Esra Dikoglu
A5033234534- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- RNA regulation and disease
- Genomics and Rare Diseases
- SARS-CoV-2 and COVID-19 Research
- Glioma Diagnosis and Treatment
- Pancreatic and Hepatic Oncology Research
- Mitochondrial Function and Pathology
- Ferroptosis and cancer prognosis
- Dermatological and Skeletal Disorders
- COVID-19 Clinical Research Studies
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Long-Term Effects of COVID-19
- Radiomics and Machine Learning in Medical Imaging
- Connective tissue disorders research
- Lysosomal Storage Disorders Research
- Endoplasmic Reticulum Stress and Disease
- Congenital heart defects research
- Lipid metabolism and biosynthesis
- Chronic Kidney Disease and Diabetes
- HER2/EGFR in Cancer Research
- Skin and Cellular Biology Research
- Thyroid Cancer Diagnosis and Treatment
Memorial Sloan Kettering Cancer Center
2025
National Cancer Institute
2020-2022
National Institutes of Health
2020-2022
Center for Cancer Research
2021-2022
National Institute of Diabetes and Digestive and Kidney Diseases
2021
New York Genome Center
2016-2019
Rockefeller University
2015-2017
Howard Hughes Medical Institute
2016-2017
University of California, San Diego
2016
Children’s Institute
2016
Despite signs of infection—including taste loss, dry mouth and mucosal lesions such as ulcerations, enanthema macules—the involvement the oral cavity in coronavirus disease 2019 (COVID-19) is poorly understood. To address this, we generated analyzed two single-cell RNA sequencing datasets human minor salivary glands gingiva (9 samples, 13,824 cells), identifying 50 cell clusters. Using integrated normalization annotation, classified 34 unique subpopulations between gingiva. Severe acute...
Cortical-bone fragility is a common feature in osteoporosis that linked to nonvertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. The study genetic disorders the skeleton can yield insights fuel experimental therapeutic approaches treatment rare and skeletal ailments.We evaluated four patients with Pyle's disease, disorder characterized by thinning, limb deformity, fractures; two were examined means exome sequencing, Sanger sequencing. After candidate gene was...
Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 a single patient. The referred to the acronym are as follows: cerebral‐developmental delay, ocular‐cataracts, dental‐aberrant cusp morphology delayed eruption, auricular‐malformations of external ear, skeletal‐spondyloepiphyseal dysplasia. This distinctive constellation anatomical findings should allow easy recognition but despite this only four...
We and others have reported mutations in LONP1, a gene coding for mitochondrial chaperone protease, as the cause of human CODAS (cerebral, ocular, dental, auricular skeletal) syndrome (MIM 600373). Here, we delineate similar but distinct condition that shares epiphyseal, vertebral ocular changes also included severe microtia, nasal hypoplasia, other malformations, which propose name EVEN-PLUS vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation...
A study was undertaken to characterize the clinical features of newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped chromosome 1q42.12 due mutations in PYCR2 gene, encoding enzyme involved proline synthesis mitochondria.From several international clinics, 11 consanguineous families were identified by whole exome or targeted sequencing, detailed and radiological phenotyping. Selective from patients tested for effect on...
Galloway–Mowat syndrome is a rare autosomal‐recessive disorder classically described as the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating mutations in WDR73 ( WD repeat domain 73 ) were two 31 unrelated families with which was followed by report sibs an Egyptian consanguineous family. In this report, seven affecteds from four showing biallelic missense identified exome sequencing confirmed to follow recessive model inheritance. Three‐dimensional modeling...
We developed and validated a clinical whole-genome transcriptome sequencing (WGTS) assay that provides comprehensive genomic profile of patient's tumor. The ability to fully capture the mappable genome with sufficient coverage precisely call DNA somatic single nucleotide variants, insertions/deletions, copy number structural RNA gene fusions was analyzed. New York State's Department Health next-generation guidelines were expanded for establishing performance validation applicable sequencing....
Camurati–Engelmann disease is characterized by hyperostosis of the long bones and skull, muscle atrophy, severe limb pain, progressive joint contractures in some patients. It caused heterozygous mutations transforming growth factor β1 ( TGF β 1 ) believed to result improper folding latency‐associated peptide domain TGFβ1 thus increased or deregulated bioactivity. Losartan, an angiotensin II type receptor antagonist, has been found downregulate expression TGFβ 2 receptors. Clinical trials...
The tumor genome of a patient with advanced pancreatic cancer was sequenced to identify potential therapeutic targetable mutations after standard care failed produce any significant overall response. Matched tumor-normal whole-genome sequencing revealed somatic in BRAF, TP53, CDKN2A, and focal deletion SMAD4 BRAF variant an in-frame mutation (ΔN486_P490), which had been previously demonstrated be kinase-activating alteration the kinase domain. Working Novartis assistance program allowed us...
A 26-year-old otherwise healthy man died of fulminant myocarditis. Nasopharyngeal specimens collected premortem tested negative for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Histopathological evaluation the heart showed myocardial necrosis surrounded by cytotoxic T-cells and tissue-repair macrophages. Myocardial T-cell receptor (TCR) sequencing revealed hyper-dominant clones with highly similar sequences to TCRs that are specific SARS-CoV-2 epitopes. RNA was detected in...
Abstract Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs 1982, no new cases have been observed until the observation of unrelated 2008 who were homozygous for frameshift mutations TBX15 . We investigated an adult individual with a complex malformed rotated ears, neck, elbow contractures, hypoacusis, hypoplasia scapula pelvis on radiographs....
Prompted by the revolution in high-throughput sequencing and its potential impact for treating cancer patients, we initiated a clinical research study to compare ability of different assays analysis methods analyze glioblastoma tumors generate real-time treatment options physicians. A consortium seven institutions New York City enrolled 30 patients with performed tumor whole genome (WGS) RNA (RNA-seq; collectively WGS/RNA-seq); 20 these were also analyzed independent targeted panel...
Familial non-medullary thyroid cancer (FNMTC) is a form of endocrine malignancy exhibiting an autosomal dominant mode inheritance with largely unknown germline molecular mechanism. Hereditary nonpolyposis colorectal syndrome (HNPCC) another hereditary which, if proven to be caused by mutations in mismatch repair genes (MMR)-MLHL, MSH2, MSH6, PMS2, and EPCAM-is called Lynch (LS). LS results predisposition number cancers, especially endometrial cancers. Tumors are characterized microsatellite...