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Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

Journal of human genetics, 2021-03, Vol.66 (3), p.321-325

2021

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Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Human mutation, 2017-06, Vol.38 (6), p.637-648

2017

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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population

Human genome variation, 2024-06, Vol.11 (1), p.24-5, Article 24

2024

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Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

Clinical genetics, 2023-04, Vol.103 (4), p.383-391

2023

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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

American journal of human genetics, 2020-04, Vol.106 (4), p.549-558

2020

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A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

Journal of human genetics, 2018-05, Vol.63 (5), p.673-676

2018

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Journal of human genetics, 2015-04, Vol.60 (4), p.175-182

2015

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1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD

Biomolecular NMR assignments, 2024-06, Vol.18 (1), p.59-63

2024

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A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

Journal of human genetics, 2016-02, Vol.61 (2), p.177-179

2016

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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration

Human molecular genetics, 2019-07, Vol.28 (14), p.2319-2329

2019

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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Genetics in medicine, 2019-07, Vol.21 (7), p.1629-1638

2019

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Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate

Brain & development (Tokyo. 1979), 2021-08, Vol.43 (7), p.798-803

2021

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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

American journal of human genetics, 2016-10, Vol.99 (4), p.950-961

2016

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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Journal of human genetics, 2018-12, Vol.63 (12), p.1223-1229

2018

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Novel SUZ12 mutations in Weaver‐like syndrome

Clinical genetics, 2018-11, Vol.94 (5), p.461-466

2018

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A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

British journal of haematology, 2018-06, Vol.181 (6), p.843-847

2018

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Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

Journal of human genetics, 2015-07, Vol.60 (7), p.381-385

2015

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A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100619-100619, Article 100619

2020

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The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation

Brain & development (Tokyo. 1979), 2018-04, Vol.40 (4), p.325-329

2018

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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.378-383

2019

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Risk assessment of acetaminophen-induced liver injury in citrin deficiency using a citrin deficiency knockout mouse model

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108193, Article 108193

2024

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Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism

Human genome variation, 2018-01, Vol.5 (1), p.18-4, Article 18

2018

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Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

Journal of human genetics, 2023-09, Vol.68 (9), p.643-648

2023

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Polymicrogyria in a child with KCNMA1-related channelopathy

Brain & development (Tokyo. 1979), 2022-02, Vol.44 (2), p.173-177

2022

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Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum

Journal of medical genetics, 2024-06, Vol.61 (6), p.590

2024

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Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Novel SUZ12 mutations in Weaver‐like syndrome

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Risk assessment of acetaminophen-induced liver injury in citrin deficiency using a citrin deficiency knockout mouse model

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

Polymicrogyria in a child with KCNMA1-related channelopathy

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum

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