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Apolipoprotein C‐III O‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation

Journal of mass spectrometry., 2021-04, Vol.56 (4), p.e4597-n/a

2021

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Kabuki syndrome: international consensus diagnostic criteria

Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95

2019

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Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

Scientific reports, 2021-09, Vol.11 (1), p.17990-17990, Article 17990

2021

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Journal of human genetics, 2022-03, Vol.67 (3), p.157-164

2022

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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.852-855

2016

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Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs

Stem cell research, 2023-12, Vol.73, p.103221-103221, Article 103221

2023

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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.741-746

2017

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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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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

Journal of human genetics, 2022-03, Vol.67 (3), p.169-173

2022

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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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KDM6A Point Mutations Cause Kabuki Syndrome

Human mutation, 2013-01, Vol.34 (1), p.108-110

2013

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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

Scientific reports, 2019-03, Vol.9 (1), p.4418-4418, Article 4418

2019

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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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Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation

Mass Spectrometry, 2022/08/10, Vol.11(1), pp.A0104-A0104

2022

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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

Journal of human genetics, 2023-04, Vol.68 (4), p.247-253

2023

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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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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

Journal of human genetics, 2023-05, Vol.68 (5), p.363-367

2023

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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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Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation

Mass Spectrometry, 2022/04/15, Vol.11(1), pp.A0103-A0103

2022

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Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing

Genomics (San Diego, Calif.), 2021-01, Vol.113 (1), p.1044-1053

2021

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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Journal of human genetics, 2021-04, Vol.66 (4), p.401-407

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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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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Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome

Biochemical and biophysical research communications, 2020-09, Vol.529 (4), p.1033-1037

2020

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Apolipoprotein C‐III O‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation

Kabuki syndrome: international consensus diagnostic criteria

Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs

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

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

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

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

KDM6A Point Mutations Cause Kabuki Syndrome

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

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

Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

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

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

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

Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation

Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

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

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

Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome

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