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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Clinical genetics, 2019-12, Vol.96 (6), p.575-578

2019

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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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GPSM2 mutations in Chudley-McCullough syndrome

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2972-2973

2012

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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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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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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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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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Enteroviruses and causality of type 1 diabetes: how close are we?

Pediatric diabetes, 2012-02, Vol.13 (1), p.92-99

2012

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Overexpression of the Na/Ca Exchanger Shapes Stimulus-Induced Cytosolic Ca2+ Oscillations in Insulin-Producing BRIN-BD11 Cells

Diabetes (New York, N.Y.), 2002-02, Vol.51 (2), p.366-375

2002

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Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2013-05, Vol.8 (5)

2013

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Na/Ca Exchanger Overexpression Induces Endoplasmic Reticulum–Related Apoptosis and Caspase-12 Activation in Insulin-Releasing BRIN-BD11 Cells

Diabetes (New York, N.Y.), 2002-06, Vol.51 (6), p.1815-1824

2002

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Islet cell related antibodies and type 1 diabetes associated with echovirus 30 epidemic: A case report

Journal of medical virology, 2005-07, Vol.76 (3), p.373-377

2005

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Na/Ca Exchange in Function, Growth, and Demise of β-Cells

Annals of the New York Academy of Sciences, 2002-11, Vol.976 (1), p.315-324

2002

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De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Human genetics, 2014-06, Vol.133 (6), p.737-742

2014

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Increased retinal endothelial cell monolayer permeability induced by the diabetic milieu: role of advanced non-enzymatic glycation and polyol pathway activation

Diabetes/metabolism research and reviews, 2001-11, Vol.17 (6), p.448-458

2001

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FOXF2 is required for cochlear development in humans and mice

Human molecular genetics, 2019-04, Vol.28 (8), p.1286-1297

2019

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Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (4), p.1347-1352

2019

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The circulating insulin-like growth factor system in children with coeliac disease: an additional marker for disease activity

Diabetes/metabolism research and reviews, 1999-07, Vol.15 (4), p.254-260

1999

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Overexpression of the Na/Ca exchanger shapes stimulus-induced cytosolic [Ca.sup.2+] oscillations in insulin-producing BRIN-BD11 cells

Diabetes (New York, N.Y.), 2002-02, Vol.51 (2), p.366

2002

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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Human genetics, 2018-07, Vol.137 (6-7), p.479-486

2018

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First-degree relatives of persons with type 1 diabetes: insulin resistance and enterovirus infection are associated with different patterns of islet cell autoimmunity

Acta diabetologica, 2013-04, Vol.50 (2), p.233-239

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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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

GPSM2 mutations in Chudley-McCullough syndrome

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

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

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

SLITRK6 mutations cause myopia and deafness in humans and mice

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

Enteroviruses and causality of type 1 diabetes: how close are we?

Overexpression of the Na/Ca Exchanger Shapes Stimulus-Induced Cytosolic Ca2+ Oscillations in Insulin-Producing BRIN-BD11 Cells

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Na/Ca Exchanger Overexpression Induces Endoplasmic Reticulum–Related Apoptosis and Caspase-12 Activation in Insulin-Releasing BRIN-BD11 Cells

Islet cell related antibodies and type 1 diabetes associated with echovirus 30 epidemic: A case report

Na/Ca Exchange in Function, Growth, and Demise of β-Cells

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Increased retinal endothelial cell monolayer permeability induced by the diabetic milieu: role of advanced non-enzymatic glycation and polyol pathway activation

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

FOXF2 is required for cochlear development in humans and mice

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

The circulating insulin-like growth factor system in children with coeliac disease: an additional marker for disease activity

Overexpression of the Na/Ca exchanger shapes stimulus-induced cytosolic [Ca.sup.2+] oscillations in insulin-producing BRIN-BD11 cells

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

First-degree relatives of persons with type 1 diabetes: insulin resistance and enterovirus infection are associated with different patterns of islet cell autoimmunity

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

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