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Justin Cotney

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Articles 42
Citations 2425
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Recent Articles
1.
Khouri-Farah N, Winchester E, Schilder B, Robinson K, Curtis S, Skene N, et al.
bioRxiv . 2025 Jan; PMID: 39868299
Craniofacial development gives rise to the complex structures of the face and involves the interplay of diverse cell types. Despite its importance, our understanding of human-specific craniofacial developmental mechanisms and...
2.
Li Q, Faux P, Winchester E, Yang G, Chen Y, Ramirez L, et al.
Curr Biol . 2024 Dec; 35(1):131-144.e6. PMID: 39672157
Dental morphology varies greatly throughout evolution, including in the human lineage, but little is known about the biology of this variation. Here, we use multiomics analyses to examine the genetics...
3.
Khan N, Wilderman A, Kaiser J, Kamalakar A, Goudy S, Cotney J, et al.
Bone Res . 2024 Dec; 12(1):70. PMID: 39643619
Recent genome-wide association studies (GWAS) identified 518 significant loci associated with bone mineral density (BMD), including variants at the RUNX1 locus (rs13046645, rs2834676, and rs2834694). However, their regulatory impact on...
4.
Gilmore R, Liu Y, Stoddard C, Chung M, Carmichael G, Cotney J
Nucleic Acids Res . 2024 Nov; 52(22):13757-13774. PMID: 39575480
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized by neonatal hypotonia, followed by hyperphagia and obesity. Most PWS cases exhibit megabase-scale deletions of paternally imprinted 15q11-q13 locus. However, several...
5.
Gilmore R, Gorka D, Stoddard C, Sonawane P, Cotney J, Chamberlain S
PLoS One . 2024 Nov; 19(11):e0311565. PMID: 39485792
Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two distinct neurodevelopmental disorders, result from loss of expression from imprinted genes in the chromosome 15q11-13 locus most commonly caused by a megabase-scale...
6.
Alade A, Mossey P, Awotoye W, Busch T, Oladayo A, Aladenika E, et al.
Sci Rep . 2024 Jun; 14(1):14279. PMID: 38902479
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability...
7.
Alade A, Mossey P, Awotoye W, Busch T, Oladayo A, Aladenika E, et al.
Res Sq . 2024 Mar; PMID: 38464065
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability...
8.
Ghahremani S, Kanwal A, Pettinato A, Ladha F, Legere N, Thakar K, et al.
Circulation . 2024 Jan; 149(16):1285-1297. PMID: 38235591
Background: truncation variants (TTNtvs) are the most common genetic lesion identified in individuals with dilated cardiomyopathy, a disease with high morbidity and mortality rates. TTNtvs reduce normal TTN (titin) protein...
9.
Wilderman A, Dhaene E, Baetens M, Yankee T, Winchester E, Glidden N, et al.
Nat Commun . 2024 Jan; 15(1):136. PMID: 38167838
Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of coactivated...
10.
Gilmore R, Liu Y, Stoddard C, Chung M, Carmichael G, Cotney J
bioRxiv . 2023 Oct; PMID: 37873184
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized principally by initial symptoms of neonatal hypotonia and failure-to-thrive in infancy, followed by hyperphagia and obesity. It is well established that...