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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.
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.
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.
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.
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: lesmann h. 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.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
Lesmann H, Hustinx A, Moosa S, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Klinkhammer H, Hagen MT, 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, Goel H, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Barakat TS, Nabil A, Suh J, Averdunk L, Ekure E, Graziano C, Phowthongkum P, Güzel N, Haack TB, Brunet T, Rudnik-Schöneborn S, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Martinez-Monseny AF, Höller M, Alaaeldin K, Jezela-Stanek A, Mohamed A, Lasa-Aranzasti A, Sayer JA, Hu P, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Krüger E, Küry S, Arlt A, Marbach F, Netzer C, Kaptain S, Weiland H, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Devriendt K, Gripp KW, Mücke M, Verloes A, Schaaf CP, Nellåker C, Solomon BD, Waikel RL, Nöthen MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC. Lesmann H, et al. medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.