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Mark J Daly

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Articles 497
Citations 130451
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Recent Articles
1.
Humeidi R, Oshiro-Rapley N, Gu X, An J, Ananthakrishnan A, Creasey E, et al.
J Am Chem Soc . 2025 Mar; PMID: 40067145
Colonic mucus forms a first line of defense against bacterial invasion while providing nutrition to support coinhabiting microbes in the gut. Mucus is composed of polymeric networks of mucin proteins,...
2.
Davis S, Liu A, Teerlink C, Lapato D, Gorman B, Genovese G, et al.
medRxiv . 2025 Feb; PMID: 39974076
Sex chromosome trisomies (SCT) are the most common whole chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of...
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.
Yu M, Zhang Q, Yuan K, Sazonovs A, Stevens C, Fachal L, et al.
medRxiv . 2024 Dec; PMID: 39677473
Genetic mutations that yield defective cystic fibrosis transmembrane regulator () protein cause cystic fibrosis, a life-limiting autosomal recessive Mendelian disorder. A protective role of loss-of-function mutations in inflammatory bowel disease...
5.
Usoltsev D, Njauw C, Ji Z, Kumar R, Sergushichev A, Zhang S, et al.
J Invest Dermatol . 2024 Dec; PMID: 39675662
UVR is known to be the most important environmental carcinogen for cutaneous melanoma. Whereas genomic analyses of melanoma tumors implicate a high rate of UV damage, the experimental induction and...
6.
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.
7.
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...
8.
Partanen J, Happola P, Kampe A, Ahola-Olli A, Hellsten A, Rask S, et al.
Am J Psychiatry . 2024 Sep; 181(10):879-892. PMID: 39262212
Objective: The authors used longitudinal biobank data with up to 25 years of follow-up on over 2,600 clozapine users to derive reliable estimates of the real-world burden of clozapine adverse...
9.
Yuan K, Longchamps R, Pardinas A, Yu M, Chen T, Lin S, et al.
Nat Genet . 2024 Aug; 56(9):1841-1850. PMID: 39187616
Genome-wide association studies (GWAS) of human complex traits or diseases often implicate genetic loci that span hundreds or thousands of genetic variants, many of which have similar statistical significance. While...
10.
Chen C, Chen T, Feng Y, Yu M, Lin S, Longchamps R, et al.
Cell Genom . 2024 Aug; 4(9):100640. PMID: 39147635
No abstract available.