Stapel von Büchern mit bunten Einbänden

Publikationen

 

 Publikationsliste 

Erst- und Letztautorenschaften (EA/LA) 

  1. Karnstedt M, Perszyk R, et al., Lemke JR, Krey I. Memantine Treatment in Individuals with GRIN Gain-of-Function Variants is associated with Improvements in Behavior, Develop-ment and Seizure Frequency. Epilepsia. accepted 12/2025. JIF 6,6. [LA]
  2. Krey I, Lemke JR, von Spiczak S. Genetics and genetic diagnosis of focal childhood ep-ilepsy. Clin Epileptol. 2024;37(Suppl 3):120–122. [EA]
  3. Bosselmann C, Borggrafe I, Fazeli W, Klein KM, Kluger G, Muller-Schlüter K, Krey I. Genetic diagnostics in epilepsies: recommendations of the Commission Epilepsy and Genetics of German Society of Epileptology. Clin Epileptol. 2023;36:224–237. JIF 1,0. [LA]
  4. Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, et al. Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disord. 2022 Oct 1;24(5):765–786. JIF 2,3. [EA]
  5. Krey I, Johannesen KM, Kohnen O, Lemke JR. Genetic testing in adults with develop-mental and epileptic encephalopathy – what do we know? Medizinische Genetik. 2022;34(3):207–213. JIF 1,7. [EA]
  6. Krey I, Platzer K, Lemke JR. Monogenetic epilepsies and how to approach them in 2022. Medizinische Genetik. 2022;34(3):201–205. JIF 1,7. [EA]
  7. Krey I, von Spiczak S, Johannesen KM, et al. L-Serine Treatment is Associated with Im-provements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants. Neurotherapeutics. 2022 Jan;19(1):334–341. JIF 5,5. [EA]
  8. Neuser S*, Krey I*, Schwan A, et al. Prenatal phenotype of PNKP-related primary micro-cephaly associated with variants affecting both the FHA and phosphatase domain. Eur J Hum Genet. 2022 Jan;30(1):101–110. JIF 5,4. [geteilte EA]
  9. Krey I, Heine C, Frömming M, Herrmann J, Møller RS, Weckhuysen S, Courage C, Beblo S, Syrbe S, Lemke JR. The Angelman Syndrome Online Registry – A multilingual approach to support global research. Eur J Med Genet. 2021 Dec;64(12):104349. JIF 2,5. [EA]
  10. Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurle-mann G, Lemke JR. Genotype-phenotype correlation on 45 individuals with West syn-drome. Eur J Paediatr Neurol. 2020 Mar;25:134–138. (Dissertation, UKL). JIF 3,1. [EA] 

 

Co-Autorenschaften 

  1. Lemke JR, Eoli AM, Krey I, et al. GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy. 2025.
  2. Bayat A, Borroto MC, Salian S, et al. PIGC-related encephalopathy: Lessons learned from 18 new probands. 2025.
  3. Hildonen M, Ciolfi A, Ferilli M, et al. Biallelic loss-of-function variants in ZNF142 are associ-ated with a robust DNA methylation signature affecting a limited number of genomic loci. 2025.
  4. Gjerulfsen CE, Krey I, Klöckner C, et al. GRIN-associated disorders and NMDA receptor dysfunction studies. 2024.
  5. Kamand M, Taleb R, Wathikthinnakon M, et al. Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy. 2024.
  6. Karnstedt M, Krey I, Ahting S, Forstner A, et al. Neurogenetic disease studies involving GRIN variants. 2024.
  7. Rinaldi B, Bayat A, Zachariassen LG, et al. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. 2023.
  8. Johannesen KM, Liu Y, Koko M, et al. Genotype-phenotype correlations in SCN8A-re-lated disorders reveal prognostic and therapeutic implications. 2022.
  9. Ahring PK, Liao VWY, Gardella E, et al. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. 2021.
  10. Motelow JE, Povysil G, Dhindsa RS, et al. Sub-genic intolerance, ClinVar, and the epi-lepsies: A whole-exome sequencing study of 29,165 individuals. 2021.
  11. Benke TA, Park K, Krey I, et al. Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs. 2021.
  12. Zacher P, Bartolomaeus T, Le Duc D, et al. Clinical findings and diagnostic yield in a systematic genetic work-up of 150 individuals with epilepsy. Genet Med. 2021.
  13. Wengert ER, et al. Biallelic inherited SCN8A variants, a rare cause of developmental and epileptic encephalopathy. Epilepsia. 2019.
  14. Platzer K, Krey I, Lemke JR. GRIN2D-Related Developmental and Epileptic Encephalo-pathy. GeneReviews®. 2022.
  15. Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LHG, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016;79(3):428–436. doi:10.1002/ana.24580.
  16. Tecklenburg J, Meyer R, Krey I, Schlegelberger B. Career satisfaction of German human genetics residents. Med Genet. 2022;33(4):343–351. doi:10.1515/medgen-2021-2103.
  17. Manssen L, Krey I, Gburek-Augustat J, von Hagen C, Lemke JR, Merkenschlager A, et al. Precision Medicine in Angelman Syndrome. 2025.
  18. Elbracht M, Zweier C, Krey-Grauert I. Editorial – Patient perspectives on new therapies for genetic diseases. Med Genet. 2025;37(3):163–167. doi:10.1515/medgen-2025-2018.
  19. Zweier C, et al., Krey-Grauert I. Precision medicine. Med Genet. 2025.
  20. Epi25 Collaborative. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across epilepsy subtypes. Nat Neurosci. 2024;27(10):1864–1879.
  21. Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, et al. Spectrum of NMDA Recep-tor Variants in Neurodevelopmental Disorders. Methods Mol Biol. 2024;2799:1–11.
  22. Rinaldi B, Bayat A, Zachariassen LG, et al. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024;147(5):1837–1855.
  23. Montanucci L, et al., Krey I, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF. Ligand distances as key predictors of pathogenicity and functional effects for variants in NMDA receptor genes. 2025.
  24. Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castig-lioni C, Krey I, et al. Inferring disease course from differential exon usage in the wide titinopathy spectrum. Ann Clin Transl Neurol. 2024;11(10):2745–2755.
  25. Cuccurullo C, et al., Krey I, et al. Clinical features and genotype-phenotype correlations in GRIN1-related disorders. Epilepsia. 2024;65(9):2728–2750.
  26. Berger E, et al., Krey I, Kozenko M, Knierim E, et al. Upregulation versus loss of function of NTRK2 in 44 affected individuals. Genet Med. 2025.
  27. Hildonen M, Ferilli M, Krey I, Kohnen O, et al. Diagnosis of Angelman Syndrome, With 66 Years of Delay, in an Adult Woman. 2025.
  28. Lemke JR, Eoli AM, Krey I, Popp B, Strehlow V, Wittekind DA, et al. GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and poten-tially enable precision therapy. Mol Psychiatry. 2025/2026.
  29. Kamand M, Taleb R, Wathikthinnakon M, Mohamed FA, Ghazanfari SP, Konstantinov D, Hald JL, Holst B, Brasch-Andersen C, Møller RS, Lemke JR, Krey I, Freude K, Chandra-sekaran A. Generation of two patient specific GABRD variants and their isogenic con-trols for modeling epilepsy. Stem Cell Res. 2024;76:103372.
  30. Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet. 2021;108(6):965–982.
  31. Epi25 Collaborative. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Se-quencing Study of 17,606 Individuals. Am J Hum Genet. 2019;105(2):267–282.
  32. Leu C, et al., Krey I, et al. Polygenic burden in focal and generalized epilepsies. Brain. 2019.