Detalhe da pesquisa
1.
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.
J Hum Genet
; 69(1): 47-52, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950019
2.
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging.
Hum Genomics
; 17(1): 8, 2023 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774528
3.
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.
Am J Med Genet A
; 191(3): 882-892, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563181
4.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958122
5.
Further delineation of SET-related intellectual disability syndrome.
Am J Med Genet A
; 188(5): 1595-1599, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122673
6.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
7.
A novel variant of ARPC4-related neurodevelopmental disorder.
Am J Med Genet A
; 191(3): 893-895, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513617
8.
Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay.
Pediatr Int
; 64(1): e14734, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714572
9.
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Front Neurol
; 14: 1085228, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251230
10.
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
Mol Syndromol
; 13(3): 221-225, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35707592
11.
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Mol Syndromol
; 13(1): 75-79, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221879
12.
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
Mol Syndromol
; 12(2): 127-132, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012383
13.
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.
Hum Genome Var
; 7: 29, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33062288
14.
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Brain Dev
; 42(9): 639-645, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565002
15.
Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon.
Brain Dev
; 41(6): 538-541, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30795918