Wienker TF - Search Results

1

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. Bainbridge MN, et al. Among authors: wienker tf. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013. Genome Med. 2013. PMID: 23383720 Free PMC article.

2

Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

Ropers HH, Wienker T. Ropers HH, et al. Eur J Med Genet. 2015 Dec;58(12):715-8. doi: 10.1016/j.ejmg.2015.10.007. Epub 2015 Oct 24. Eur J Med Genet. 2015. PMID: 26506440

3

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, Ropers HH, Kahrizi K, Najmabadi H. Oladnabi M, et al. Arch Iran Med. 2015 Mar;18(3):179-84. Arch Iran Med. 2015. PMID: 25773692

4

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

Hu H, Wienker TF, Musante L, Kalscheuer VM, Kahrizi K, Najmabadi H, Ropers HH. Hu H, et al. Among authors: wienker tf. Hum Mutat. 2014 Dec;35(12):1427-35. doi: 10.1002/humu.22695. Hum Mutat. 2014. PMID: 25219469

5

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K. Jazayeri R, et al. Among authors: wienker tf. Arch Iran Med. 2015 Oct;18(10):670-82. Arch Iran Med. 2015. PMID: 26443249

6

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H. Davarniya B, et al. Among authors: wienker tf. PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015. PLoS One. 2015. PMID: 26308914 Free PMC article.

7

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM. von der Hagen M, et al. Among authors: wienker tf. Neuropediatrics. 2020 Feb;51(1):72-75. doi: 10.1055/s-0039-1695787. Epub 2019 Oct 18. Neuropediatrics. 2020. PMID: 31627234

8

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M. Hu H, et al. Among authors: wienker tf. Eur J Hum Genet. 2017 Feb;25(2):253-256. doi: 10.1038/ejhg.2016.149. Epub 2016 Nov 9. Eur J Hum Genet. 2017. PMID: 27827379 Free PMC article.

9

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Hu H, Suckow V, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hübner C, Wienker TF, Kaindl AM. Hu H, et al. Among authors: wienker tf. Cell Cycle. 2014;13(10):1650-1. doi: 10.4161/cc.28706. Epub 2014 Apr 1. Cell Cycle. 2014. PMID: 24691052 Free PMC article. No abstract available.

10

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM. Hu H, et al. Among authors: wienker tf. Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3. Ann Clin Transl Neurol. 2014. PMID: 25574476 Free PMC article.

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