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List of works by Elizabeth Leslie

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

scientific article published on 22 March 2016

A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence

scientific article

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

scientific article published in June 2010

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

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

scientific article published on 16 January 2014

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

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

scientific article

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

scientific article published on 19 December 2013

Ear Infection in Isolated Cleft Lip: Etiological Implications.

scientific article published on 8 July 2015

Embracing human genetics: a primer for developmental biologists

scientific article published on 02 July 2020

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

scientific article published on 10 October 2012

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

scientific article published on 26 December 2016

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

scientific article

Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

scientific article published on 16 February 2016

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome‐wide association on chromosome 1p22 ⬇️

scientific article published on September 24, 2012

Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities

scientific article

Genetics of cleft lip and cleft palate.

scientific article published on 04 October 2013

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

scientific article

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

Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts

scientific article published on 11 September 2018

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation

scientific article published on 09 August 2016

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families

scientific article published on 8 September 2015

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

scientific article published on 10 November 2017

Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

scientific article published on 13 March 2017

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

scientific article

Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing

scientific article published on 01 July 2017

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

scientific article published on 21 December 2015

Presence of epilepsy-associated variants in large exome databases.

scientific article published on 25 March 2013

Rare and Common Variants Conferring Risk of Tooth Agenesis.

scientific article

Relationship of Genetic Variants With Procedural Pain, Anxiety, and Distress in Children.

scientific article published on 13 March 2017

Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.

scientific article published on 18 March 2015

Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).

scientific article published on 5 March 2013

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

scientific article published on 15 August 2013

Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis.

scientific article published on 15 May 2017

Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

scientific article published on 08 September 2017

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