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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human mutation, 2018-11, Vol.39 (11), p.1593-1613

2018

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

PLoS genetics, 2020-04, Vol.16 (4), p.e1008643-e1008643

2020

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Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Scientific reports, 2022-01, Vol.12 (1), p.969-969, Article 969

2022

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Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.114-114, Article 114

2022

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Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis

Scientific reports, 2023-04, Vol.13 (1), p.6595-6595, Article 6595

2023

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The first sporadic case of DFNA11 identified by next-generation sequencing

International journal of pediatric otorhinolaryngology, 2017-09, Vol.100, p.183-186

2017

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Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations

Auris, nasus, larynx, 2020-12, Vol.47 (6), p.938-942

2020

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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

Genetics in medicine, 2019-10, Vol.21 (10), p.2409-2409

2019

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Inhibition of ganglioside synthesis reduces the neuronal survival activity of astrocytes

Neuroscience letters, 2011-01, Vol.488 (2), p.199-203

2011

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Lectin-dependent inhibition of antigen-antibody reaction: application for measuring α2,6-sialylated glycoforms of transferrin

Journal of biochemistry (Tokyo), 2013-09, Vol.154 (3), p.229-232

2013

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Siglec-7 mediates nonapoptotic cell death independently of its immunoreceptor tyrosine-based inhibitory motifs in monocytic cell line U937

Glycobiology (Oxford), 2010-03, Vol.20 (3), p.395-402

2010

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A large-scale analysis of odor coding in the olfactory epithelium

The Journal of neuroscience, 2011-06, Vol.31 (25), p.9179-9191

2011

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A clinical and genetic study of 16 Japanese families with Waardenburg syndrome

Gene, 2019-07, Vol.704, p.86-90

2019

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Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts

International journal of pediatric otorhinolaryngology, 2022-01, Vol.152, p.110975-110975, Article 110975

2022

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High Throughput ELISAs to Measure a Unique Glycan on Transferrin in Cerebrospinal Fluid: A Possible Extension toward Alzheimer's Disease Biomarker Development

International journal of alzheimer's disease, 2011, Vol.2011, p.352787-5

2011

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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247

2019

Volltextzugriff (PDF)

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212

2021

Volltextzugriff (PDF)

A unique N-glycan on human transferrin in CSF: a possible biomarker for iNPH

Neurobiology of aging, 2012-08, Vol.33 (8), p.1807-1815

2012

Volltextzugriff (PDF)

Elastase Inhibitor Elafin Is a New Type of Proteinase Inhibitor Which Has a Transglutaminase-Mediated Anchoring Sequence Termed “Cementoin”

Journal of biochemistry (Tokyo), 1994-03, Vol.115 (3), p.441-448

1994

Volltextzugriff (PDF)

Identification and Molecular Cloning of a Novel Brain-specific Receptor Protein That Binds to Brain Injury-derived Neurotrophic Peptide

The Journal of biological chemistry, 2001-08, Vol.276 (34), p.31929-31935

2001

Volltextzugriff (PDF)

Glycan biomaker in CSF

Rinsho Shinkeigaku, 2010, Vol.50(11), pp.971-972

2010

Volltextzugriff (PDF)

The Molecular Cloning and Expression of α2,8-Sialyltransferase (GD3 Synthase) in a Rat Brain

Journal of biochemistry (Tokyo), 1996-11, Vol.120 (5), p.1020-1027

1996

Volltextzugriff (PDF)

ClinGen expert clinical validity curation of 164 hearing lossgene–disease pairs

Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247

2019

Volltextzugriff (PDF)

'Glyco'-protein in cerebrospinal fluid as a diagnostic marker for dementia

Nihon rinshō, 2011-10, Vol.69 Suppl 8, p.69

2011

Volltextzugriff (PDF)

Chromosome Mapping of the GD3 Synthase Gene (SIAT8) in Human and Mouse

Genomics (San Diego, Calif.), 1996-02, Vol.32 (1), p.137-139

1996

Volltextzugriff (PDF)

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis

The first sporadic case of DFNA11 identified by next-generation sequencing

Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

Inhibition of ganglioside synthesis reduces the neuronal survival activity of astrocytes

Lectin-dependent inhibition of antigen-antibody reaction: application for measuring α2,6-sialylated glycoforms of transferrin

Siglec-7 mediates nonapoptotic cell death independently of its immunoreceptor tyrosine-based inhibitory motifs in monocytic cell line U937

A large-scale analysis of odor coding in the olfactory epithelium

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts

High Throughput ELISAs to Measure a Unique Glycan on Transferrin in Cerebrospinal Fluid: A Possible Extension toward Alzheimer's Disease Biomarker Development

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

A unique N-glycan on human transferrin in CSF: a possible biomarker for iNPH

Elastase Inhibitor Elafin Is a New Type of Proteinase Inhibitor Which Has a Transglutaminase-Mediated Anchoring Sequence Termed “Cementoin”

Identification and Molecular Cloning of a Novel Brain-specific Receptor Protein That Binds to Brain Injury-derived Neurotrophic Peptide

Glycan biomaker in CSF

The Molecular Cloning and Expression of α2,8-Sialyltransferase (GD3 Synthase) in a Rat Brain

ClinGen expert clinical validity curation of 164 hearing lossgene–disease pairs

'Glyco'-protein in cerebrospinal fluid as a diagnostic marker for dementia

Chromosome Mapping of the GD3 Synthase Gene (SIAT8) in Human and Mouse

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