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A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

Journal of human genetics, 2020-07, Vol.65 (7), p.589-590

Kaname, Tadashi

2020

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Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene

Endocrine Journal, 2018, Vol.65(2), pp.227-238

2018

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Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Journal of human genetics, 2019-04, Vol.64 (4), p.313-322

2019

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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Circulation Journal, 2020/06/25, Vol.84(7), pp.1183-1188

2020

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STAT6 gain-of-function variant exacerbates multiple allergic symptoms

Journal of allergy and clinical immunology, 2023-05, Vol.151 (5), p.1402-1409.e6

2023

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Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing

Journal of human genetics, 2023-06, Vol.68 (6), p.431-435

2023

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Feeding disorder in a patient with Wiedemann–Steiner syndrome

Pediatrics international, 2022-01, Vol.64 (1), p.e15203-n/a

2022

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A novel mutation in the GATAD2B gene associated with severe intellectual disability

Brain & development (Tokyo. 1979), 2019-03, Vol.41 (3), p.276-279

2019

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1

Journal of human genetics, 2021-10, Vol.66 (10), p.1029-1034

2021

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A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

Journal of human genetics, 2017-08, Vol.62 (8), p.739-740

2017

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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

International journal of hematology, 2021-08, Vol.114 (2), p.297-300

2021

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Autoimmune hemolytic anemia associated with Takenouchi–Kosaki syndrome

Pediatrics international, 2021-12, Vol.63 (12), p.1528-1530

2021

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Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants

Molecular genetics & genomic medicine, 2024-02, Vol.12 (2), p.e2396-n/a

2024

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KARS‐related diseases with macrothrombocytes and pulmonary arterial hypertension

Pediatrics international, 2023-01, Vol.65 (1), p.e15428-n/a

2023

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Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Journal of human genetics, 2019-07, Vol.64 (7), p.665-671

2019

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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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Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis

Internal Medicine, 2021/04/01, Vol.60(7), pp.1109-1114

2021

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A gain‐of‐function mutation in microRNA 142 is sufficient to cause the development of T‐cell leukemia in mice

Cancer science, 2023-07, Vol.114 (7), p.2821-2834

2023

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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Human genome variation, 2021-04, Vol.8 (1), p.14-14, Article 14

2021

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Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

BMC neurology, 2024-01, Vol.24 (1), p.9-9, Article 9

2024

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A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.135-139

2021

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Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.219-14, Article 219

2024

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

International journal of hematology, 2023-04, Vol.117 (4), p.622-625

2023

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A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

STAT6 gain-of-function variant exacerbates multiple allergic symptoms

Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing

Feeding disorder in a patient with Wiedemann–Steiner syndrome

A novel mutation in the GATAD2B gene associated with severe intellectual disability

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

Autoimmune hemolytic anemia associated with Takenouchi–Kosaki syndrome

Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants

Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice

KARS‐related diseases with macrothrombocytes and pulmonary arterial hypertension

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Four pedigrees with aminoacyl-tRNA synthetase abnormalities

Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis

A gain‐of‐function mutation in microRNA 142 is sufficient to cause the development of T‐cell leukemia in mice

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation

Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

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