Strom T - Search Results

1

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W. Umair M, et al. Among authors: strom t. Clin Genet. 2018 Apr;93(4):913-918. doi: 10.1111/cge.13179. Epub 2018 Feb 20. Clin Genet. 2018. PMID: 29136277

2

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: strom tm. Eur J Hum Genet. 2017 Aug;25(8):960-965. doi: 10.1038/ejhg.2017.83. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488682 Free PMC article.

3

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W. Umair M, et al. Among authors: strom tm. J Genet. 2017 Dec;96(6):1005-1014. doi: 10.1007/s12041-017-0868-6. J Genet. 2017. PMID: 29321360 Free article.

4

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: strom tm. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.

5

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: strom tm. Pediatr Res. 2017 Nov;82(5):753-758. doi: 10.1038/pr.2017.149. Epub 2017 Jul 26. Pediatr Res. 2017. PMID: 28665926

6

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W. Ullah A, et al. Among authors: strom tm. Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017. Mol Vis. 2017. PMID: 28761321 Free PMC article.

7

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom TM, Meitinger T, Zimprich F. Krenn M, et al. Among authors: strom tm. J Med Genet. 2020 Sep;57(9):624-633. doi: 10.1136/jmedgenet-2019-106658. Epub 2020 Feb 21. J Med Genet. 2020. PMID: 32086284

8

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: strom tm. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735

9

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger T, Erdmann J, Schunkert H. Brænne I, et al. Among authors: strom t. Eur J Hum Genet. 2016 Feb;24(2):191-7. doi: 10.1038/ejhg.2015.100. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036859 Free PMC article.

10

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. Among authors: strom tm. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020

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