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Year Number of Results
2010 1
2011 1
2012 5
2013 6
2014 3
2015 2
2016 2
2017 4
2018 3
2019 8
2020 3
2021 5
2022 10
2023 11

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Page 1
Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression.
Koutsouleris N, Dwyer DB, Degenhardt F, Maj C, Urquijo-Castro MF, Sanfelici R, Popovic D, Oeztuerk O, Haas SS, Weiske J, Ruef A, Kambeitz-Ilankovic L, Antonucci LA, Neufang S, Schmidt-Kraepelin C, Ruhrmann S, Penzel N, Kambeitz J, Haidl TK, Rosen M, Chisholm K, Riecher-Rössler A, Egloff L, Schmidt A, Andreou C, Hietala J, Schirmer T, Romer G, Walger P, Franscini M, Traber-Walker N, Schimmelmann BG, Flückiger R, Michel C, Rössler W, Borisov O, Krawitz PM, Heekeren K, Buechler R, Pantelis C, Falkai P, Salokangas RKR, Lencer R, Bertolino A, Borgwardt S, Noethen M, Brambilla P, Wood SJ, Upthegrove R, Schultze-Lutter F, Theodoridou A, Meisenzahl E; PRONIA Consortium. Koutsouleris N, et al. Among authors: krawitz pm. JAMA Psychiatry. 2021 Feb 1;78(2):195-209. doi: 10.1001/jamapsychiatry.2020.3604. JAMA Psychiatry. 2021. PMID: 33263726 Free PMC article.
Perspectives on the future of dysmorphology.
Solomon BD, Adam MP, Fong CT, Girisha KM, Hall JG, Hurst ACE, Krawitz PM, Moosa S, Phadke SR, Tekendo-Ngongang C, Wenger TL. Solomon BD, et al. Among authors: krawitz pm. Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9. Am J Med Genet A. 2023. PMID: 36484420
Computational facial analysis for rare Mendelian disorders.
Hsieh TC, Krawitz PM. Hsieh TC, et al. Among authors: krawitz pm. Am J Med Genet C Semin Med Genet. 2023 Aug 16:e32061. doi: 10.1002/ajmg.c.32061. Online ahead of print. Am J Med Genet C Semin Med Genet. 2023. PMID: 37584245 Review.
AI-based multi-PRS models outperform classical single-PRS models.
Klau JH, Maj C, Klinkhammer H, Krawitz PM, Mayr A, Hillmer AM, Schumacher J, Heider D. Klau JH, et al. Among authors: krawitz pm. Front Genet. 2023 Jun 27;14:1217860. doi: 10.3389/fgene.2023.1217860. eCollection 2023. Front Genet. 2023. PMID: 37441549 Free PMC article.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: krawitz pm. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: krawitz pm. medRxiv. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. Preprint. medRxiv. 2023. PMID: 37398376 Free PMC article.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium; Haendel MA, Robinson PN. Jacobsen JOB, et al. Among authors: krawitz pm. Nat Biotechnol. 2022 Jun;40(6):817-820. doi: 10.1038/s41587-022-01357-4. Nat Biotechnol. 2022. PMID: 35705716 Free PMC article. No abstract available.
57 results