Publications by authors named "Justin Cotney"

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Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.
Sarah W Curtis, Laura E Cook, Kitt Paraiso, Axel Visel, Justin L Cotney

Birth Defects Res· July 2025

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Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.
Nagham Khouri-Farah, Emma Wentworth Winchester, Brian M Schilder, Kelsey Robinson, Sarah W Curtis, Justin Cotney

bioRxiv· February 2025

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PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.
Qing Li, Pierre Faux, Emma Wentworth Winchester, Guangrui Yang, Yingjie Chen, Justin Cotney

Curr Biol· January 2025

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Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.
Rachel B Gilmore, Yaling Liu, Christopher E Stoddard, Michael S Chung, Gordon G Carmichael, Justin Cotney

Nucleic Acids Res· December 2024

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Enhanced osteogenic potential of iPSC-derived mesenchymal progenitor cells following genome editing of GWAS variants in the RUNX1 gene.
Nazir M Khan, Andrea Wilderman, Jarred M Kaiser, Archana Kamalakar, Steven L Goudy, Justin Cotney

Bone Res· December 2024

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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
Rachel B Gilmore, Dea Gorka, Christopher E Stoddard, Pooja Sonawane, Justin Cotney

PLoS One· November 2024

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Ube3a unsilencer for the potential treatment of Angelman syndrome.
Hanna Vihma, Kelin Li, Anna Welton-Arndt, Audrey L Smith, Kiran R Bettadapur, Justin L Cotney

Nat Commun· July 2024

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Rare variants analyses suggest novel cleft genes in the African population.
Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola M Oladayo, Justin Cotney

Sci Rep· June 2024

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CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by Truncation Variants.
Shahnaz Ghahremani, Aditya Kanwal, Anthony Pettinato, Feria Ladha, Nicholas Legere, Justin Cotney

Circulation· April 2024

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Spatial Multiomics Reveal the Role of Wnt Modulator, Dkk2, in Palatogenesis.
Jeremie Oliver Piña, Resmi Raju, Daniela M Roth, Emma Wentworth Winchester, Cameron Padilla, Justin L Cotney

bioRxiv· February 2024

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Massively parallel disruption of enhancers active in human neural stem cells.
Evan Geller, Mark A Noble, Matheo Morales, Jake Gockley, Deena Emera, Justin L Cotney

Cell Rep· February 2024

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Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.
Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola Oladayo, Justin Cotney

Res Sq· February 2024

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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Andrea Wilderman, Eva D'haene, Machteld Baetens, Tara N Yankee, Emma Wentworth Winchester, Justin Cotney

Nat Commun· January 2024

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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinberg, Justin L Cotney

Hum Genet· October 2023

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Identifying key underlying regulatory networks and predicting targets of orphan C/D box snoRNAs in Prader-Willi syndrome.
Rachel B Gilmore, Yaling Liu, Christopher E Stoddard, Michael S Chung, Gordon G Carmichael, Justin Cotney

bioRxiv· October 2023

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Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.
Jeremie Oliver Piña, Resmi Raju, Daniela M Roth, Emma Wentworth Winchester, Parna Chattaraj, Justin L Cotney

Nat Commun· September 2023

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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Justin Cotney

Nat Commun· August 2023

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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
Rachel B Gilmore, Dea Gorka, Christopher E Stoddard, Justin L Cotney, Stormy J Chamberlain

bioRxiv· August 2023

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Rare genetic variants in modify orofacial cleft phenotypes.
Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinberg, Justin L Cotney

medRxiv· March 2023

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Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.
Emma Wentworth Winchester, Alexis Hardy, Justin Cotney

Front Dent Med· November 2022

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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Justin Cotney

EMBO Mol Med· July 2022

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Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye.
Baul Yoon, Pan Yeung, Nicholas Santistevan, Lauren E Bluhm, Kenta Kawasaki, Justin Cotney

Biol Open· May 2022

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Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.
Julia Welzenbach, Nigel L Hammond, Miloš Nikolić, Frederic Thieme, Nina Ishorst, Justin Cotney

HGG Adv· July 2021

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Sarcomere function activates a p53-dependent DNA damage response that promotes polyploidization and limits in vivo cell engraftment.
Anthony M Pettinato, Dasom Yoo, Jennifer VanOudenhove, Yu-Sheng Chen, Rachel Cohn, Justin L Cotney

Cell Rep· May 2021

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A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Betty Bonfante, Pierre Faux, Nicolas Navarro, Javier Mendoza-Revilla, Morgane Dubied, Justin Cotney

Sci Adv· February 2021

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