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Year Number of Results
2015 1
2016 1
2017 2
2018 3
2019 3
2020 2
2021 2
2022 0
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Page 1
The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity.
Digomann D, Kurth I, Tyutyunnykova A, Chen O, Löck S, Gorodetska I, Peitzsch C, Skvortsova II, Negro G, Aschenbrenner B, Eisenhofer G, Richter S, Heiden S, Porrmann J, Klink B, Schwager C, Dowle AA, Hein L, Kunz-Schughart LA, Abdollahi A, Lohaus F, Krause M, Baumann M, Linge A, Dubrovska A. Digomann D, et al. Among authors: porrmann j. Clin Cancer Res. 2019 May 15;25(10):3152-3163. doi: 10.1158/1078-0432.CCR-18-2951. Epub 2019 Jan 22. Clin Cancer Res. 2019. PMID: 30670494 Free article.
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: porrmann j. PLoS One. 2020 Sep 24;15(9):e0239959. doi: 10.1371/journal.pone.0239959. eCollection 2020. PLoS One. 2020. PMID: 32970766 Free PMC article.
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: porrmann j. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Burns W, et al. Among authors: porrmann j. Am J Med Genet A. 2021 Oct;185(10):2863-2872. doi: 10.1002/ajmg.a.62359. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050707
Pierpont syndrome: report of a new patient.
Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A. Kahlert AK, et al. Among authors: porrmann j. Clin Dysmorphol. 2017 Oct;26(4):205-208. doi: 10.1097/MCD.0000000000000184. Clin Dysmorphol. 2017. PMID: 28562391
Novel truncating PPM1D mutation in a patient with intellectual disability.
Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Porrmann J, et al. Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11. Eur J Med Genet. 2019. PMID: 29758292
Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.
Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A. Lenk J, et al. Among authors: porrmann j. Ophthalmic Genet. 2018 Oct;39(5):645-647. doi: 10.1080/13816810.2018.1502792. Epub 2018 Jul 30. Ophthalmic Genet. 2018. PMID: 30058938
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Among authors: porrmann j. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article.
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B. Zakrzewski F, et al. Among authors: porrmann j. BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6. BMC Cancer. 2019. PMID: 31029168 Free PMC article.
12 results