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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Human genetics, 2016-04, Vol.135 (4), p.441-450

2016

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Copy number variants are a common cause of non-syndromic hearing loss

Genome medicine, 2014-05, Vol.6 (5), p.37-37

2014

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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Human mutation, 2010-06, Vol.31 (6), p.E1445-E1460

2010

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Exonic mutations and exon skipping: Lessons learned from DFNA5

Human mutation, 2018-03, Vol.39 (3), p.433-440

2018

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Causes of Alternative Pathway Dysregulation in Dense Deposit Disease

Clinical journal of the American Society of Nephrology, 2012-02, Vol.7 (2), p.265-274

2012

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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

Journal of the American Society of Nephrology, 2016-04, Vol.27 (4), p.1245-1253

2016

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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Journal of medical genetics, 2015-12, Vol.52 (12), p.823-829

2015

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De novo variants are a common cause of genetic hearing loss

Genetics in medicine, 2022-12, Vol.24 (12), p.2555-2567

2022

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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

Human genetics, 2020-10, Vol.139 (10), p.1315-1323

2020

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Ophthalmic genetics, 2020-04, Vol.41 (2), p.151-158

2020

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Determination of the TLR4 Genotype Using Allele-Specific PCR

BioTechniques, 2001-07, Vol.31 (1), p.22-24

2001

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The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

The journal of maternal-fetal & neonatal medicine, 2012-11, Vol.25 (11), p.2322-2325

2012

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Genes other than TLR4 are involved in the response to inhaled LPS

American journal of physiology. Lung cellular and molecular physiology, 2001-11, Vol.281 (5), p.1106-L1114

2001

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Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock

Archives of internal medicine (1960), 2002-05, Vol.162 (9), p.1028

2002

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Grain Dust and Endotoxin Inhalation Challenges Produce Similar Inflammatory Responses in Normal Subjects

Chest, 1996-07, Vol.110 (1), p.263-270

1996

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Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

Journal of the American Society of Nephrology, 2018-12, Vol.29 (12), p.2809-2819

2018

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Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients

Otolaryngology-head and neck surgery, 2022-04, Vol.166 (4), p.734-737

2022

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De novo mutations are a common cause of genetic hearing loss

Genetics in medicine, 2022-10, Vol.24 (12), p.2555-2567

2022

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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Hearing research, 2017-05, Vol.348, p.138-142

2017

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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Human genetics, 2020-12, Vol.139 (12), p.1565-1574

2020

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Allelic Variants of Complement Genes Associated with Dense Deposit Disease

Journal of the American Society of Nephrology, 2011-08, Vol.22 (8), p.1551-1559

2011

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Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

Otolaryngology-head and neck surgery, 2018-12, Vol.159 (6), p.1058-1060

2018

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Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy

American journal of clinical pathology, 2018-09, Vol.150 (suppl_1), p.S131-S131

2018

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.988-997

2021

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TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

Nature genetics, 2000-06, Vol.25 (2), p.187-191

2000

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Copy number variants are a common cause of non-syndromic hearing loss

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Exonic mutations and exon skipping: Lessons learned from DFNA5

Causes of Alternative Pathway Dysregulation in Dense Deposit Disease

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

De novo variants are a common cause of genetic hearing loss

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Determination of the TLR4 Genotype Using Allele-Specific PCR

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

Genes other than TLR4 are involved in the response to inhaled LPS

Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock

Grain Dust and Endotoxin Inhalation Challenges Produce Similar Inflammatory Responses in Normal Subjects

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients

De novo mutations are a common cause of genetic hearing loss

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Allelic Variants of Complement Genes Associated with Dense Deposit Disease

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

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