Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Genome Res
; 33(3): 435-447, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307504
3.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
4.
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
em Inglês
| MEDLINE | ID: mdl-38216729
5.
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
J Hum Genet
; 69(2): 85-90, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030753
6.
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
J Hum Genet
; 69(2): 69-77, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012394
7.
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
em Inglês
| MEDLINE | ID: mdl-38228874
8.
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
BMC Pediatr
; 24(1): 308, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711055
9.
[Perioperative management for fracture in a child with homozygous congenital protein C deficiency].
Rinsho Ketsueki
; 65(3): 164-168, 2024.
Artigo
em Japonês
| MEDLINE | ID: mdl-38569860
10.
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Hum Mol Genet
; 30(21): 1919-1931, 2021 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34124757
11.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346499
12.
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
em Inglês
| MEDLINE | ID: mdl-36509868
13.
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
em Inglês
| MEDLINE | ID: mdl-36631501
14.
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
J Hum Genet
; 68(12): 875-878, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592133
15.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet
; 68(10): 689-697, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308565
16.
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Rheumatology (Oxford)
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606963
17.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645289
18.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Clin Genet
; 103(5): 590-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576140
19.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain
; 145(3): 1139-1150, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355059
20.
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics
; 114(5): 110469, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041634