Esra Dikoglu

Esra Dikoglu

National Institutes of Health - Bethesda / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4395283
person_outline Esra Dikoglu's MOST POPULAR ARTICLES
1-) Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s diseasePO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ...New England Journal of Medicine 374 (26), 2553-2562, 2016
2-) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionN Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ...Nature genetics 47 (5), 528-534, 2015
3-) Indel variant analysis of short-read sequencing data with ScalpelH Fang, EA Bergmann, K Arora, V Vacic, MC Zody, I Iossifov, JA O\\\\\\\'Rawe, ...Nature protocols 11 (12), 2529-2548, 2016902016
4-) The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypesO Basturk, M Tan, U Bhanot, P Allen, V Adsay, SN Scott, R Shah, ...Modern Pathology 29 (9), 1058-1069, 20161032016
5-) Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ...Nature genetics 49 (3), 457-464, 20171012017