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Infernal 1.0: inference of RNA alignments

Bioinformatics, 2009-05, Vol.25 (10), p.1335-1337

2009

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Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

Cell reports (Cambridge), 2019-03, Vol.26 (11), p.3160-3171.e3

2019

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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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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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Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

Brain & development (Tokyo. 1979), 2016-10, Vol.38 (9), p.848-851

2016

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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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Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

Annals of otology, rhinology & laryngology, 2016-11, Vol.125 (11), p.918-923

2016

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Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype

PloS one, 2012-03, Vol.7 (3), p.e32941-e32941

2012

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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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De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.169S-176S

2015

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Rfam: updates to the RNA families database

Nucleic acids research, 2009-01, Vol.37 (Database issue), p.D136-D140

2009

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Rfam: Wikipedia, clans and the "decimal" release

Nucleic acids research, 2011-01, Vol.39 (Database issue), p.D141-D145

2011

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USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.123S-128S

2015

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Human genetics, 2023-06, Vol.142 (6), p.819-834

2023

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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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Fast filtering for RNA homology search

Bioinformatics, 2011-11, Vol.27 (22), p.3102-3109

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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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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Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

BioMed research international, 2016-01, Vol.2016 (2016), p.1-8

2016

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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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Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.184S-192S

2015

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Local RNA structure alignment with incomplete sequence

Bioinformatics, 2009-05, Vol.25 (10), p.1236-1243

2009

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Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.177S-183S

2015

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Audioprofile Surfaces: The 21st Century Audiogram

Annals of otology, rhinology & laryngology, 2016-05, Vol.125 (5), p.361-368

2016

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Infernal 1.0: inference of RNA alignments

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

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

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

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

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype

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

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss

Rfam: updates to the RNA families database

Rfam: Wikipedia, clans and the "decimal" release

USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

De novo variants are a common cause of genetic hearing loss

DNM1 encephalopathy: A new disease of vesicle fission

Fast filtering for RNA homology search

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

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

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

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

Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Local RNA structure alignment with incomplete sequence

Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

Audioprofile Surfaces: The 21st Century Audiogram

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