Lista de obras - Naomichi Matsumoto - Dominio Público Uruguay

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

artículo científico publicado en 2019

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

artículo científico publicado en 2018

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

artículo científico publicado en 2020

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

artículo científico publicado en 2020

Clinical and genetic characteristics of patients with Doose syndrome

scientific article published on 23 July 2020

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

artículo científico publicado en 2019

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

scientific article published on 23 July 2019

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

artículo científico publicado en 2020

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

artículo científico publicado en 2021

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

scientific article published on 18 January 2019

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

artículo científico publicado en 2020

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

scientific article published on 16 July 2019

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

artículo científico publicado en 2017

GRIN2D variants in three cases of developmental and epileptic encephalopathy

article

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

artículo científico publicado en 2022

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

artículo científico publicado en 2021

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

artículo científico publicado en 2019

Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy

artículo científico publicado en 2020

Novel CLTC variants cause new brain and kidney phenotypes

artículo científico publicado en 2021

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

artículo científico publicado en 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants

artículo científico publicado en 2020

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

scientific article published on 27 October 2019

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

artículo científico publicado en 2021

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

artículo científico publicado en 2020

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

artículo científico publicado en 2020

Lista de obras de Naomichi Matsumoto

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

Clinical and genetic characteristics of patients with Doose syndrome

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy

Novel CLTC variants cause new brain and kidney phenotypes

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

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Whole exome sequencing of fetal structural anomalies detected by ultrasonography