Search Page

1

Cite

Share

F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis.

Jamil MA, Sharma A, Nuesgen N, Pezeshkpoor B, Heimbach A, Pavlova A, Oldenburg J, El-Maarri O. Jamil MA, et al. Among authors: heimbach a. Front Genet. 2019 May 29;10:508. doi: 10.3389/fgene.2019.00508. eCollection 2019. Front Genet. 2019. PMID: 31191618 Free PMC article.

Cite

Share

2

Cite

Share

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M, Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R. Harter P, et al. Among authors: heimbach a. PLoS One. 2017 Oct 20;12(10):e0186043. doi: 10.1371/journal.pone.0186043. eCollection 2017. PLoS One. 2017. PMID: 29053726 Free PMC article.

Cite

Share

3

Cite

Share

Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.

Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP. Domingues FS, et al. Among authors: heimbach a. Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23. Seizure. 2019. PMID: 30818181 Free article.

Cite

Share

4

Cite

Share

The severity of human peri-implantitis lesions correlates with the level of submucosal microbial dysbiosis.

Kröger A, Hülsmann C, Fickl S, Spinell T, Hüttig F, Kaufmann F, Heimbach A, Hoffmann P, Enkling N, Renvert S, Schwarz F, Demmer RT, Papapanou PN, Jepsen S, Kebschull M. Kröger A, et al. Among authors: heimbach a. J Clin Periodontol. 2018 Dec;45(12):1498-1509. doi: 10.1111/jcpe.13023. Epub 2018 Nov 19. J Clin Periodontol. 2018. PMID: 30341964

Cite

Share

5

Cite

Share

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).

Brockschmidt A, Chung B, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG. Brockschmidt A, et al. Among authors: heimbach a. Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6. Nephrol Dial Transplant. 2012. PMID: 22146311 Free article.

Cite

Share

6

Cite

Share

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).

Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P. Hauke J, et al. Among authors: heimbach a. J Med Genet. 2019 Sep;56(9):574-580. doi: 10.1136/jmedgenet-2018-105930. Epub 2019 Apr 12. J Med Genet. 2019. PMID: 30979843

Cite

Share

7

Cite

Share

Multi-omics signatures of alcohol use disorder in the dorsal and ventral striatum.

Zillich L, Poisel E, Frank J, Foo JC, Friske MM, Streit F, Sirignano L, Heilmann-Heimbach S, Heimbach A, Hoffmann P, Degenhardt F, Hansson AC, Bakalkin G, Nöthen MM, Rietschel M, Spanagel R, Witt SH. Zillich L, et al. Among authors: heimbach a. Transl Psychiatry. 2022 May 6;12(1):190. doi: 10.1038/s41398-022-01959-1. Transl Psychiatry. 2022. PMID: 35523767 Free PMC article.

Cite

Share

8

Cite

Share

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM. Park JS, et al. Among authors: heimbach a. Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21542062

Cite

Share

9

Cite

Share

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Ramirez A, et al. Among authors: heimbach a. Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964263

Cite

Share

10

Cite

Share

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke J, Harter P, Ernst C, Burges A, Schmidt S, Reuss A, Borde J, De Gregorio N, Dietrich D, El-Balat A, Kayali M, Gevensleben H, Hilpert F, Altmüller J, Heimbach A, Meier W, Schoemig-Markiefka B, Thiele H, Kimmig R, Nürnberg P, Kast K, Richters L, Sehouli J, Schmutzler RK, Hahnen E. Hauke J, et al. Among authors: heimbach a. J Med Genet. 2022 Mar;59(3):248-252. doi: 10.1136/jmedgenet-2020-107353. Epub 2020 Dec 3. J Med Genet. 2022. PMID: 33273034 Free PMC article.

Cite

Share