Detalhe da pesquisa
1.
REEV: review, evaluate and explain variants.
Nucleic Acids Res
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769069
2.
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.
J Med Internet Res
; 26: e42904, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477981
3.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int
; 43(5): 1089-1095, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938759
4.
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
J Med Internet Res
; 22(10): e19263, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090109
5.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
6.
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Am J Med Genet A
; 176(4): 992-996, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575616
7.
Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms.
Clin J Gastroenterol
; 17(2): 300-306, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38133737
8.
Three-Dimensional Histological Characterization of the Placental Vasculature Using Light Sheet Microscopy.
Biomolecules
; 13(6)2023 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371590
9.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet
; 31(8): 905-917, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188825
10.
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Front Neurol
; 13: 1113811, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36703628
11.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
; 54(3): 349-357, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145301
12.
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
NAR Genom Bioinform
; 3(3): lqab078, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514393
13.
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.
BMC Med Genomics
; 12(1): 6, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630535
14.
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
Eur J Hum Genet
; 27(12): 1827-1835, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31320746
15.
Evaluation of the role of STAP1 in Familial Hypercholesterolemia.
Sci Rep
; 9(1): 11995, 2019 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427613