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
em Inglês
| MEDLINE
| ID: mdl-37307504
2.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet;
61(6): 590-594, 2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38228391
3.
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.
J Hum Genet;
69(7): 345-348, 2024 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38589508
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.
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
J Neurol Neurosurg Psychiatry;
2024 May 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38816190
9.
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.
Neurobiol Dis;
185: 106261, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37579995
10.
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
11.
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
em Inglês
| MEDLINE
| ID: mdl-32169168
12.
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
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.
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
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.
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
17.
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
18.
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
19.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics;
114(5): 110468, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36041635
20.
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet;
141(2): 283-293, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35031858