List of works - Nobuhiko Okamoto

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

scientific article published on 23 June 2019

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

scientific article published on 14 May 2020

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

scientific article published on 4 August 2017

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

scientific article

Bardet-Biedl syndrome and related disorders in Japan

scientific article published on 25 May 2020

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern

scientific article published on 09 September 2020

Clinical and molecular spectrum of CHOPS syndrome

scientific article published on 06 May 2019

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

scientific article published on 02 March 2018

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

scientific article published on 8 August 2017

Congenital arhinia: molecular-genetic analysis of five patients

scientific article published in March 2007

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Cover Image, Volume 176A, Number 3, March 2018

scientific article published on 01 March 2018

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

scientific article published on 26 June 2017

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

scientific article published on 02 January 2019

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

scientific article published on 12 July 2017

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

scientific article published on 25 July 2017

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome

scientific article published on 17 January 2018

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

scientific article

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

scientific article published on 04 February 2022

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

scientific article published on 29 March 2018

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation

scientific article published on 02 April 2019

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

scientific article published on 29 March 2017

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation

scientific article published on 29 April 2019

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

scientific article published on 3 April 2009

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities

scientific article published on 15 November 2018

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

scientific article published on 01 July 2008

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

Novel MCA/ID syndrome with ASH1L mutation

scientific article published on 10 April 2017

Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation

scientific article published on 21 February 2019

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

scientific article published on 5 April 2018

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

scientific article published on 26 July 2017

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype

scientific article published on 08 March 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

scientific article published on 30 November 2017

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

scientific article published on 23 January 2018

List of works by Nobuhiko Okamoto