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Zeliha Gormez

Scientific and Technological Research Council of Turkey

23

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115

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A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

2019 Neuromolecular Medicine
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Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy

2017 Acta Neurologica Belgica
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A further family of Stromme syndrome carrying CENPF mutation

2017 American Journal of Medical Genetics Part A
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Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

2016 American Journal of Human Genetics
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FMFilter: A fast model based variant filtering tool

2016 Journal of Biomedical Informatics
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Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

2016 Intractable & Rare Diseases Research
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Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

2016
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Myophosphorylase (PYGM) mutations in Turkish patients with McArdle disease: A next generation sequencing study

2015 Neuromuscular Disorders
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A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family

2015 Epilepsy Research
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Hypertension prediction by multi-objective optimization methods

2014 SIU | Signal Processing and Communications Applications Conference
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