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Defining Molecular Treatment Targets for Bladder Pain Syndrome/Interstitial Cystitis: Uncovering Adhesion Molecules

Frontiers in pharmacology, 2022-03, Vol.13, p.780855-780855

2022

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Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

American journal of human genetics, 2016-08, Vol.99 (2), p.299-317

2016

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Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from turkey with McArdle disease

Neuromuscular disorders : NMD, 2017-11, Vol.27 (11), p.997-1008

2017

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HomSI: a homozygous stretch identifier from next-generation sequencing data

Bioinformatics, 2014-02, Vol.30 (3), p.445-447

2014

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Deetect: A Deep Learning-Based Image Analysis Tool for Quantification of Adherent Cell Populations on Oxygenator Membranes after Extracorporeal Membrane Oxygenation Therapy

Biomolecules (Basel, Switzerland), 2022-12, Vol.12 (12), p.1810

2022

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A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

Seizure (London, England), 2019-03, Vol.66, p.12-14

2019

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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

Neuromolecular medicine, 2019-03, Vol.21 (1), p.54-59

2019

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FMFilter: A fast model based variant filtering tool

Journal of biomedical informatics, 2016-04, Vol.60, p.319-327

2016

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A further family of Stromme syndrome carrying CENPF mutation

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1668-1672

2017

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Multi objective SNP selection using pareto optimality

Computational biology and chemistry, 2013-04, Vol.43, p.23-28

2013

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

Intractable & Rare Diseases Research, 2016, Vol.5(3), pp.222-226

2016

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

Acta neurologica Belgica, 2017-03, Vol.117 (1), p.159-167

2017

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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

Epilepsy research, 2015-07, Vol.113, p.5-10

2015

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Statistical bias and variance of gene selection and cross validation methods: A case study on hypertension prediction

Proceedings of 2012 IEEE-EMBS International Conference on Biomedical and Health Informatics, 2012, p.616-619

2012

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Comparison of aggregators for multi-objective SNP selection

2013 35th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), 2013, Vol.2013, p.3062-3065

2013

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Hypertension prediction by multi-objective optimization methods

2014 22nd Signal Processing and Communications Applications Conference (SIU), 2014, p.882-885

2014

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A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

Seizure, 2019, Vol.66, p.12-14

2019

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

Intractable & rare diseases research, 2016, Vol.5 (3), p.222-226

2016

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An Aggregated Cross-Validation Framework for Computational Discovery of Disease-Associative Genes

XIV Mediterranean Conference on Medical and Biological Engineering and Computing 2016, p.489-494

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Evaluation of the Concatenative Turkish Text-to-Speech System

2009 2nd International Congress on Image and Signal Processing, 2009, p.1-5

2009

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The role of mediastinal adipose tissue 11β-hydroxysteroid d ehydrogenase type 1 and glucocorticoid expression in the development of coronary atherosclerosis in obese patients with ischemic heart disease

Cardiovascular diabetology, 2012-09, Vol.11 (1), p.115-115

2012

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Mediastinal adipose tissue expresses a pathogenic profile of 11 β-hydroxysteroid dehydrogenase Type 1, glucocorticoid receptor, and CD68 in patients with coronary artery disease

Cardiovascular pathology, 2013-05, Vol.22 (3), p.183-188

2013

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The role of mediastinal adipose tissue 11[beta]-hydroxysteroid d ehydrogenase type 1 and glucocorticoid expression in the development of coronary atherosclerosis in obese patients with ischemic heart disease

Cardiovascular diabetology, 2012-09, Vol.11 (1), p.115-115

2012

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Defining Molecular Treatment Targets for Bladder Pain Syndrome/Interstitial Cystitis: Uncovering Adhesion Molecules

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from turkey with McArdle disease

HomSI: a homozygous stretch identifier from next-generation sequencing data

Deetect: A Deep Learning-Based Image Analysis Tool for Quantification of Adherent Cell Populations on Oxygenator Membranes after Extracorporeal Membrane Oxygenation Therapy

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

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

FMFilter: A fast model based variant filtering tool

A further family of Stromme syndrome carrying CENPF mutation

Multi objective SNP selection using pareto optimality

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

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

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

Statistical bias and variance of gene selection and cross validation methods: A case study on hypertension prediction

Comparison of aggregators for multi-objective SNP selection

Hypertension prediction by multi-objective optimization methods

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

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

An Aggregated Cross-Validation Framework for Computational Discovery of Disease-Associative Genes

Evaluation of the Concatenative Turkish Text-to-Speech System

The role of mediastinal adipose tissue 11β-hydroxysteroid d ehydrogenase type 1 and glucocorticoid expression in the development of coronary atherosclerosis in obese patients with ischemic heart disease

Mediastinal adipose tissue expresses a pathogenic profile of 11 β-hydroxysteroid dehydrogenase Type 1, glucocorticoid receptor, and CD68 in patients with coronary artery disease

The role of mediastinal adipose tissue 11[beta]-hydroxysteroid d ehydrogenase type 1 and glucocorticoid expression in the development of coronary atherosclerosis in obese patients with ischemic heart disease

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