Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, +28

Nature Genetics

Mendelian DisorderTranslational BiologyDisease MechanismGenetic DisorderGenetics +4

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

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, +43

Cell Reports

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, +40

American Journal of Medical Genetics Part A

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shino Shimada, Keiko Shimojima, Nobuhiko Okamoto, +30

Brain and Development

ChromatinCritical Chromosomal RegionsDeletion Syndrome-related ComplicationsGene Deletion DataGenetic Disorder +8

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Noriko Miyake, Osamu Shimokawa, Naoki Harada, +21

American Journal of Medical Genetics Part A

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

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, +24

Genome Medicine

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

The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, +29

American Journal of Medical Genetics Part A

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

Noriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, +20

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderNeuroanatomy +9