Table of Contents

Selected Publications (10 out of 49):

Wirtenberger M, Hemminki K and Burwinkel B.
Identification of frequent chromosome copy number polymorphisms using high-resolution SNP arrays.
Am. J. Hum. Genet., in press

Burwinkel B, Scott JW, Bührer C, van Landeghem FKH, Cox GF, Wilson C, Hardie DG, Kilimann MW.
Fetal-onset, fatal non-lysosomal heart glycogenosis is caused by a recurrent activating R531Q mutation in the 2 subunit of AMP-activated protein kinase.
Am. J. Hum. Genet., 2005 76:1034-49 (2005)

Frank B, Klaes R, Burwinkel B
Association of ARLTS1 Trp149Stop with an increased breast cancer risk in high-risk breast cancer families.
N Eng J Med., 353:313-314 (2005)

Frank B, Lorenzo Bermejo J, Hemminki K, Klaes R, Bugert P, Wappenschmidt B, Schmutzler RK and Burwinkel B.
RE: Caspase-8 variant D302H and breast cancer risk
J. Nat. Cancer Inst., 97:1012 (2005)

Burwinkel B, Bakker HD, Moses SW, Shin YS, Kilimann MW.
Mutations in the liver phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers’ disease).
Am. J. Hum. Genet. 62 (4): 785-791. (1998)

Burwinkel B & Kilimann MW.
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
J. Mol. Biol., 277: 513-517 (1998)

Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with a higher cirrhosis risk.
Hum. Mol. Genetics 7: 149-154 (1998)

Burwinkel B, Maichele AJ, Oystein A, Bakker HD, Lerner A, Shin YS, Strachan JA, MW Kilimann.
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase b subunit (PHKB).
Hum. Mol. Genetics 6: 1109-1115 (1997).

Maichele AJ*, Burwinkel B*, Maire I, Sövik O, Kilimann MW.
Mutations in the testis/liver isoform of the phosphorylase kinase g subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Nature Genetics 14: 337-340 (1996)

* A.J. Maichele and B. Burwinkel contribute equally to this work.

Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW.
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Hum. Mol. Genetics 5: 653-658 (1996)

Complete list of publications:

2006

49. Wirtenberger M, Frank B, Hemminki, K, Klaes R, Schmutzler R K, Wappenschmidt B, Meindl, A, Arnold N, Weber B, Niederacher D, Bartram C R and Burwinkel B.
Interaction of Werner and Bloom syndrome genes with TP53 in familial breast cancer.
Carcinogenesis, in press

48. Wirtenberger M, Hemminki K and Burwinkel B.
Identification of frequent chromosome copy number polymorphisms using high-resolution SNP arrays.
Am. J. Hum. Genet., in press

47. Frank B, Hemminki K, Wappenschmidt B, Meindl A, Klaes R, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B.
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.
Carcinogenesis, in press

46. Frank B, Hemminki K, Wappenschmidt B, Meindl A, Klaes R, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B.
A variable number of tandem repeats polymorphism in the SMYD3 promotor region and the risk of familial breast cancer.
Int J Cancer, in press

45. Frank B, Meyer P, Boettger MB, Hemmiki K, Stapelmann H, Gast A, Schmitt C, Kumar R, Sergi C and Burwinkel B.
ARLTS1 variants and melanoma risk
Int. J. Cancer, in press

44. Frank B, Hemminki K, Brenner H, Hoffmeister M, Chang-Claude J and Burwinkel B.
ARLTS1 variants and risk of colorectal cancer.
Cancer Lett, in press

43. Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B and Klaes R.
Partial trisomy 8q in a 43 year old male with moderate intellectual disability, epilepsy and large cell non-Hodgkin's lymphoma.
Am J Med Genet, in press

42. Li Y, Fisher E, Klapper M, Boeing H, Pfeiffer A, Hampe J, Schreiber S, Burwinkel B, Schrezenmeir J and Döring F.
Association between functional FABP2 promoter haplotype and Type 2 Diabetes.
Horm Metab Res, in press

41. Fisher E, Li Y, Burwinkel B, Vera Kühr, Kurt Hoffmann, Möhlig M, Spranger J, Pfeiffer A, Boeing H, Schrezenmeir J and Döring F.
Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of type 2 diabetes and obesity in women from a German cohort.
Horm Metab Res, in press

40. Vaclavicek A, Hemminki K, Bartram CR, Wagner K, Wappenschmidt B, Meindl A, Schmutzler RK, Klaes R, Untch M, Burwinkel B, Forsti A.
Assiciation of prolactin and its receptor gene regions with familial breast cancer.
J Clin End Met 2005, in press

39. Wilkening S, Bermejo JL, Burwinkel B, Klaes R, Bartram CR, Meindl A, Bugert P, Schmutzler RK, Wappenschmidt B, Untch M, Hemminki K, Forsti A.
The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer.
Cancer Res. 66:646-8 (2006).

38. Frank, B., Hemminki, K., Meindl, A., Schmutzler, R.K., Klaes, R., Wappenschmidt, B., Untch, M., Bugert P., Bartram, C.R. and Burwinkel, B.
Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk.
Int J Cancer, in press

37. Frank B, Hemminki K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Klaes R, Bartram CR and Burwinkel B.
Association of the CASP10 V410I variant with familial breast cancer risk and interaction with the CASP8 D302H variant.
Carcinogenesis 27: 606-609 (2006)

36. Wirtenberger M, Tchatchou S, Hemminki K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Klaes R, Bartram CR and Burwinkel B.
Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.
Carcinogenesis, 27:593-598 (2006).

2005

35. Burwinkel B, Scott JW, Bührer C, van Landeghem FKH, Cox GF, Wilson C, Hardie DG, Kilimann MW.
Fetal-onset, fatal non-lysosomal heart glycogenosis is caused by a recurrent activating R531Q mutation in the 2 subunit of AMP-activated protein kinase.
Am. J. Hum. Genet., 76:1034-49 (2005).

34. Burwinkel B*, Wirtenberger M*, Klaes R, Grzybowska E, Butkiewicz D, Pamula J, Pekala W, Zientek H, Mielzynska D, Siwinska E, Schmutzler R, Wappenschmidt B, Bugert P, Frank B, Lorenzo J, Bartram CR and Hemminki K
Association of NCOA3 (AIB1) polymorphisms with breast cancer risk.
Clin. Cancer Research 11:2169-74 (2005)

* Burwinkel B and Wirtenberger M contributed equally to this work.

33. Frank B, Lorenzo Bermejo J, Hemminki K, Klaes R, Bugert P, Wappenschmidt B, Schmutzler RK and Burwinkel B.
RE: Caspase-8 variant D302H and breast cancer risk
J. Nat. Cancer Inst., 97:1012 (2005)

32. Frank B, Hemminki K, Wirtenberger M, Lorenzo Bermejo J, Bugert P, Klaes R, Schmutzler RK, Wappenschmidt B, Bartram CR and Burwinkel B (2005)
The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.
Carcinogenesis 26: 643-7 (2005)

31. Frank B, Klaes R, Burwinkel B
Association of ARLTS1 Trp149Stop with an increased breast cancer risk in high-risk breast cancer families.
N Eng J Med., 353:313-314 (2005)

30. Wirtenberger M, Klaes R, Grzybowska E, Butkiewicz D, Pamula J, Pekala W, Zientek H, Mielzynska D, Siwinska E, Schmutzler R, Wappenschmidt B, Bugert P, Frank B, Lorenzo J, Bartram CR, Hemminki K and Burwinkel B.
cMYC polymorphism associated with increased familiar breast cancer.
Int. J Cancer,117:638-642 (2005)

29. Wilkening S, Burwinkel B, Grzybowska E, Klaes R, Pamula J, Pekala W, Zientek H, Hemminki K and Foersti A
Polyglutamine repeat length in the NCOA3 gene does not affect risk in familial breast cancer.
Cancer Epidemiol Biomarkers Prev. 14: 291-2 (2005).

28. Wirtenberger M, Hemminki K, Chen B and Burwinkel B.
SNP microarray analysis for the genome wide detection of crossover regions.
Hum Genetics, 117:389-397 (2005)


27. Frank B., Hemminiki K. and Burwinkel B.
A bias in genotyping ERBB2 (HER2) Ile655Val variant.
Carcinogenesis, 26: 1649 (2005)

26. Frank B, Hemminki K, Klaes K, Bugert P, Wappenschmidt B, Schmutzler RK, Bartram CR and Burwinkel B.
53BP1 polymorphisms and familial breast cancer risk.
Breast Cancer Research, 7:R502-505 (2005)

25. Tiemann C, Bührer C, Burwinkel B, Höhn T, Hübner C, van Landeghem, FKH, Stoltenburg G and Obladen M.
Lethal arthrogryposis multiplex with deafness and inguinal hernias: A family report of a probably autosomal recessive trait.
Am J Med Genet.,137:125-129 (2005)

24. Kumar TR, Gast A, Flohr T, Burwinkel B, Bartram CR, Hemminki K and Kumar R.
MTHFR genetic polymorphism and susceptibility to childhood acute lymphoblast leukaemia.
Blood, 106:2591-2592 (2005)


23. Frank B, Hemminki K, Shanmugam K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Klaes R, Bartram CR and Burwinkel B
Death receptor 4 haplotype 626C-683C is associated with an increased breast cancer risk.
Carcinogenesis, 26:1975-1977 (2005).

22. Nitz I, Döring F, Schrezenmeir J, Burwinkel B.
Identification and characterisation of new ACBP splice variants.
Int J Biochem Cell Biol., 37:2395-2405 (2005)

21. Frank B, Hemminki K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Klaes R, Bartram CR and Burwinkel B.
Association of the CASP10 V410I variant with familial breast cancer risk and interaction with the CASP8 D302H variant.
Carcinogenesis Oct 26 [Epub] (2005)

20. Wirtenberger M, Tchatchou S, Hemminki K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Klaes R, Bartram CR and Burwinkel B.
Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.
Carcinogenesis Oct 18 [Epub] (2005)

19. Frank, B., Hemminki, K., Meindl, A., Schmutzler, R.K., Klaes, R., Wappenschmidt, B., Untch, M., Bugert P., Bartram, C.R. and Burwinkel, B.
Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk.
Int J Cancer, Dec 13. [Epub ahead of print]

18. Frank B, Hemminki K, Wappenschmidt B, Meindl A, Klaes R, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B.
A variable number of tandem repeats polymorphism in the SMYD3 promotor region and the risk of familial breast cancer.
Int J Cancer 2005, In press

1996-2003

17. Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW.
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Hum. Mol. Genetics 5: 653-658 (1996).

16. Maichele AJ*, Burwinkel B*, Maire I, Sövik O, Kilimann MW.
Mutations in the testis/liver isoform of the phosphorylase kinase g subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Nature Genetics 14: 337-340 (1996).

* A.J. Maichele and B. Burwinkel contribute equally to this work.

15. Burwinkel B, Maichele AJ, Oystein A, Bakker HD, Lerner A, Shin YS, Strachan JA, MW Kilimann.
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase b subunit (PHKB).
Hum. Mol. Genetics 6: 1109-1115 (1997).

14. Burwinkel B, Moses SW, Kilimann MW.
Phoshorylase kinase deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the b subunit gene (PHKB).
Hum. Genetics 101: 170-174. (1997)

13. Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with a higher cirrhosis risk.
Hum. Mol. Genetics 7: 149-154 (1998).

12. Vorgerd, B. Burwinkel, H. Reichmann, J.-P. Malin & Kilimann MW
Adult onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Neurogenetics 1: 205-211 (1998).

11. Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin PJ, Kilimann MW.
Mutation analysis in myophosphorylase deficiency (McArdle`s disease).
Ann. Neurol. 43: 326-331 (1998).

10. Burwinkel B & Kilimann MW.
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
J. Mol. Biol., 277: 513-517 (1998)

9. Burwinkel B, Gray RGF, Muroya K, Narisava K, Sokol RJ, Vilaseca MA, Kilimann MW .
Variability of clinical and biochemical phenotype in X-linked liver glycogenosis with mutations in the PHKA2 gene.
Hum. Genetics 102: 423-429 (1998).

8. Burwinkel B, Bakker HD, Moses SW, Shin YS, Kilimann MW.
Mutations in the liver phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers’ disease).
Am. J. Hum. Genet. 62 (4): 785-791. (1998)

7. Burwinkel B, Miglierini G, Jenne DE, Gilbert DJ, Copeland NG, Jenkins N, Ring H, Francke U, Kilimann MW.
Structure of the human paralemmin gene (PALM), chromosomal mapping in mouse and man, and exclusion of mutations in candidate mouse strains grizzled, mocha, jittery and hesitant mice.
Genomics, 49: 462-466 (1998).

6. Burwinkel B, Sanjad SA, Kilimann MW.
Mutation in GLUT2, not phosphorylase kinase, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Hum. Genet. 105: 240-243. (1999)

5. Burwinkel B, Kreuder J, Schweizer S, Vorgerd M, Gempel K, Gerbitz K-D, Kilimann MW .
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln Mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
Biochemical and Biophysical Research Communications 261: 484-487 (1999)

4. Burwinkel B, Tanner MS, Kilimann MW (2000)
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R).
J. Med. Genet. 37: 376-377. (2000)

3. Grant SFA, Steinlicht S, Nentwich U, Kern R, Burwinkel B, Tolle R.
SNP genotyping on genome wide amplified DOP-PCR template.
Nucleic Acids Res. 30(22):125. (2002)

2. Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW (2003)
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Eur J Hum Genet. Jul; 11: 516-26.

1. Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations
in the PHKG2 gene.
Pediatr Res. Dec; 54: 834-9 (2003)