Selected Publications

Clinical management of the uraemic syndrome in chronic kidney disease.

Lancet Diabetes Endocrinol. 2016 Apr;4(4):360-73.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Nat Genet. 2017 Jan 9.

The double challenge of resistant hypertension and chronic kidney disease.

Lancet. 2015 Oct 17;386(10003):1588-98.

Impaired autophagy induces chronic atrophic pancreatitis in mice via sex- and nutrition-dependent processes.

Gastroenterology. 2015 Mar;148(3):626-638.e17.

Microenvironmental hCAP-18/LL-37 promotes pancreatic ductal adenocarcinoma by activating its cancer stem cell compartment.

Gut. 2015 Dec;64(12):1921-35.

Distinct and combinatorial functions of Jmjd2b/Kdm4b and Jmjd2c/Kdm4c in mouse embryonic stem cell identity.

Mol Cell. 2014 Jan 9;53(1):32-48.

The double challenge of resistant hypertension and chronic kidney disease.

Lancet. 2015 Oct 17;386(10003):1588-98.

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Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells

Nature Communications 6, January 2015 Article number: 6025 (2015)

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

Am J Hum Genet. 2015 Apr 2;96(4):612-22.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Neurology. 2016 Jul 5;87(1):77-85.

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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Nat Commun. 2015 Jun 5;6:7074.

12
Effects of Serum Uric Acid on Estimated GFR in Cardiac Surgery Patients: A Pilot Study.

Am J Nephrol. 2015;42(6):402-9.

19
Inhibition of CD47 Effectively Targets Pancreatic Cancer Stem Cells via Dual Mechanisms.

Clin Cancer Res. 2015 May 15;21(10):2325-37.

22
Hypoxia-induced endoplasmic reticulum stress characterizes a necrotic phenotype of pancreatic cancer.

Oncotarget. 2015 Oct 13;6(31):32154-60.

24
Hypertension in Chronic Kidney Disease Part 2: Role of Ambulatory and Home Blood Pressure Monitoring for Assessing Alterations in Blood Pressure Variability and Blood Pressure Profiles.

Hypertension. 2016 Jun;67(6):1102-10.

24
Hypertension in Chronic Kidney Disease Part 1: Out-of-Office Blood Pressure Monitoring: Methods, Thresholds, and Patterns.

Hypertension. 2016 Jun;67(6):1093-101.

28
Hypertension in Chronic Kidney Disease Part 2: Role of Ambulatory and Home Blood Pressure Monitoring for Assessing Alterations in Blood Pressure Variability and Blood Pressure Profiles.Low indoleamine 2,3-dioxygenase activity in persistent food allergy in children.

Allergy. 2016 Feb;71(2):258-66.

29
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Türkiye.

J Clin Endocrinol Metab. 2016 Jul;101(7):2759-67.

31
Epigenetic modifications of androgen receptor signaling in castration resistant prostate cancer (CRPC)

European Journal of Cancer, 2014 July;50(5):S99H.

32
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

J Med Genet. 2016 Sep;53(9):608-15

31
Epigenetic modifications of androgen receptor signaling in castration resistant prostate cancer (CRPC)

European Journal of Cancer, 2014 July;50(5):S99H.

32
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

J Med Genet. 2016 Sep;53(9):608-15

35
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Hum Mutat. 2015 Jun;36(6):593-8.

2
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026.

1
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

JCI Insight. 2016 Jun 16;1(9). pii: e87623

4
An unexpected tetanus case.

Ergonul O, Egeli D, Kahyaoglu B, Bahar M, Etienne M, Bleck T. Lancet Infect Dis. 2016 Jun;16(6):746-52.

6
A subset of metastatic pancreatic ductal adenocarcinomas depends quantitatively on oncogenic Kras/Mek/Erk-induced hyperactive mTOR signalling.

Gut. 2016 Apr;65(4):647-57

21
Crimean-Congo hemorrhagic fever among health care workers, Türkiye.

Emerg Infect Dis. 2014 Mar;20(3):477-9.

24
Validity of Vascular Calcification as a Screening Tool and as a Surrogate End Point in Clinical Research.

Hypertension. 2015 Jul;66(1):3-9

33
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001.

30
Serum sclerostin and adverse outcomes in nondialyzed chronic kidney disease patients.

J Clin Endocrinol Metab. 2014 Oct;99(10):E1854-61.

12
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

Am J Hum Genet. 2016 Aug 4;99(2):299-317.

34
Cor a 14, Hazelnut-Specific IgE, and SPT as a Reliable Tool in Hazelnut Allergy Diagnosis in Eastern Mediterranean Children.

J Allergy Clin Immunol Pract. 2016 Mar-Apr;4(2):265-72.e3

18
Emerging Escherichia coli O25b/ST131 clone predicts treatment failure in urinary tract infections.

Clin Infect Dis. 2015 Feb 15;60(4):523-7

9
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

J Clin Invest. 2015 Sep;125(9):3585-99.

23
βIII-tubulin: a novel mediator of chemoresistance and metastases in pancreatic cancer.

Oncotarget. 2015 Feb 10;6(4):2235-49.