Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
3.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
4.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
5.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
6.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
7.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740920
8.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
9.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321323
10.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266241
11.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
12.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
13.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
14.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003604
15.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest
; 134(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357931
16.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658419
17.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577678
18.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Sci Adv
; 7(20)2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980485
19.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
; 109(2): 241-256.e9, 2021 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220177
20.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Mol Genet Genomic Med
; 8(11): e1508, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969205