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Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice

Nature communications, 2020-01, Vol.11 (1), p.482-482, Article 482

2020

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Journal of human genetics, 2021-05, Vol.66 (5), p.491-498

2021

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Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs

Immunity (Cambridge, Mass.), 2017-05, Vol.46 (5), p.835-848.e4

2017

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Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy

Nature communications, 2021-09, Vol.12 (1), p.5547-5547, Article 5547

2021

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Efficacy of ethosuximide on atonic seizures with KCNB1 mutation

Pediatric investigation, 2022-01, Vol.64 (1), p.e14871-n/a

2022

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Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2472-2478

2022

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Landscape of prognostic signatures and immunogenomics of the AXL/GAS6 axis in renal cell carcinoma

British journal of cancer, 2021-11, Vol.125 (11), p.1533-1543

2021

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Café-au-lait Spots and Cleft Palate: Not a Chance Association

The Cleft palate-craniofacial journal, 2024-11, Vol.61 (11), p.1932-1936

2024

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Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63614-n/a

2024

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Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Nature communications, 2022-08, Vol.13 (1), p.4659-4659, Article 4659

2022

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Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses

Clinical genetics, 2023-04, Vol.103 (4), p.466-471

2023

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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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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

Journal of human genetics, 2022-12, Vol.67 (12), p.739-742

2022

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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

European journal of medical genetics, 2023-02, Vol.66 (2), p.104690-104690, Article 104690

2023

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The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.446-453

2022

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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

Scientific reports, 2024-08, Vol.14 (1), p.19741-10, Article 19741

2024

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Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

Scientific reports, 2024-03, Vol.14 (1), p.6506-6506, Article 6506

2024

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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

Journal of medical genetics, 2019-06, Vol.56 (6), p.388-395

2019

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KIF1A mutation in a patient with progressive neurodegeneration

Journal of human genetics, 2014-11, Vol.59 (11), p.639-641

2014

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Four pedigrees with aminoacyl-tRNA synthetase abnormalities

Neurological sciences, 2022-04, Vol.43 (4), p.2765-2774

2022

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Two cases of DYNC1H1 mutations with intractable epilepsy

Brain & development (Tokyo. 1979), 2021-09, Vol.43 (8), p.857-862

2021

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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption

Congenital anomalies, 2023-07, Vol.63 (4), p.121-124

2023

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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

BMC neurology, 2022-01, Vol.22 (1), p.20-20, Article 20

2022

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Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance

Diabetes (New York, N.Y.), 2017-10, Vol.66 (10), p.2713-2723

2017

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Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs

Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy

Efficacy of ethosuximide on atonic seizures with KCNB1 mutation

Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect

Landscape of prognostic signatures and immunogenomics of the AXL/GAS6 axis in renal cell carcinoma

Café-au-lait Spots and Cleft Palate: Not a Chance Association

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly

Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses

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

Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumors

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

KIF1A mutation in a patient with progressive neurodegeneration

Four pedigrees with aminoacyl-tRNA synthetase abnormalities

Two cases of DYNC1H1 mutations with intractable epilepsy

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance

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