Holinski-Feder E - Search Results

1

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. Dharmadhikari AV, et al. BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z. BMC Med Genet. 2014. PMID: 25472632 Free PMC article.

2

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Morak M, et al. J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. J Med Genet. 2011. PMID: 21712435 Free article.

3

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.

Wendlandt M, Erdmann H, Rost S, Lucas MC, Becker K, Kleinle S, Timmer M, Bier A, Wunderlich G, Wenninger S, Walter MC, Neuhann T, Schoser B, Holinski-Feder E, Abicht A. Wendlandt M, et al. Among authors: holinski feder e. Neurol Genet. 2024 Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220. eCollection 2025 Feb. Neurol Genet. 2024. PMID: 39703464 Free PMC article.

4

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MacMillan A, Holden JJ, Gecz J, Stevenson RE, Schwartz CE. Stepp ML, et al. BMC Med Genet. 2005 Apr 25;6:16. doi: 10.1186/1471-2350-6-16. BMC Med Genet. 2005. PMID: 15850492 Free PMC article.

5

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E. Grabowski M, et al. Genet Test. 2005 Summer;9(2):138-46. doi: 10.1089/gte.2005.9.138. Genet Test. 2005. PMID: 15943554

6

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S. Spier I, et al. J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27. J Med Genet. 2016. PMID: 26613750

7

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E. Dominguez-Valentin M, et al. BMC Med Genet. 2018 Feb 20;19(1):26. doi: 10.1186/s12881-018-0533-9. BMC Med Genet. 2018. PMID: 29458332 Free PMC article.

8

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Scharf F, Leal Silva RM, Morak M, Hastie A, Pickl JMA, Sendelbach K, Gebhard C, Locher M, Laner A, Steinke-Lange V, Koehler U, Holinski-Feder E, Wolf DA. Scharf F, et al. J Med Genet. 2022 Oct;59(10):976-983. doi: 10.1136/jmedgenet-2021-108147. Epub 2021 Dec 14. J Med Genet. 2022. PMID: 34911816 Free PMC article.

9

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Schwenk V, Leal Silva RM, Scharf F, Knaust K, Wendlandt M, Häusser T, Pickl JMA, Steinke-Lange V, Laner A, Morak M, Holinski-Feder E, Wolf DA. Schwenk V, et al. J Med Genet. 2023 Aug;60(8):747-759. doi: 10.1136/jmg-2022-108931. Epub 2023 Jan 2. J Med Genet. 2023. PMID: 36593122 Free PMC article.

10

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.

Henkel J, Laner A, Locher M, Wohlfrom T, Neitzel B, Becker K, Neuhann T, Abicht A, Steinke-Lange V, Holinski-Feder E. Henkel J, et al. Eur J Hum Genet. 2023 Aug;31(8):925-930. doi: 10.1038/s41431-023-01380-2. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188824 Free PMC article.

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