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Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.
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.
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.
Hsieh TC, Lesmann H, Krawitz PM.
Hsieh TC, et al. Among authors: lesmann h.
Curr Protoc. 2023 Oct;3(10):e906. doi: 10.1002/cpz1.906.
Curr Protoc. 2023.
PMID: 37812136
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K.
Oppermann H, et al. Among authors: lesmann h.
Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30.
Eur J Hum Genet. 2023.
PMID: 37644171
Free PMC article.
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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, 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, …
See abstract for full author list ➔
Lesmann H, et al.
medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887.
medRxiv. 2024.
PMID: 37503210
Free PMC article.
Preprint.
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PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A.
Kampmeier A, et al. Among authors: lesmann h.
Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022.
Front Cell Dev Biol. 2023.
PMID: 36726590
Free PMC article.
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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: lesmann h.
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.
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Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial.
Joachim A, Dewald F, Suárez I, Zemlin M, Lang I, Stutz R, Marthaler A, Bosse HM, Lübke N, Münch J, Bernard MA, Jeltsch K, Tönshoff B, Weidner N, Kräusslich HG, Birzele L, Hübner J, Schmied P, Meyer-Bühn M, Horemheb-Rubio G, Cornely OA, Haverkamp H, Wiesmüller G, Fätkenheuer G, Hero B, Kaiser R, Dötsch J, Rybniker J; B-FAST study group.
Joachim A, et al.
EClinicalMedicine. 2021 Sep;39:101082. doi: 10.1016/j.eclinm.2021.101082. Epub 2021 Aug 25.
EClinicalMedicine. 2021.
PMID: 34458708
Free PMC article.
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