Meyer R - Search Results

1

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.

Knopp C, Steiner R, Lausberg E, Hoegen CV, Busse S, Meyer R, Eggermann K, Schüler H, Begemann M, Eggermann T, Kurth I, Schulz JB, Elbracht M, Maier A. Knopp C, et al. Among authors: meyer r. Dtsch Arztebl Int. 2022 Dec 27;119(51-52):895-896. doi: 10.3238/arztebl.m2022.0312. Dtsch Arztebl Int. 2022. PMID: 36892325 Free PMC article. No abstract available.

2

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Meyer R, et al. J Pediatr. 2017 Aug;187:206-212.e1. doi: 10.1016/j.jpeds.2017.04.018. Epub 2017 May 19. J Pediatr. 2017. PMID: 28529015

3

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Elbracht M, Meyer R, Eggermann T, Kurth I. Elbracht M, et al. Among authors: meyer r. Internist (Berl). 2018 Aug;59(8):756-765. doi: 10.1007/s00108-018-0457-7. Internist (Berl). 2018. PMID: 29946883 Review. German.

4

Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.

Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T. Neuheuser L, et al. Among authors: meyer r. Mol Cell Probes. 2019 Apr;44:1-7. doi: 10.1016/j.mcp.2018.12.007. Epub 2019 Jan 2. Mol Cell Probes. 2019. PMID: 30610903

5

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.

Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T. Hübner CT, et al. Among authors: meyer r. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa273. doi: 10.1210/clinem/dgaa273. J Clin Endocrinol Metab. 2020. PMID: 32421827

6

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Meyer R, et al. Clin Genet. 2020 Oct;98(4):408-412. doi: 10.1111/cge.13819. Epub 2020 Aug 19. Clin Genet. 2020. PMID: 32720325

7

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Hedberg-Oldfors C, et al. Among authors: meyer r. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. Brain. 2020. PMID: 32779703 Free PMC article.

8

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.

Meyer R, Elbracht M, Opladen T, Eggermann T. Meyer R, et al. Am J Med Genet A. 2020 Nov;182(11):2727-2730. doi: 10.1002/ajmg.a.61833. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32857899

9

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: meyer r. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.

10

Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.

Elbracht M, Meyer R, Kricheldorf K, Gezer D, Eggermann T, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S. Elbracht M, et al. Among authors: meyer r. Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811. Blood Adv. 2021. PMID: 34477817 Free PMC article.

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