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

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan

Journal of human genetics, 2013-03, Vol.58 (3), p.117-117

Naritomi, Kenji

2013

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Nature genetics, 2006-03, Vol.38 (3), p.294-296

2006

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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Journal of human genetics, 2012-12, Vol.57 (12), p.787-795

2012

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Journal of human genetics, 2012-03, Vol.57 (3), p.207-211

2012

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A commentary on the promise of whole-exome sequencing in medical genetics

Journal of human genetics, 2014-03, Vol.59 (3), p.117-118

2014

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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Human genome variation, 2022-03, Vol.9 (1), p.9-9, Article 9

2022

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1511-1516

2011

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A severe case of status dystonicus caused by a de novo KMT2B missense mutation

European journal of medical genetics, 2020-11, Vol.63 (11), p.104057-104057, Article 104057

2020

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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1221-1237

2013

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A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Journal of human genetics, 2013-02, Vol.58 (2), p.57-57

2013

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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Human genome variation, 2019-05, Vol.6 (1), p.23-23, Article 23

2019

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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Human genome variation, 2020-04, Vol.7 (1), p.11-11, Article 11

2020

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Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

Journal of human genetics, 2015-01, Vol.60 (1), p.27-34

2015

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Prenatal diagnosis of X‐linked recessive Lenz microphthalmia syndrome

The journal of obstetrics and gynaecology research, 2013-11, Vol.39 (11), p.1545-1547

2013

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

Journal of human genetics, 2009-05, Vol.54 (5), p.304-309

2009

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Mapping Human Genetic Diversity in Asia

Science (American Association for the Advancement of Science), 2009-12, Vol.326 (5959), p.1541-1545

2009

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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

Autism Research and Treatment, 2012-01, Vol.2012, p.724072-5

2012

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Haploinsufficiency of NSD1 causes Sotos syndrome

Nature genetics, 2002-04, Vol.30 (4), p.365-366

2002

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Genetic dating indicates that the Asian–Papuan admixture through Eastern Indonesia corresponds to the Austronesian expansion

Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (12), p.4574-4579

2012

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Population genetic structure of peninsular Malaysia Malay sub-ethnic groups

PloS one, 2011-04, Vol.6 (4), p.e18312-e18312

2011

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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Human genome variation, 2020-04, Vol.7 (1), p.11

2020

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Novel alternative splicing of human faciogenital dysplasia 1 gene

Congenital anomalies, 2004-09, Vol.44 (3), p.137-141

2004

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Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

Clinical case reports, 2018-02, Vol.6 (2), p.330-336

2018

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

In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

A commentary on the promise of whole-exome sequencing in medical genetics

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

A severe case of status dystonicus caused by a de novo KMT2B missense mutation

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

Prenatal diagnosis of X‐linked recessive Lenz microphthalmia syndrome

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

Mapping Human Genetic Diversity in Asia

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

Haploinsufficiency of NSD1 causes Sotos syndrome

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

Genetic dating indicates that the Asian–Papuan admixture through Eastern Indonesia corresponds to the Austronesian expansion

Population genetic structure of peninsular Malaysia Malay sub-ethnic groups

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Novel alternative splicing of human faciogenital dysplasia 1 gene

Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

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