Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.
PLoS Genet
; 20(2): e1011168, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412177
3.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
4.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
5.
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Am J Med Genet A
; : e63641, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725242
6.
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
Pediatr Radiol
; 54(1): 82-95, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953411
7.
Computational facial analysis for rare Mendelian disorders.
Am J Med Genet C Semin Med Genet
; 193(3): e32061, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584245
8.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet
; 193(3): e32056, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654076
9.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
10.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
11.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet
; 104(4): 749-757, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905398
12.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
13.
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
J Inherit Metab Dis
; 41(3): 533-539, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29623569
14.
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
Genes (Basel)
; 15(3)2024 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540429
15.
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.
ArXiv
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711434
16.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293138
17.
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.
Curr Protoc
; 3(10): e906, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812136
18.
Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders.
Stud Health Technol Inform
; 302: 932-936, 2023 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203539
19.
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank.
Front Genet
; 14: 1286561, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38075701
20.
Human and computer attention in assessing genetic conditions.
medRxiv
; 2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577564