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.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet;
106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32470376
4.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Hum Genet;
140(10): 1459-1469, 2021 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34436670
5.
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Clin Genet;
100(6): 758-765, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34482537
6.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A;
182(9): 2068-2076, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32592542
7.
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
8.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet;
54(3): 349-357, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35145301
9.
A machine learning-based screening tool for genetic syndromes in children.
Lancet Digit Health;
4(5): e295, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35461687