Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Ear Infection in Isolated Cleft Lip: Etiological Implications.

artículo científico publicado en 2015

Embracing human genetics: a primer for developmental biologists

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

artículo científico publicado en 2015

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

scientific article published on 16 February 2016

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

artículo científico publicado en 2016

Genetics of cleft lip and cleft palate.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

Presence of epilepsy-associated variants in large exome databases.

artículo científico

Rare and Common Variants Conferring Risk of Tooth Agenesis.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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).

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

scientific article published on 08 September 2017

Lista de obras de

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

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

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

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.

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

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

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

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

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

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

Ear Infection in Isolated Cleft Lip: Etiological Implications.

Embracing human genetics: a primer for developmental biologists

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

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

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

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

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

Genetics of cleft lip and cleft palate.

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

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

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

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

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation

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

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

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

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

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

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

Presence of epilepsy-associated variants in large exome databases.

Rare and Common Variants Conferring Risk of Tooth Agenesis.

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

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

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).

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

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

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