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Page 1
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: knoflach k. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: knoflach k. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
ABCA3-related interstitial lung disease beyond infancy.
Li Y, Seidl E, Knoflach K, Gothe F, Forstner ME, Michel K, Pawlita I, Gesenhues F, Sattler F, Yang X, Kroener C, Reu-Hofer S, Ley-Zaporozhan J, Kammer B, Krüger-Stollfuß I, Dinkel J, Carlens J, Wetzke M, Moreno-Galdó A, Torrent-Vernetta A, Lange J, Krenke K, Rumman N, Mayell S, Sismanlar T, Aslan A, Regamey N, Proesmans M, Stehling F, Naehrlich L, Ayse K, Becker S, Koerner-Rettberg C, Plattner E, Manali ED, Papiris SA, Campo I, Kappler M, Schwerk N, Griese M. Li Y, et al. Among authors: knoflach k. Thorax. 2023 Jun;78(6):587-595. doi: 10.1136/thorax-2022-219434. Epub 2023 Feb 20. Thorax. 2023. PMID: 36808083 Free PMC article.
Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!
Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, Robinson PN, Griese M; ChILD EU Collaborators. Knoflach K, et al. Pediatr Pulmonol. 2023 Apr;58(4):1106-1121. doi: 10.1002/ppul.26301. Epub 2023 Jan 13. Pediatr Pulmonol. 2023. PMID: 36588100 Free PMC article.
Autoimmune pulmonary alveolar proteinosis in children.
Griese M, Panagiotou P, Manali ED, Stahl M, Schwerk N, Costa V, Douros K, Kallieri M, Urbantat RM, von Bernuth H, Kolilekas L, Morais L, Ramos A, Landwehr K, Knoflach K, Gothe F, Reiter K, Papaevangelou V, Kaditis AG, Kanaka-Gantenbein C, Papiris SA. Griese M, et al. Among authors: knoflach k. ERJ Open Res. 2022 Mar 21;8(1):00701-2021. doi: 10.1183/23120541.00701-2021. eCollection 2022 Jan. ERJ Open Res. 2022. PMID: 35350279 Free PMC article.
Acute exacerbations in children's interstitial lung disease.
Seidl E, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Lange J, Krenke K, Szepfalusi Z, Stehling F, Baden W, Hämmerling S, Jerkic SP, Proesmans M, Ullmann N, Buchvald F, Knoflach K, Kappler M; chILD EU collaborators; Griese M. Seidl E, et al. Among authors: knoflach k. Thorax. 2022 Aug;77(8):799-804. doi: 10.1136/thoraxjnl-2021-217941. Epub 2022 Feb 11. Thorax. 2022. PMID: 35149584 Free article.
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
Gothe F, Gehrig J, Rapp CK, Knoflach K, Reu-Hofer S, Länger F, Schramm D, Ley-Zaporozhan J, Ehl S, Schwerk N, Faletti L, Griese M. Gothe F, et al. Among authors: knoflach k. Pediatr Pulmonol. 2021 Dec;56(12):3934-3941. doi: 10.1002/ppul.25684. Epub 2021 Sep 28. Pediatr Pulmonol. 2021. PMID: 34549903
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: knoflach k. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.