1. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. PMID: 29549173 Clinical Trial.
2. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. PMID: 30334577 Clinical Trial.
3. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. PMID: 30213831 Free PMC article. No abstract available.
4. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. PMID: 32043619
5. Sickle cell disease in Germany: Results from a national registry. Kunz JB, Lobitz S, Grosse R, Oevermann L, Hakimeh D, Jarisch A, Cario H, Beier R, Schenk D, Schneider D, Groß-Wieltsch U, Prokop A, Heine S, Khurana C, Erlacher M, Dürken M, Linke C, Frühwald M, Corbacioglu S, Claviez A, Metzler M, Ebinger M, Full H, Wiesel T, Eberl W, Reinhard H, Tagliaferri L, Allard P, Karapanagiotou-Schenkel I, Rother LM, Beck D, Le Cornet L, Kulozik AE; German Sickle Cell Disease Registry. Pediatr Blood Cancer. 2020 Apr;67(4):e28130. doi: 10.1002/pbc.28130. Epub 2019 Dec 22. PMID: 31867835
6. Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hübschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE. Clin Immunol. 2017 Feb;175:51-55. doi: 10.1016/j.clim.2016.11.016. Epub 2016 Dec 2. PMID: 27916705
7. The epidemiology of sickle cell disease in Germany following recent large-scale immigration. Kunz JB, Cario H, Grosse R, Jarisch A, Lobitz S, Kulozik AE. Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26550. Epub 2017 Apr 6. PMID: 28383793
8. Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening. Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE. Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12. PMID: 26658910