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.
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
4.
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
5.
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
6.
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
7.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Am J Med Genet A
; : e63656, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760879
8.
Taz1-Shelterin Promotes Facultative Heterochromatin Assembly at Chromosome-Internal Sites Containing Late Replication Origins.
Mol Cell
; 62(6): 862-874, 2016 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27264871
9.
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Stroke
; 54(5): 1236-1245, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942588
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.
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
em Inglês
| MEDLINE | ID: mdl-31839203
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.
Brain
; 145(9): 3010-3021, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411397
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.
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.
Nature
; 543(7643): 126-130, 2017 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28199302