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Benjamin D Solomon

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Articles 161
Citations 3900
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Recent Articles
1.
Kirchhoff A, Hustinx A, Javanmardi B, Hsieh T, Brand F, Hellmann F, et al.
Eur J Hum Genet . 2025 Jan; 33(3):377-382. PMID: 39815041
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. Therefore, publishing images of...
2.
Duong D, Solomon B
Eur J Hum Genet . 2025 Jan; 33(3):281-288. PMID: 39806188
Artificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research. This review focuses on previous,...
3.
Solomon B, Khatri P
J Allergy Clin Immunol . 2024 Sep; 155(1):213-218.e4. PMID: 39278360
Background: The rate of diagnosis of mast cell activation syndrome (MCAS) has increased since the disorder's original description as a mastocytosis-like phenotype. While a set of consortium MCAS criteria is...
4.
Flaharty K, Hu P, Hanchard S, Ripper M, Duong D, Waikel R, et al.
Am J Hum Genet . 2024 Aug; 111(9):1819-1833. PMID: 39146935
Large language models (LLMs) are generating interest in medical settings. For example, LLMs can respond coherently to medical queries by providing plausible differential diagnoses based on clinical notes. However, there...
5.
Morimoto M, Ryu E, Steger B, Dixit A, Saito Y, Yoo J, et al.
Am J Hum Genet . 2024 Aug; 111(9):1970-1993. PMID: 39106866
The precise regulation of DNA replication is vital for cellular division and genomic integrity. Central to this process is the replication factor C (RFC) complex, encompassing five subunits, which loads...
6.
Patel T, Othman A, Sumer O, Hellman F, Krawitz P, Andre E, et al.
Bioinformatics . 2024 Jun; 40(Suppl 1):i110-i118. PMID: 38940144
Artificial intelligence (AI) is increasingly used in genomics research and practice, and generative AI has garnered significant recent attention. In clinical applications of generative AI, aspects of the underlying datasets...
7.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq . 2024 Jun; PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
8.
Waikel R, Othman A, Patel T, Hanchard S, Hu P, Tekendo-Ngongang C, et al.
JAMA Netw Open . 2024 Mar; 7(3):e242609. PMID: 38488790
Importance: The lack of standardized genetics training in pediatrics residencies, along with a shortage of medical geneticists, necessitates innovative educational approaches. Objective: To compare pediatric resident recognition of Kabuki syndrome...
9.
Chung W, Dasgupta S, Regier D, Solomon B
Genet Med . 2024 Mar; 26(6):101121. PMID: 38469792
No abstract available.
10.
Duong D, Johny A, Hanchard S, Fortney C, Flaharty K, Hellmann F, et al.
PLoS Genet . 2024 Feb; 20(2):e1011168. PMID: 38412177
Artificial intelligence (AI) for facial diagnostics is increasingly used in the genetics clinic to evaluate patients with potential genetic conditions. Current approaches focus on one type of AI called Deep...