Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.
N Engl J Med
; 389(13): 1203-1210, 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754285
3.
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
4.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
5.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
6.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet
; 106(2): 234-245, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31928709
7.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Hum Mutat
; 43(10): 1347-1353, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731190
8.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
9.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
10.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
11.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Ann Neurol
; 86(1): 129-142, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025394
12.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
13.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(11): 2206, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739836
14.
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Genet Med
; 21(11): 2512-2520, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105274
15.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
16.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
17.
Three families with mild PMM2-CDG and normal cognitive development.
Am J Med Genet A
; 173(6): 1620-1624, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425223
18.
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Am J Med Genet A
; 170(8): 2173-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27250579
19.
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.
Am J Med Genet A
; 167A(8): 1913-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847626
20.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405995