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Endosomal Recycling Defects and Neurodevelopmental Disorders

Cells (Basel, Switzerland), 2022-01, Vol.11 (1), p.148

Saitoh, Shinji

2022

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Journal of human genetics, 2021-05, Vol.66 (5), p.491-498

2021

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Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan

Journal of autism and developmental disorders, 2022-05, Vol.52 (5), p.2149-2155

2022

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Evidence of both foetal inflammation and hypoxia–ischaemia is associated with meconium aspiration syndrome

Scientific reports, 2021-08, Vol.11 (1), p.16799-16799, Article 16799

2021

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A nationwide survey of Schaaf-Yang syndrome in Japan

Journal of human genetics, 2022-12, Vol.67 (12), p.735-738

2022

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Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome

Brain & development (Tokyo. 1979), 2021-04, Vol.43 (4), p.521-527

2021

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Two case reports of extended‐release guanfacine overdose in children

Pediatrics international, 2023-01, Vol.65 (1), p.e15424-n/a

2023

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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Journal of autism and developmental disorders, 2021-12, Vol.51 (12), p.4655-4662

2021

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Control variables of serum ferritin concentrations in hospitalized newborn infants: an observational study

Scientific reports, 2023-05, Vol.13 (1), p.8424-8424, Article 8424

2023

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

The Journal of pediatrics, 2016-04, Vol.171, p.171-177.e4

2016

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Death review of children receiving medical care at home

Pediatric research, 2022-04, Vol.91 (5), p.1286-1289

2022

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MYCN in human development and diseases

Frontiers in oncology, 2024-05, Vol.14, p.1417607-1417607

2024

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Influence of mothers’ nighttime responses on the sleep–wake rhythm of 1-month-old infants

Scientific reports, 2021-12, Vol.11 (1), p.24363-24363, Article 24363

2021

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Admission temperature of very low birth weight infants and outcomes at three years old

Scientific reports, 2022-07, Vol.12 (1), p.11912-7, Article 11912

2022

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Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing

Journal of human genetics, 2022-12, Vol.67 (12), p.711-720

2022

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Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study—Japan Environment and Children’s Study

Birth (Berkeley, Calif.), 2020-03, Vol.47 (1), p.67-79

2020

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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

PloS one, 2019-08, Vol.14 (8), p.e0221482-e0221482

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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Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury

Cell stem cell, 2018-01, Vol.22 (1), p.128-137.e9

2018

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Airway gas temperature within endotracheal tube can be monitored using rapid response thermometer

Scientific reports, 2021-05, Vol.11 (1), p.9537-9537, Article 9537

2021

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Utility of breakpoint‐specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome

Pediatrics international, 2021-12, Vol.63 (12), p.1534-1536

2021

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Autistic traits of children born very preterm assessed using Autism Diagnostic Observation Schedule, Second Edition

Early human development, 2023-01, Vol.176, p.105716-105716, Article 105716

2023

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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

Journal of medical genetics, 2020-04, Vol.57 (4), p.245-253

2020

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Diagnostic rate of autism spectrum disorder in a high‐survival cohort of children born very preterm: A cross‐sectional study

International journal of developmental neuroscience, 2022-04, Vol.82 (2), p.188-195

2022

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Endosomal Recycling Defects and Neurodevelopmental Disorders

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan

Evidence of both foetal inflammation and hypoxia–ischaemia is associated with meconium aspiration syndrome

A nationwide survey of Schaaf-Yang syndrome in Japan

Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome

Two case reports of extended‐release guanfacine overdose in children

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Control variables of serum ferritin concentrations in hospitalized newborn infants: an observational study

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Death review of children receiving medical care at home

MYCN in human development and diseases

Influence of mothers’ nighttime responses on the sleep–wake rhythm of 1-month-old infants

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Admission temperature of very low birth weight infants and outcomes at three years old

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing

Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study—Japan Environment and Children’s Study

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

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

Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury

Airway gas temperature within endotracheal tube can be monitored using rapid response thermometer

Utility of breakpoint‐specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome

Autistic traits of children born very preterm assessed using Autism Diagnostic Observation Schedule, Second Edition

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

Diagnostic rate of autism spectrum disorder in a high‐survival cohort of children born very preterm: A cross‐sectional study

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