadh9543.
PMID: 37910626
The genetic mechanisms underlying the expansion in size and complexity of the human brain remain poorly understood. Long interspersed nuclear element-1 (L1) retrotransposons are a source of divergent genetic information...
5.
Vollger M, Dishuck P, Harvey W, DeWitt W, Guitart X, Goldberg M, et al.
Nature
. 2023 May;
617(7960):325-334.
PMID: 37165237
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs...
6.
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Porubsky D, Hops W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, et al.
Cell
. 2022 May;
185(11):1986-2005.e26.
PMID: 35525246
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions <2...
7.
Johansson P, Brattas P, Douse C, Hsieh P, Adami A, Pontis J, et al.
Cell Stem Cell
. 2021 Oct;
29(1):52-69.e8.
PMID: 34624206
The human forebrain has expanded in size and complexity compared to chimpanzees despite limited changes in protein-coding genes, suggesting that gene expression regulation is an important driver of brain evolution....
8.
Hsieh P, Dang V, Vollger M, Mao Y, Huang T, Dishuck P, et al.
Nat Commun
. 2021 Aug;
12(1):5118.
PMID: 34433829
TRP channel-associated factor 1/2 (TCAF1/TCAF2) proteins antagonistically regulate the cold-sensor protein TRPM8 in multiple human tissues. Understanding their significance has been complicated given the locus spans a gap-ridden region with...
9.
Wilfert A, Turner T, Murali S, Hsieh P, Sulovari A, Wang T, et al.
Nat Genet
. 2021 Jul;
53(8):1125-1134.
PMID: 34312540
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we investigate another source of...
10.
Mao Y, Catacchio C, Hillier L, Porubsky D, Li R, Sulovari A, et al.
Nature
. 2021 May;
594(7861):77-81.
PMID: 33953399
The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation. Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without...