Search details
1.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet
; 2024 Jan 16.
Article
in English
| MEDLINE | ID: mdl-38228391
2.
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Am J Hum Genet
; 106(4): 549-558, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32169168
3.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Article
in English
| MEDLINE | ID: mdl-32243864
4.
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.
J Hum Genet
; 68(9): 643-648, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37268768
5.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36645289
6.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30985895
7.
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.
J Hum Genet
; 66(3): 321-325, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32908218
8.
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Clin Genet
; 98(6): 606-612, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32812661
9.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Am J Hum Genet
; 99(4): 950-961, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27666374
10.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Genet Med
; 21(7): 1629-1638, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30467404
11.
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Ann Neurol
; 84(6): 843-853, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30412317
12.
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
J Hum Genet
; 63(5): 673-676, 2018 May.
Article
in English
| MEDLINE | ID: mdl-29491473
13.
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
J Hum Genet
; 63(12): 1223-1229, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30258207
14.
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
Clin Genet
; 94(6): 548-553, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30051457
15.
Novel SUZ12 mutations in Weaver-like syndrome.
Clin Genet
; 94(5): 461-466, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30019515
16.
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Hum Mutat
; 38(6): 637-648, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28229514
17.
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Hum Mutat
; 38(3): 317-323, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28054739
18.
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.
J Hum Genet
; 61(2): 177-9, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26490182
19.
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
J Neurol Neurosurg Psychiatry
; 87(2): 212-6, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-25995486
20.
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
Clin Calcium
; 26(4): 515-23, 2016 Apr.
Article
in Japanese
| MEDLINE | ID: mdl-27013621