List of works - Kwanghyuk Lee

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

scientific article published on 10 January 2006

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

scientific article

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

scientific article published on 22 September 2011

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

scientific article published on 21 September 2006

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

scientific article

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

scientific article

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

scientific article published on 10 January 2018

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

scientific article published on 21 December 2015

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

scientific article

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

scientific article published on January 2011

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

scientific article published on 20 April 2015

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

scientific article published on 01 September 2018

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

scientific article

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

scientific article published on 22 December 2010

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

scientific article published on 01 December 2006

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

scientific article published on 05 November 2018

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

scientific article

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

scientific article published in April 2018

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

scientific article

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

scientific article

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

scientific article

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

scientific article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

scientific article published on 20 June 2018

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

scientific article published on 19 April 2007

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

scientific article

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

scientific article

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

scientific article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

scientific article published on 10 June 2011

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

scientific article published on 13 January 2012

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

scientific article published on 23 November 2012

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

scientific article

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

scientific article published on 20 February 2009

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

scientific article

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

scientific article published on 03 September 2018

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

scientific article

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

scientific article

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

scientific article

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

scientific article published in December 2017

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

scientific article published on 15 December 2007

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

scientific article published in July 2010

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

scientific article

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

scientific article

List of works by Kwanghyuk Lee

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23