Freyer C - Search Results

1

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D. Bramswig NC, et al. Among authors: freyer c. Hum Genet. 2017 Jul;136(7):821-834. doi: 10.1007/s00439-017-1795-6. Epub 2017 Apr 9. Hum Genet. 2017. PMID: 28393272

2

Return of individual results in epilepsy genomic research: A view from the field.

Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH; Epilepsy Return of Results Workshop Participants. Ottman R, et al. Among authors: freyer c. Epilepsia. 2018 Sep;59(9):1635-1642. doi: 10.1111/epi.14530. Epub 2018 Aug 10. Epilepsia. 2018. PMID: 30098010 Free PMC article.

3

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], et al. Am J Hum Genet. 2019 Aug 1;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327507 Free PMC article.

4

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], et al. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. Am J Hum Genet. 2021. PMID: 33932343 Free PMC article.

5

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Koko M, et al. Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15. Epilepsia. 2022. PMID: 35032048 Free PMC article.

6

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Lerche H, et al. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. N Engl J Med. 2019. PMID: 30995385 Free article. No abstract available.

7

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Niestroj LM, et al. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. Brain. 2020. PMID: 32568404 Free PMC article.

8

Diverse genetic causes of polymicrogyria with epilepsy.

Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Epilepsia. 2021. PMID: 33818783 Free PMC article.

9

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], et al. Am J Hum Genet. 2021 Oct 7;108(10):2024. doi: 10.1016/j.ajhg.2021.08.008. Am J Hum Genet. 2021. PMID: 34626584 Free PMC article. No abstract available.

10

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

122 results

Search Page

Filters