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KBG syndrome

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.183-183, Article 183

2017

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DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

Arthritis & rheumatology (Hoboken, N.J.), 2013-08, Vol.65 (8), p.2183-2189

2013

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Radiation-Induced Phosphorylation of a Prion-Like Domain Regulates Transformation by FUS-CHOP

Cancer research (Chicago, Ill.), 2021-10, Vol.81 (19), p.4939-4948

2021

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

PloS one, 2012-11, Vol.7 (11), p.e50628-e50628

2012

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FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Proceedings of the National Academy of Sciences - PNAS, 2014-07, Vol.111 (27), p.9864-9868

2014

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ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Proceedings of the National Academy of Sciences - PNAS, 2016-05, Vol.113 (21), p.5993-5998

2016

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Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

European journal of pediatrics, 2014-06, Vol.173 (6), p.827-830

2014

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A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Hearing research, 2016-03, Vol.333, p.179-184

2016

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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Human genetics, 2015-02, Vol.134 (2), p.181-190

2015

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Discrete Adaptive Responses to MEK Inhibitor in Subpopulations of Triple-Negative Breast Cancer

Molecular cancer research, 2020-11, Vol.18 (11), p.1685-1698

2020

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MS0621, a novel small-molecule modulator of Ewing sarcoma chromatin accessibility, interacts with an RNA-associated macromolecular complex and influences RNA splicing

Frontiers in oncology, 2023-01, Vol.13, p.1099550-1099550

2023

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SLITRK6 mutations cause myopia and deafness in humans and mice

The Journal of clinical investigation, 2013-05, Vol.123 (5), p.2094-2102

2013

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Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

International journal of pediatric otorhinolaryngology, 2014-11, Vol.78 (11), p.1870-1873

2014

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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.128-128, Article 128

2015

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An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability

PloS one, 2013, Vol.8 (12), p.e82810

2013

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Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Molecular genetics and genomics : MGG, 2015-08, Vol.290 (4), p.1327-1334

2015

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MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

The Journal of pediatrics, 2015-08, Vol.167 (2), p.489-491

2015

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Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

International journal of pediatric otorhinolaryngology, 2017-07, Vol.98, p.59-63

2017

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Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Genetic testing and molecular biomarkers, 2014-09, Vol.18 (9), p.658

2014

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Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

Clinical case reports, 2017-04, Vol.5 (4), p.376-379

2017

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

International journal of pediatric otorhinolaryngology, 2017-10, Vol.101, p.167-171

2017

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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Annals of human genetics, 2016-11, Vol.80 (6), p.327-331

2016

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Genetic screening revealed usher syndrome in a paediatric Chinese patient

Hearing, balance and communication, 2017-01, Vol.15 (2), p.98-106

2017

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KBG syndrome

DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Radiation-Induced Phosphorylation of a Prion-Like Domain Regulates Transformation by FUS-CHOP

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Discrete Adaptive Responses to MEK Inhibitor in Subpopulations of Triple-Negative Breast Cancer

MS0621, a novel small-molecule modulator of Ewing sarcoma chromatin accessibility, interacts with an RNA-associated macromolecular complex and influences RNA splicing

SLITRK6 mutations cause myopia and deafness in humans and mice

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Genetic screening revealed usher syndrome in a paediatric Chinese patient

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