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Page 1
Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Kraft F, et al. Among authors: knopp c. Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31. Science. 2024. PMID: 39480921
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease.
Xu Y, Kuppe C, Perales-Patón J, Hayat S, Kranz J, Abdallah AT, Nagai J, Li Z, Peisker F, Saritas T, Halder M, Menzel S, Hoeft K, Kenter A, Kim H, van Roeyen CRC, Lehrke M, Moellmann J, Speer T, Buhl EM, Hoogenboezem R, Boor P, Jansen J, Knopp C, Kurth I, Smeets B, Bindels E, Reinders MEJ, Baan C, Gribnau J, Hoorn EJ, Steffens J, Huber TB, Costa I, Floege J, Schneider RK, Saez-Rodriguez J, Freedman BS, Kramann R. Xu Y, et al. Among authors: knopp c. Nat Genet. 2022 Nov;54(11):1690-1701. doi: 10.1038/s41588-022-01202-z. Epub 2022 Oct 27. Nat Genet. 2022. PMID: 36303074 Free PMC article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: knopp c. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735 Free PMC article.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: knopp c. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Among authors: knopp c. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: knopp c. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
AUTS2-related syndrome: Insights from a large European cohort.
Loberti L, Adamo L, Antolini E, Casamassima G, Destrèe A, Brunetti-Pierri N, Genevieve D, Christophe P, Coubes C, Van Esch H, Herget T, Kortüm F, Lisfeld J, Möllring AC, Zenker M, Levy J, Perrin L, Tabet AC, Maruani A, Sorlin A, Stieber D, Herissant L, Dahan K, Sinibaldi L, Capolino R, Dentici ML, Dallapiccola B, Novelli A, Garavelli L, Caraffi SG, Piatelli G, Valenzuela I, Digilio MC, Caumes R, Knopp C, Chwiałkowska K, Jezela-Stanek A, Kwasniewski M, Korotko U, Gorzałczyńska E, Canitano R, Grosso S, Rahikkala E, Mattern L, Elbracht M, Zuffardi O, Caputo V, Toschi B, Beunders G, Leeuwen L, Elting MW, van der Laan L, Broekema MF, Groffen AJ, van de Kamp JM, van Haelst MM, Alders M, Mauro SP, De Razza F, Varvara D, Kick J, Gaspar H, Braun D, Lausberg E, Maier A, Ruault V, Genesio R, Tartaglia M, Tita R, Bruttini M, Longo I, Baldassarri M, Mencarelli MA, Renieri A, Pinto AM. Loberti L, et al. Among authors: knopp c. Genet Med. 2025 Feb 12;27(6):101375. doi: 10.1016/j.gim.2025.101375. Online ahead of print. Genet Med. 2025. PMID: 39953909 Free article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: knopp c. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
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, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: knopp c. 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.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao 趙孝端 HT. Paul MS, et al. Among authors: knopp c. Am J Hum Genet. 2024 Jun 6;111(6):1239. doi: 10.1016/j.ajhg.2024.04.022. Epub 2024 May 8. Am J Hum Genet. 2024. PMID: 38723631 Free PMC article. No abstract available.
39 results