Detalhe da pesquisa
1.
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Genome Res
; 33(3): 435-447, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37307504
2.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35948005
3.
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Ann Neurol
; 95(3): 607-613, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38062616
4.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33711248
5.
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.
J Hum Genet
; 69(1): 27-31, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37848721
6.
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
J Hum Genet
; 69(3-4): 153-157, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38216729
7.
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
J Hum Genet
; 69(2): 85-90, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38030753
8.
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
J Hum Genet
; 69(2): 69-77, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38012394
9.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
J Hum Genet
; 69(3-4): 163-167, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38228874
10.
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
J Neurol Neurosurg Psychiatry
; 2024 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38816190
11.
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
J Med Genet
; 60(4): 359-367, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36113987
12.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34346499
13.
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Am J Hum Genet
; 106(1): 13-25, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31839203
14.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-32169168
15.
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
J Hum Genet
; 68(4): 247-253, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36509868
16.
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
J Hum Genet
; 68(5): 363-367, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36631501
17.
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
J Hum Genet
; 68(12): 875-878, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37592133
18.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet
; 68(10): 689-697, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37308565
19.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Clin Genet
; 103(5): 590-595, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36576140
20.
Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Eur J Neurol
; 30(5): 1256-1261, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36705320