Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
3.
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.
Genet Med
; 25(6): 100830, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36939041
4.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Hum Mutat
; 43(8): 1097-1113, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837432
5.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
6.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
7.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
8.
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Am J Med Genet A
; 188(11): 3184-3190, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36065636
9.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 28(17): 2900-2919, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127942
10.
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
Nature
; 518(7539): 409-12, 2015 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25470045
11.
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.
Hum Mutat
; 41(8): 1365-1371, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383249
12.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696996
13.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
14.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576985
15.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Genet Med
; 21(9): 2135-2144, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890783
16.
Gene-targeting pharmaceuticals for single-gene disorders.
Hum Mol Genet
; 25(R1): R18-26, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26628634
17.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
18.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 29(5): 877-878, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027362
19.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216405
20.
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Genet Med
; 19(8): 936-944, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125085