Detalhe da pesquisa
1.
Drawing human pedigree charts with DrawPed.
Nucleic Acids Res
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38726873
2.
REEV: review, evaluate and explain variants.
Nucleic Acids Res
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769069
3.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 143(5): 683-694, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592547
4.
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.
Nucleic Acids Res
; 50(W1): W322-W329, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639768
5.
Deep phenotyping: symptom annotation made simple with SAMS.
Nucleic Acids Res
; 50(W1): W677-W681, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524573
6.
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
Nucleic Acids Res
; 50(W1): W83-W89, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489060
7.
Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks.
BMC Genomics
; 24(1): 736, 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049725
8.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379057
9.
Aviator: a web service for monitoring the availability of web services.
Nucleic Acids Res
; 49(W1): W46-W51, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038559
10.
MutationTaster2021.
Nucleic Acids Res
; 49(W1): W446-W451, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893808
11.
Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.
Nucleic Acids Res
; 48(10): 5306-5317, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338759
12.
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic Acids Res
; 48(W1): W162-W169, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338743
13.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Nucleic Acids Res
; 47(W1): W114-W120, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106342
14.
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
Nucleic Acids Res
; 47(W1): W106-W113, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106382
15.
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
J Med Genet
; 56(3): 164-175, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487246
16.
Editorial: the 21st annual Nucleic Acids Research Web Server Issue 2023.
Nucleic Acids Res
; 51(W1): W1-W4, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309890
17.
Phenotero: Annotate as you write.
Clin Genet
; 95(2): 287-292, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417324
18.
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Genome Res
; 24(2): 340-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24162188
19.
A systematic, large-scale comparison of transcription factor binding site models.
BMC Genomics
; 17: 388, 2016 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27209209
20.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623388