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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: waikel rl. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin … See abstract for full author list ➔ Lesmann H, et al. Among authors: waikel rl. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Human and computer attention in assessing genetic conditions.
Duong D, Johny AR, Hanchard SL, Fortney C, Hellmann F, Hu P, Javanmardi B, Moosa S, Patel T, Persky S, Sümer Ö, Tekendo-Ngongang C, Hsieh TC, Waikel RL, André E, Krawitz P, Solomon BD. Duong D, et al. Among authors: waikel rl. medRxiv [Preprint]. 2023 Jul 28:2023.07.26.23293119. doi: 10.1101/2023.07.26.23293119. medRxiv. 2023. Update in: PLoS Genet. 2024 Feb 27;20(2):e1011168. doi: 10.1371/journal.pgen.1011168. PMID: 37577564 Free PMC article. Updated. Preprint.
Generative Methods for Pediatric Genetics Education.
Waikel RL, Othman AA, Patel T, Hanchard SL, Hu P, Tekendo-Ngongang C, Duong D, Solomon BD. Waikel RL, et al. medRxiv [Preprint]. 2023 Aug 2:2023.08.01.23293506. doi: 10.1101/2023.08.01.23293506. medRxiv. 2023. PMID: 37790417 Free PMC article. Preprint.
Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.
Duong D, Johny AR, Ledgister Hanchard S, Fortney C, Flaharty K, Hellmann F, Hu P, Javanmardi B, Moosa S, Patel T, Persky S, Sümer Ö, Tekendo-Ngongang C, Lesmann H, Hsieh TC, Waikel RL, André E, Krawitz P, Solomon BD. Duong D, et al. Among authors: waikel rl. PLoS Genet. 2024 Feb 27;20(2):e1011168. doi: 10.1371/journal.pgen.1011168. eCollection 2024 Feb. PLoS Genet. 2024. PMID: 38412177 Free PMC article.
Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics.
Patel T, Othman AA, Sümer Ö, Hellman F, Krawitz P, André E, Ripper ME, Fortney C, Persky S, Hu P, Tekendo-Ngongang C, Hanchard SL, Flaharty KA, Waikel RL, Duong D, Solomon BD. Patel T, et al. Among authors: waikel rl. Bioinformatics. 2024 Jun 28;40(Suppl 1):i110-i118. doi: 10.1093/bioinformatics/btae239. Bioinformatics. 2024. PMID: 38940144 Free PMC article.
Scoping review and classification of deep learning in medical genetics.
Ledgister Hanchard SE, Dwyer MC, Liu S, Hu P, Tekendo-Ngongang C, Waikel RL, Duong D, Solomon BD. Ledgister Hanchard SE, et al. Among authors: waikel rl. Genet Med. 2022 Aug;24(8):1593-1603. doi: 10.1016/j.gim.2022.04.025. Epub 2022 May 25. Genet Med. 2022. PMID: 35612590 Free PMC article. Review.
17 results