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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 … See abstract for full author list ➔ Schmidt A, et al. Among authors: holtgrewe m. 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.
REEV: review, evaluate and explain variants.
Hramyka D, Sczakiel HL, Zhao MX, Stolpe O, Nieminen M, Adam R, Danyel M, Einicke L, Hägerling R, Knaus A, Mundlos S, Schwartzmann S, Seelow D, Ehmke N, Mensah MA, Boschann F, Beule D, Holtgrewe M. Hramyka D, et al. Among authors: holtgrewe m. Nucleic Acids Res. 2024 Jul 5;52(W1):W148-W158. doi: 10.1093/nar/gkae366. Nucleic Acids Res. 2024. PMID: 38769069 Free PMC article.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Kopp J, Koch LA, Lyubenova H, Küchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B. Kopp J, et al. Among authors: holtgrewe m. Hum Genet. 2024 May;143(5):683-694. doi: 10.1007/s00439-024-02669-y. Epub 2024 Apr 9. Hum Genet. 2024. PMID: 38592547 Free PMC article.
SODAR: managing multiomics study data and metadata.
Nieminen M, Stolpe O, Kuhring M, Weiner J, Pett P, Beule D, Holtgrewe M. Nieminen M, et al. Among authors: holtgrewe m. Gigascience. 2022 Dec 28;12:giad052. doi: 10.1093/gigascience/giad052. Epub 2023 Jul 27. Gigascience. 2022. PMID: 37498129 Free PMC article.
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM, Ludwig KU. Zieger HK, et al. Among authors: holtgrewe m. HGG Adv. 2022 Dec 5;4(1):100166. doi: 10.1016/j.xhgg.2022.100166. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36589413 Free PMC article.
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, Macario MDC, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Pavlovic A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Santos M, Guven G, Bilgic B, Bras J, Beule D, Dirnagl U, Guerreiro R, Sassi C. Foddis M, et al. Among authors: holtgrewe m. Neurobiol Aging. 2023 Mar;123:208-215. doi: 10.1016/j.neurobiolaging.2022.11.013. Epub 2022 Nov 26. Neurobiol Aging. 2023. PMID: 36586737
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S. Schöpflin R, et al. Among authors: holtgrewe m. Nat Commun. 2022 Oct 29;13(1):6470. doi: 10.1038/s41467-022-34053-7. Nat Commun. 2022. PMID: 36309531 Free PMC article.
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Seidel F, Laser KT, Klingel K, Dartsch J, Theisen S, Pickardt T, Holtgrewe M, Gärtner A, Berger F, Beule D, Milting H, Schubert S, Klaassen S, Kühnisch J. Seidel F, et al. Among authors: holtgrewe m. J Cardiovasc Dev Dis. 2022 Jul 5;9(7):216. doi: 10.3390/jcdd9070216. J Cardiovasc Dev Dis. 2022. PMID: 35877578 Free PMC article.
47 results