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List of works by John R. Shaffer

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

scientific article published on 22 March 2016

A Preliminary Genome-Wide Association Study of Pain-Related Fear: Implications for Orofacial Pain.

scientific article

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

scientific article published on 30 March 2016

A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals

scientific article published on 06 June 2019

Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

scientific article published on 24 December 2018

Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

scientific article published on 19 April 2017

Caries Experience Differs between Females and Males across Age Groups in Northern Appalachia

scientific article

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

scientific article

GWAS reveals loci associated with velopharyngeal dysfunction.

scientific article published on 31 May 2018

Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries.

scientific article published on 28 February 2017

Genetic association and differential expression of PITX2 with acute appendicitis

scientific article

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

scientific article

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations

scientific article published on 19 August 2021

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

scientific article

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

scientific article published on 12 May 2013

Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

scientific article published on 24 June 2019

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate

scientific article

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.

scientific article published on 25 April 2017

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

scientific article published on 10 November 2017

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Insights into the genetic architecture of the human face

scientific article published on 07 December 2020

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

scientific article published in August 2018

Mapping genetic variants for cranial vault shape in humans.

scientific article published on 26 April 2018

Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges

scientific article published on February 2012

Novel genetic loci affecting facial shape variation in humans

scientific article published on 26 November 2019

Oral health and related risk indicators in north-central Appalachia differ by rurality

scientific article published on 28 December 2020

Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape

scientific article published on 28 October 2020

Periodontal Status and Quality of Life: Impact of Fear of Pain and Dental Fear.

scientific article published on 09 March 2017

Persistent pain in postmastectomy patients: Comparison of psychophysical, medical, surgical, and psychosocial characteristics between patients with and without pain ⬇️

scientific article published on 05 December 2012

Predictors of dental care utilization in north-central Appalachia in the USA

scientific article published on 17 April 2019

Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries

scientific article published on 19 January 2017

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