Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493768
2.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
3.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
4.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Brain
; 147(4): 1264-1277, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37939785
5.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Hum Mol Genet
; 31(3): 362-375, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494102
6.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet
; 31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137044
7.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
8.
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment.
Mol Genet Metab
; 142(1): 108360, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428378
9.
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.
Mol Cell
; 64(4): 704-719, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27871366
10.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411967
11.
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II.
Epilepsia
; 64(2): 348-363, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527426
12.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
13.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633740
14.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982611
15.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
16.
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Int J Mol Sci
; 23(3)2022 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163267
17.
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Am J Hum Genet
; 103(6): 858-873, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503517
18.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267898
19.
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Am J Med Genet A
; 185(10): 2941-2950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089223
20.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Hum Mol Genet
; 27(16): 2775-2788, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741626