Publications
2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM,
Chandra Ardy R,
Kuloğlu Z,
Härter B,
van Haaften-Visser DY,
van der Doef HPJ,
van Hoesel M,
Kansu A,
van Vugt AHM,
Ng M,
Kokke FTM,
Krolo A,
Başaran MK,
Kaya NG,
Aksu AÜ,
Dalgıç B,
Ozcay F,
Baris Z,
Kain R,
Stigter ECA,
Lichtenbelt KD,
Massink MPG,
Duran KJ,
Verheij JBGM,
Lugtenberg D,
Nikkels PGJ,
Brouwer HGF,
Verkade HJ,
Scheenstra R,
Spee B,
Nieuwenhuis EES,
Coffer PJ,
Janecke AR,
van Haaften G,
Houwen RHJ,
Müller T,
Middendorp S,
Boztug K.
Gastroenterology. 2018 Mar 29. pii: S0016-5085(18)30347-0. doi: 10.1053/j.gastro.2018.03.040. [Epub ahead of print]
2018
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
Cipe FE,
Aydogmus C,
Serwas NK,
Keskindemirci G,
Boztuğ K.
J Clin Immunol. 2018 Apr;38(3):273-277. doi: 10.1007/s10875-018-0487-x. Epub 2018 Mar 21.
2018
Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.
Hoeger B,
Serwas NK,
Boztug K.
Front Immunol. 2018 Jan 18;8:1978. doi: 10.3389/fimmu.2017.01978. eCollection 2017. Review.
2018
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M,
Salzer E,
Simonitsch-Klupp I,
Rath J,
Wagner M,
Haack TB,
Strom TM,
Schänzer A,
Kilimann MW,
Schmidt RLJ,
Schmetterer KG,
Zimprich A,
Boztug K,
Hahn A,
Zimprich F.
J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.
2017
Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.
Erman B,
Bilic I,
Hirschmugl T,
Salzer E,
Boztug H,
Sanal Ö,
Çağdaş Ayvaz D,
Tezcan I,
Boztug K.
Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523.
2017
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.
Fazel A,
Kashef S,
Aleyasin S,
Harsini S,
Karamizadeh Z,
Zoghi S,
Flores SK,
Boztug K,
Rezaei N.
Allergol Immunopathol (Madr). 2017 Jan - Feb;45(1):82-86. doi: 10.1016/j.aller.2016.08.005. Epub 2016 Oct 24.
2017
Band 3 nullVIENNA , a novel homozygous SLC4A1 p.
Kager L,
Bruce LJ,
Zeitlhofer P,
Flatt JF,
Maia TM,
Ribeiro ML,
Fahrner B,
Fritsch G,
Boztug K,
Haas OA.
Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.
2017
Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C,
Sahoo SS,
Rizzi M,
Hirabayashi S,
Karow A,
Serwas NK,
Hoemberg M,
Damatova N,
Schindler D,
Vannier JB,
Boulton SJ,
Pannicke U,
Göhring G,
Thomay K,
Verdu-Amoros JJ,
Hauch H,
Woessmann W,
Escherich G,
Laack E,
Rindle L,
Seidl M,
Rensing-Ehl A,
Lausch E,
Jandrasits C,
Strahm B,
Schwarz K,
Ehl SR,
Niemeyer C,
Boztug K,
Wlodarski MW.
Front Immunol. 2017 Oct 2;8:1250. doi: 10.3389/fimmu.2017.01250. eCollection 2017.
2017
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Müller H,
Jimenez-Heredia R,
Krolo A,
Hirschmugl T,
Dmytrus J,
Boztug K,
Bock C.
Filter: interactive prioritization of disease-linked genetic variants from sequencing data. Nucleic Acids Res. 2017 May 17. doi: 10.1093/nar/gkx425. [Epub ahead of print]
2017
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
Ozen A,
Comrie WA,
Ardy RC,
Domínguez Conde C,
Dalgic B,
Beser ÖF,
Morawski AR,
Karakoc-Aydiner E,
Tutar E,
Baris S,
Ozcay F,
Serwas NK,
Zhang Y,
Matthews HF,
Pittaluga S,
Folio LR,
Unlusoy Aksu A,
McElwee JJ,
Krolo A,
Kiykim A,
Baris Z,
Gulsan M,
Ogulur I,
Snapper SB,
Houwen RHJ,
Leavis HL,
Ertem D,
Kain R,
Sari S,
Erkan T,
Su HC,
Boztug K,
Lenardo MJ.
N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.
