List of works - Hisato Suzuki

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

scientific article published on 24 September 2019

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

scientific article published on 10 August 2017

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

scientific article published on 23 May 2019

A rare variant in CYP27A1 and its association with atopic dermatitis with high serum total IgE.

scientific article published on 4 June 2016

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

scientific article published on 18 November 2018

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

scientific article published on 31 December 2020

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

scientific article published on 15 February 2019

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

scientific article published on 11 September 2019

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

scientific article published on 15 June 2019

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

scientific article published on 05 May 2020

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

scientific article published on 01 June 2020

De novo NSF mutations cause early infantile epileptic encephalopathy

scientific article published on 01 November 2019

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

scientific article published on 29 May 2019

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

scientific article published on 04 February 2022

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

scientific article published on 01 December 2018

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

scientific article published on 05 October 2018

IFT172 as the 19th gene causative of oral-facial-digital syndrome

scientific article published on 06 October 2019

Medical genetics and genomic medicine in Japan

scientific article published on 21 May 2019

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

scientific article published on 29 May 2019

Novel ARX mutation identified in infantile spasm syndrome patient

scientific article published on 31 March 2020

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

scientific article published on 11 August 2020

Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension

scientific article published on 02 September 2019

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

scientific article published on 16 August 2017

SATB2-associated syndrome in patients from Japan: Linguistic profiles

scientific article published on 07 March 2019

SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension

scientific article published on 01 November 2018

Schuurs-Hoeijmakers syndrome in two patients from Japan

scientific article published on 27 December 2018

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers

scientific article published on 07 June 2019

Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations

scientific article published on 10 December 2020

Truncating mutation in CSNK2B and myoclonic epilepsy.

scientific article published on 14 September 2017

List of works by Hisato Suzuki