2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK,
Perez-Becker R,
Driessen GJ,
Abolhassani H,
van Montfrans J,
Borte S,
Choo S,
Wang N,
Tesselaar K,
Fang M,
Bienemann K,
Boztug K,
Daneva A,
Mechinaud F,
Wiesel T,
Becker C,
Dückers G,
Siepermann K,
van Zelm MC,
Rezaei N,
van der Burg M,
Aghamohammadi A,
Seidel MG,
Niehues T,
Hammarström L.
J Allergy Clin Immunol. 2015 Apr 2. pii: S0091-6749(15)00271-7. doi: 10.1016/j.jaci.2015.02.022.
2015
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas S,
Aytekin C,
Salzer E,
Conde CD,
Apaydin S,
Pichler H,
Memaran-Dadgar N,
Hosnut FO,
Förster-Waldl E,
Matthes S,
Huber WD,
Lion T,
Holter W,
Bilic I,
Boztug K.
Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.
2015
Epigenome Mapping Reveals Distinct Modes of Gene Regulation and Widespread Enhancer Reprogramming by the Oncogenic Fusion Protein EWS-FLI1.
Tomazou EM,
Sheffield NC,
Schmidl C,
Schuster M,
Schönegger A,
Datlinger P,
Kubicek S,
Bock C,
Kovar H.
Cell Rep. 2015 Feb 24;10(7):1082-95. doi: 10.1016/j.celrep.2015.01.042. Epub 2015 Feb 19.
2015
KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.
Malinowska-Ozdowy K,
Frech C,
Schönegger A,
Eckert C,
Cazzaniga G,
Stanulla M,
Zur Stadt U,
Mecklenbräuker A,
Schuster M,
Kneidinger D,
von Stackelberg A,
Locatelli F,
Schrappe M,
Horstmann MA,
Attarbaschi A,
Bock C,
Mann G,
Haas OA,
Panzer-Grümayer R.
Leukemia. 2015 Apr 28. doi: 10.1038/leu.2015.107.
2015
Single-cell DNA methylome sequencing and bioinformatic inference of epigenomic cell-state dynamics.
Farlik M,
Sheffield NC,
Nuzzo A,
Datlinger P,
Schönegger A,
Klughammer J,
Bock C.
Cell Rep. 2015 Mar 3;10(8):1386-97. doi: 10.1016/j.celrep.2015.02.001. Epub 2015 Feb 26.
2015
Improving reference epigenome catalogs by computational prediction.
Ebert P,
Bock C.
Nat Biotechnol. 2015 Apr;33(4):354-5. doi: 10.1038/nbt.3194.
2015
Dissecting the role of aberrant DNA methylation in human leukaemia.
Amabile G,
Di Ruscio A,
Müller F,
Welner RS,
Yang H,
Ebralidze AK,
Zhang H,
Levantini E,
Qi L,
Martinelli G,
Brummelkamp T,
Le Beau MM,
Figueroa ME,
Bock C,
Tenen DG.
Nat Commun. 2015 May 22;6:7091. doi: 10.1038/ncomms8091.
2015
ITK deficiency: How can EBV be treated before lymphoma? Pediatr Blood Cancer.
Cipe FE,
Aydogmus C,
Serwas NK,
Tu_cu D,
Demirkaya M,
Biçici FA,
Hocaoglu AB,
Do_u F,
Boztu_ K.
2015 Jul 14. doi: 10.1002/pbc.25648.
2015
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.
Ma CS,
Wong N,
Rao G,
Avery DT,
Torpy J,
Hambridge T,
Bustamante J,
Okada S,
Stoddard JL,
Deenick EK,
Pelham SJ,
Payne K,
Boisson-Dupuis S,
Puel A,
Kobayashi M,
Arkwright PD,
Kilic SS,
El Baghdadi J,
Nonoyama S,
Minegishi Y,
Mahdaviani SA,
Mansouri D,
Bousfiha A,
Blincoe AK,
French MA,
Hsu P,
Campbell DE,
Stormon MO,
Wong M,
Adelstein S,
Smart JM,
Fulcher DA,
Cook MC,
Phan TG,
Stepensky P,
Boztug K,
Kansu A,
_kincio_ullari A,
Baumann U,
Beier R,
Roscioli T,
Ziegler JB,
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Picard C,
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Uzel G,
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J Allergy Clin Immunol. 2015 Jul 7. pii: S0091-6749(15)00787-3. doi: 10.1016/j.jaci.2015.05.036.
2015
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.
Erman B,
Bilic I,
Hirschmugl T,
Salzer E,
Çagdas D,
Esenboga S,
Akcoren Z,
Sanal O,
Tezcan I,
Boztug K.
Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13.
