GestaltMatcher facilitates rare disease matching using facial phenotype descriptors-Reference-Cited by-同舟云学术

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Published:2022-02-10 Issue:3 Volume:54 Page:349-357
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hsieh Tzung-Chien^ORCID,Bar-Haim Aviram^ORCID,Moosa Shahida^ORCID,Ehmke Nadja,Gripp Karen W.,Pantel Jean Tori^ORCID,Danyel Magdalena,Mensah Martin Atta,Horn Denise,Rosnev Stanislav^ORCID,Fleischer Nicole,Bonini Guilherme,Hustinx Alexander,Schmid Alexander,Knaus Alexej,Javanmardi Behnam^ORCID,Klinkhammer Hannah^ORCID,Lesmann Hellen^ORCID,Sivalingam Sugirthan^ORCID,Kamphans Tom,Meiswinkel Wolfgang,Ebstein Frédéric,Krüger Elke^ORCID,Küry Sébastien^ORCID,Bézieau Stéphane^ORCID,Schmidt Axel^ORCID,Peters Sophia,Engels Hartmut,Mangold Elisabeth,Kreiß Martina,Cremer Kirsten,Perne Claudia,Betz Regina C.^ORCID,Bender Tim,Grundmann-Hauser Kathrin,Haack Tobias B.,Wagner Matias^ORCID,Brunet Theresa^ORCID,Bentzen Heidi Beate^ORCID,Averdunk Luisa,Coetzer Kimberly Christine^ORCID,Lyon Gholson J.^ORCID,Spielmann Malte,Schaaf Christian P.,Mundlos Stefan,Nöthen Markus M.^ORCID,Krawitz Peter M.^ORCID

Funder

Deutsche Forschungsgemeinschaft

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

https://www.nature.com/articles/s41588-021-01010-x.pdf

Reference45 articles.

1. Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885–892 (2019).

2. Baird, P. A., Anderson, T. W., Newcombe, H. B. & Lowry, R. B. Genetic disorders in children and young adults: a population study. Am. J. Hum. Genet. 42, 677–693 (1988).

3. Hart, T. C. & Hart, P. S. Genetic studies of craniofacial anomalies: clinical implications and applications. Orthod. Craniofac. Res. 12, 212–220 (2009).

4. Marbach, F. et al. 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, 749–757 (2019).

5. Ferry, Q. et al. Diagnostically relevant facial gestalt information from ordinary photos. eLife 3, e02020 (2014).

Cited by 97 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genomic and biological panoramas of non-muscle actinopathies;2024-08-21

2. Automated Multi-Class Facial Syndrome Classification Using Transfer Learning Techniques;Bioengineering;2024-08-13

3. Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee;European Journal of Medical Genetics;2024-08

4. Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children;Postgraduate Medical Journal;2024-07-29

5. Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder;Clinical Genetics;2024-07-26