Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, +43

Cell Reports

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, +19

European Journal of Human Genetics

Epileptic EncephalopathyGnao1 VariantsNeurological DisorderGeneticsPhenotypic Spectrum +7

GGC Repeat Expansion of <i>NOTCH2NLC</i> in Adult Patients with Leukoencephalopathy

Masaki Okubo, Hiroshi Doi, Ryoko Fukai, +25

Annals of Neurology

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, +30

The American Journal of Human Genetics

Neurodegenerative DiseasesNeurological DisorderDegenerative DiseaseNeurologyNeuroscience +3

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, +13

Journal of Human Genetics

SequencingEngineeringWhole-exome Sequencing DataCopy-number VariationsGenetics +10

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, +6

Journal of Human Genetics

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsMissense Mutation +5

Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

Mikiko Tada, Hiroshi Doi, Shigeru Koyano, +13

American Journal Of Pathology

Amyotrophic Lateral SclerosisNeuronal Cytoplasmic InclusionsMotor NeuronsNeuroanatomyExperimental Neuropathology +8

A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay

Ryoko Fukai, Yoko Hiraki, Gen Nishimura, +5

American Journal of Medical Genetics Part A

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, +13

Journal of Human Genetics

Intellectual ImpairmentMissense MutationsDevelopmental BiologyMendelian DisorderGenetic Disorder +7

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, +7

Journal of neurosurgery

Large Cisterna MagnaPediatric HydrocephalusClinical NeurologyDiagnosisBrain Lesion +17