Ekici, Arif B.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 825

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 345

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Teumer, A., Chaker, L., Groeneweg, S., Li, Y., Di Munno, C., Barbieri, C., Schultheiss, U. T., Traglia, M., Ahluwalia, T. S., Akiyama, M., et al. (2018) · Nature Communications

Thyroid Disorders and TreatmentsGenetic Associations and Epidemiology

Cited by 280

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 263

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

EMBRACE, Kuchenbaecker, K. B., Collaborators, G. S., Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Ramus, S. J., et al. (2015) · Nature Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

Cited by 250

PU.1 controls fibroblast polarization and tissue fibrosis

Wohlfahrt, T., Rauber, S., Uebe, S., Luber, M., Soare, A., Ekici, A., Weber, S., Matei, A.-E., Chen, C.-W., Maier, C., et al. (2019) · Nature

TGF-β signaling in diseasesLiver physiology and pathology

Cited by 187

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 132

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 121

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

Haskamp, S., Bruns, H., Hahn, M., Hoffmann, M., Gregor, A., Löhr, S., Hahn, J., Schauer, C., Ringer, M., Flamann, C., et al. (2020) · The American Journal of Human Genetics

Psoriasis: Treatment and PathogenesisNeutrophil, Myeloperoxidase and Oxidative Mechanisms

Cited by 84

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Vasileiou, G., Ekici, A. B., Uebe, S., Zweier, C., Hoyer, J., Engels, H., Behrens, J., Reis, A., & Hadjihannas, M. V. (2015) · The American Journal of Human Genetics

Chromatin Remodeling and CancerWnt/β-catenin signaling in development and cancer

Cited by 81

Body mass index and breast cancer survival: a Mendelian randomization analysis

Guo, Q., Burgess, S., Turman, C., Bolla, M. K., Wang, Q., Lush, M., Abraham, J., Aittomäki, K., Andrulis, I. L., Apicella, C., et al. (2017) · International Journal of Epidemiology

Cancer Risks and FactorsGenetic Associations and Epidemiology

Cited by 64

Results from the German Chronic Kidney Disease (GCKD) study support association of relative telomere length with mortality in a large cohort of patients with moderate chronic kidney disease

Fazzini, F., Lamina, C., Raschenberger, J., Schultheiss, U. T., Kotsis, F., Schönherr, S., Weissensteiner, H., Forer, L., Steinbrenner, I., Meiselbach, H., et al. (2020) · Kidney International

Telomeres, Telomerase, and SenescenceChronic Kidney Disease and Diabetes

Cited by 38

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

Rudolph, A., Fasching, P. A., Behrens, S., Eilber, U., Bolla, M. K., Wang, Q., Thompson, D., Czene, K., Brand, J. S., Li, J., et al. (2015) · Breast Cancer Research

Digital Radiography and Breast ImagingGenetic Associations and Epidemiology

Cited by 24

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A. B., Thiel, C. T., Reis, A., & Popp, B. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 18

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer

Kar, S. P., Considine, D. P. C., Tyrer, J. P., Plummer, J. T., Chen, S., Dezem, F. S., Barbeira, A. N., Rajagopal, P. S., Rosenow, W. T., Moreno, F., et al. (2021) · Human Genetics and Genomics Advances

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 18

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9