Ivana Jedličková

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An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat

P. Flachs, M. Rossmeisl, J. Kopecký, 2022, Disease models & mechanisms.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

C. van Broeckhoven, S. Berkovic, A. Meurs, 2018, Neurology.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

S. Kmoch, E. Hrubá, T. Honzík, 2020, Journal of neuropathology and experimental neurology.

Rare copy number variation in extremely impulsively violent males

John Wei, S. Scherer, K. Hodaňová, 2018, Genes, brain, and behavior.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

A. Cavalié, K. Hodaňová, V. Helms, 2022, Life Science Alliance.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

K. Hodaňová, M. Vrbacký, H. Hartmannová, 2016, Human molecular genetics.

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

K. Hodaňová, H. Hartmannová, L. Nosková, 2020, Molecular genetics & genomic medicine.

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

T. Honzík, V. Stránecký, A. Přistoupilová, 2021, Annals of clinical and translational neurology.

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

Rare Copy Number Variation In an Extremely Impulsively Violent Males:

K. Hodaňová, H. Hartmannová, L. Nosková, 2018 .

Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

K. Hodaňová, H. Hartmannová, M. Zarrei, 2024, Genes, brain, and behavior.