List of works - Naomichi Matsumoto

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

scientific article published on 28 June 2019

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

scientific article published on 03 September 2018

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

scientific article published on 31 July 2020

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

scientific article published on 08 October 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.

scientific article published on 7 June 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

scientific article published on 20 August 2020

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

scientific article published on 01 November 2020

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

scientific article published on 06 April 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

scientific article published on 01 November 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

scientific article published on 25 July 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

scientific article published on 26 April 2022

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

scientific article published on 20 January 2021

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

scientific article published on 22 July 2019

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

scientific article published on 19 November 2020

Novel CLTC variants cause new brain and kidney phenotypes

scientific article published on 07 July 2021

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

scientific article published on 10 October 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants

scientific article published on 30 July 2020

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

scientific article published on 28 June 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

scientific article published on 18 June 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

scientific article published on 09 October 2020

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

scientific article published on 03 November 2020

List of works by Naomichi Matsumoto