Publications by authors named "John Shaffer"

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Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Sarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, Katherine Singleton, Terri H Beaty, John R Shaffer

Hum Mol Genet· December 2025

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Deleterious variants in LTBP4 are associated with severe pediatric sepsis.
Yidi Qin, Kate F Kernan, Yulong Bai, John R Shaffer, Zsolt Urban

Pediatr Res· October 2025

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DNA methylation associations with cognitive function in early-stage hormone receptor-positive breast cancer patients.
Shuwei Liu, Dongjing Liu, Catherine M Bender, Kirk I Erickson, Susan M Sereika, John R Shaffer

Epigenomics· September 2025

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BioBricks.ai: a versioned data registry for life sciences data assets.
Yifan Gao, Zakariyya Mughal, Jose A Jaramillo-Villegas, Marie Corradi, Alexandre Borrel, John Shaffer

Front Artif Intell· September 2025

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Genetic susceptibility to oral and atherosclerotic cardiovascular diseases based on dental and heart SCORE studies.
Mariana Bezamat, Dylan J Baxter, Nandita Mukhopadhyay, Anum Saeed, Lei Liu, John R Shaffer

Sci Rep· September 2025

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Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.
Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, John R Shaffer

PLoS Genet· September 2025

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Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.
Zeynep Erdogan-Yildirim, Jenna C Carlson, Nandita Mukhopadhyay, Elizabeth J Leslie-Clarkson, Carmencita D Padilla, John R Shaffer

Genes (Basel)· July 2025

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Development and pilot administration of the amputation-related pain and sensation assessment tool.
Kierra J Falbo, Isabel F Baca, John D Shaffer, Brian J Hafner, Erin E Krebs

Disabil Rehabil· March 2025

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Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.
Meng Yuan, Seppe Goovaerts, Myoung K Lee, Jay Devine, Stephen Richmond, John R Shaffer

Brief Bioinform· March 2025

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Genome-Wide Scan of Fifth Finger Clinodactyly.
Myoung Keun Lee, Noah Herrick, Mary L Marazita, John R Shaffer, Seth M Weinberg

Mol Genet Genomic Med· March 2025

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Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.
Seppe Goovaerts, Sahin Naqvi, Hanne Hoskens, Noah Herrick, Meng Yuan, John R Shaffer

Commun Biol· March 2025

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Genome scan reveals several loci associated with torus palatinus.
Myoung Keun Lee, Ahmed M El Sergani, Noah Herrick, Rebecca M Green, Carmencita Padilla, John R Shaffer

Orthod Craniofac Res· February 2025

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Effects of depression and stress on oral self-care among perinatal women in Appalachia: A longitudinal study.
Jeongwi An, Christa Lilly, John R Shaffer, Betsy Foxman, Mary L Marazita

Community Dent Oral Epidemiol· December 2024

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Mapping genes for human face shape: Exploration of univariate phenotyping strategies.
Meng Yuan, Seppe Goovaerts, Michiel Vanneste, Harold Matthews, Hanne Hoskens, John R Shaffer

PLoS Comput Biol· December 2024

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Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos.
Zeynep Erdogan-Yildirim, Jenna C Carlson, Nandita Mukhopadhyay, Elizabeth J Leslie, Carmencita Padilla, John R Shaffer

medRxiv· December 2024

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Innovations in Amputation Rehabilitation and Prosthetic Design.
Mary E Matsumoto, Juan Cave, John Shaffer

Phys Med Rehabil Clin N Am· November 2024

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Associations between DNA methylation and cognitive function in early-stage hormone receptor-positive breast cancer patients.
Shuwei Liu, Dongjing Liu, Catherine M Bender, Kirk I Erickson, Susan M Sereika, John R Shaffer

medRxiv· November 2024

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The impact of breastfeeding on facial appearance in adolescent children.
Seppe Goovaerts, Ahmed M El Sergani, Myoung Keun Lee, John R Shaffer, Peter Claes

PLoS One· September 2024

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BioBricks.ai: A Versioned Data Registry for Life Sciences Data Assets.
Yifan Gao, Zakariyya Mughal, Jose A Jaramillo-Villegas, Marie Corradi, Alexandre Borrel, John Shaffer

ArXiv· August 2024

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Maternal perceptions of assisting preschool-aged children with toothbrushing.
Emyli Peralta, Tayla J Tallman, Carly A Scala, Brette N Scala, Zelda T Dahl, John R Shaffer

J Am Dent Assoc· July 2024

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Mapping genes for human face shape: exploration of univariate phenotyping strategies.
Meng Yuan, Seppe Goovaerts, Michiel Vanneste, Harold Matthews, Hanne Hoskens, John R Shaffer

bioRxiv· June 2024

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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Anthony M Musolf, Cristina M Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R Shaffer

Sci Rep· April 2024

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A common regulatory variant impacts normal-range and disease-associated human facial shape through regulation of during chondrogenesis.
Jaaved Mohammed, Neha Arora, Harold S Matthews, Karissa Hansen, Maram Bader, John R Shaffer

Elife· March 2024

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Risk of Postpartum Dental Caries: Survival Analysis of Black/African American and White Women in Appalachia.
Morgan Byrd, Elyse Davis, Freida Blostein, Deesha Bhaumik, John R Shaffer

Womens Health Rep (New Rochelle)· February 2024

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Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Seppe Goovaerts, Hanne Hoskens, Ryan J Eller, Noah Herrick, Anthony M Musolf, John R Shaffer

Nat Commun· November 2023

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