Elżbieta Ciara

PhD; Head of the Molecular Genetics Lab

Children's Memorial Health Institute

Poland

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Elżbieta Ciara, PhD, is the Head of the Molecular Genetics Lab at the Children's Memorial Health Institute in Poland. Her research focuses on genetic disorders, including metabolic consequences of pathogenic variants and ciliopathies. Recent articles include studies on the genetic basis of conditions such as cardiomyopathy, Alport syndrome, and mitochondrial diseases.

Elżbieta Ciara

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Articles (18)

Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience

The Metabolic Consequences of Pathogenic Variant in <i>FXYD2</i> Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

Family Occurrence of an m.3303C>T Point Mutation in the <i>MT-TL1</i> Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

Carvajal syndrome related to two distinct molecular variants in desmoplakin gene.

Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

Clinical heterogeneity of polish patients with <i>KAT6B</i>–related disorder

Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015))

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience

Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying <i>HCN4</i> Pathogenic Variants

Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children

Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Deficyt cytrynu

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Collaborators (17)

Dorota Piekutowska-Abramczuk

Dorota Wesol-Kucharska

Patryk Lipinski

Lidia Ziolkowska

Mieczyslaw Litwin

Aleksandra Jezela-Stanek

Erik Eklund

Łukasz Kępczyński

Maciej Jaworski

Elzbieta Jurkiewicz

Agnieszka Zubkiewicz-Kucharska

Ewa Ehmke vel Emczynska-Seliga

Jedrzej Sarnecki

Dorota Wicher

Dariusz Rokicki

Ploski R

Marta Kalousova

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