Zeynep Coban‐Akdemir
A5058116898- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Congenital heart defects research
- Immunodeficiency and Autoimmune Disorders
- Cancer Genomics and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Immune Cell Function and Interaction
- RNA Research and Splicing
- Cancer-related gene regulation
- RNA and protein synthesis mechanisms
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Hedgehog Signaling Pathway Studies
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Wnt/β-catenin signaling in development and cancer
- Mitochondrial Function and Pathology
- Microtubule and mitosis dynamics
- T-cell and B-cell Immunology
- Parvovirus B19 Infection Studies
The University of Texas Health Science Center at Houston
2020-2025
Baylor College of Medicine
2015-2024
Center for Human Genetics
2024
Weatherford College
2023
Universidad del Desarrollo
2023
Clínica Alemana
2023
University of Chile
2023
Pontificia Universidad Católica de Chile
2023
University of Texas Health Science Center at Dallas
2023
Istinye University
2022
Given the rarity of most single-gene Mendelian disorders, concerted efforts data exchange between clinical and scientific communities are critical to optimize molecular diagnosis novel disease gene discovery. We designed implemented protocols for study cases which a plausible was not achieved in genomics diagnostic laboratory (i.e. unsolved exomes). Such were recruited research further analyses, order potentially: (1) accelerate discovery; (2) increase yield whole exome sequencing (WES); (3)...
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated cells and associated with a variable clinical spectrum having overlap more common pathophysiologies. HLH difficult diagnose can be part inflammatory syndromes. Here, we identify novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients superimposable features, including neonatal-onset cytopenia dyshematopoiesis, autoinflammation,...
We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intragenic homozygous hemizygous (HMZ) deletions may represent complete loss-of-function of the indicated gene. HMZDelFinder was applied 4866 samples in Baylor-Hopkins Center for Mendelian Genomics (BHCMG) cohort detected 773 HMZ deletion calls (567 or 206 hemizygous) with estimated sensitivity 86.5% (82% single-exonic 88% multi-exonic calls) precision 78% (53% 96% calls). Out...
Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion cases which observed clinical features extend beyond those reported association with a "known" gene.Analyses focused on 106 patients, 19 whom was previously attributed to variation at known genes. We performed retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria...
Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than specific disease diagnosis. To date, 400 different disorders have been described that present with arthrogryposis, and variants of 220 genes associated these disorders; however, the underlying molecular etiology remains unknown considerable majority cases.We performed whole exome sequencing (WES) 52 patients presentation arthrogryposis from 48 families.Affected individuals 17...
Neurodevelopment is orchestrated by a wide range of genes, and the genetic causes neurodevelopmental disorders are thus heterogeneous. We applied whole exome sequencing (WES) for molecular diagnosis in silico analysis to identify novel disease gene candidates cohort from Saudi Arabia with primarily Mendelian neurologic diseases. performed WES 31 mostly consanguineous Arab families analyzed both single nucleotide copy number variants (CNVs) data. Interaction/expression network pathway...
Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a of viral susceptibility. cells develop from hematopoietic stem cells, few monogenic errors that specifically interrupt development have been reported. Here we described biallelic mutations IRF8, which encodes an interferon regulatory factor, cause familial deficiency results disease. Compound heterozygous or homozygous IRF8 3 unrelated families resulted paucity mature CD56dim increase the...
An inherited disorder makes WAVEs The WAVE regulatory complex (WRC) is a multiunit that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for WRC has not yet been established. Cook et al. studied five patients from four unrelated families who harbor missense variants of gene encoding component HEM1. These presented with recurrent infections and poor antibody along enhanced allergic autoimmune disorders. HEM1 was...
Alu elements, the short interspersed element numbering more than 1 million copies per human genome, can mediate formation of copy number variants (CNVs) between substrate pairs. These / -mediated rearrangements (AAMRs) result in pathogenic that cause diseases. To investigate impact AAMR on gene variation and health, we first characterized s are involved mediating CNVs (CNV- s) observed these tend to be evolutionarily younger. We then computationally generated, with assistance a...
Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation next-generation sequencing into clinical settings, particularly exome genome sequencing, has resulted in an unprecedented improvement diagnosis discovery the past decade. Nevertheless, these tools are unavailable many countries, increasing health care gaps between high- low-and-middle-income countries prolonging "diagnostic odyssey" for patients. To advance genomic diagnoses setting limited...
Embryonic stem cells are maintained in a self-renewing and pluripotent state by multiple regulatory pathways. Pluripotent-specific transcriptional networks sequentially reactivated as somatic reprogram to achieve pluripotency. How epigenetic regulators modulate this process contribute cell reprogramming is not clear. Here we performed functional RNAi screen identify the earliest required for reprogramming. We identified components of SAGA histone acetyltransferase complex, particular Gcn5,...