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Author Correction: 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, Bhasin 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… See abstract for full author list ➔ Schmidt A, et al. Among authors: klinkhammer h. Nat Genet. 2025 Jun 24. doi: 10.1038/s41588-025-02271-6. Online ahead of print. Nat Genet. 2025. PMID: 40555819 No abstract available.
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY, Klinkhammer H, Choufani S, Reko N, Christman AK, Pisan E, Chui MMC, Lee M, Leduc F, Dempsey JC, Sanchez-Lara PA, Bombei HM, Bernat JA, Faivre L, Mau-Them FT, Palafoll IV, Canham N, Sarkar A, Zarate YA, Callewaert B, Bukowska-Olech E, Jamsheer A, Zankl A, Willems M, Duncan L, Isidor B, Cogne B, Boute O, Vanlerberghe C, Goldenberg A, Stolerman E, Low KJ, Gilard V, Amiel J, Lin AE, Gordon CT, Doherty D, Krawitz PM, Weksberg R, Hsieh TC, Chung BHY. Mak CCY, et al. Among authors: klinkhammer h. EBioMedicine. 2025 May;115:105677. doi: 10.1016/j.ebiom.2025.105677. Epub 2025 Apr 24. EBioMedicine. 2025. PMID: 40280028 Free PMC article.
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE, Gonzalez EM, Sangree AK, Durham EL, Klinkhammer H, Li JM, Smith SM, Layo-Carris DE, Clark KJ, Melendez-Perez AJ, Wang XM, Angireddy R, Weiss EE, Barakat TS, Mercier S, Cogné B, Koene S, Hilhorst-Hofstee Y, Rydzanicz M, Ploski R, de Los Ángeles Gómez Cano M, Palomares-Bralo M, Arévalo TB, Tan TY, Gallacher L, MacFarland SP, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJK. Lubin EE, et al. Among authors: klinkhammer h. HGG Adv. 2025 Jul 10;6(3):100440. doi: 10.1016/j.xhgg.2025.100440. Epub 2025 Apr 15. HGG Adv. 2025. PMID: 40241305 Free PMC article.
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY, Chen LW, Tsai MC, Chou YY, Lin PX, Chang YM, Hwu WL, Chien YH, Lin JL, Chen HA, Lee NC, Su PH, Hsieh TC, Klinkhammer H, Wang YC, Huang YT, Krawitz PM, Lin SH, Huang LLH, Chiang PM, Shih MH, Chen PC. Li CY, et al. Among authors: klinkhammer h. EBioMedicine. 2024 Dec;110:105476. doi: 10.1016/j.ebiom.2024.105476. Epub 2024 Nov 29. EBioMedicine. 2024. PMID: 39615461 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 CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, 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: klinkhammer h. Ann Neurol. 2024 Sep 20:10.1002/ana.27077. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
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, Bhasin 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… See abstract for full author list ➔ Schmidt A, et al. Among authors: klinkhammer h. 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.
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