Detalhe da pesquisa
1.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
2.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics
; 299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625590
3.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Hum Genomics
; 17(1): 7, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765386
4.
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
J Med Genet
; 60(7): 717-721, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599645
5.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
6.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
7.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
8.
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Am J Med Genet A
; 188(6): 1667-1675, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146895
9.
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Mov Disord
; 36(3): 771-774, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33165979
10.
GRM7-related disorder: five additional patients from three independent families and review of the literature.
Eur J Med Genet
; 67: 104893, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070825
11.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
medRxiv
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260255
12.
Loss of function of ADNP by an intragenic inversion.
Eur J Hum Genet
; 31(8): 967-970, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828924
13.
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
Eur J Med Genet
; 63(8): 103942, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439617
14.
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Neurol Genet
; 7(6): e630, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746378