Alicja Goszczańska-Ciuchta

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

E. Obersztyn, E. Jamroz, W. Wiszniewski, 2021, Genes.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

D. Hoffman-Zacharska, E. Szczepanik, J. Bal, 2015, Neurologia i neurochirurgia polska.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model

M. Smyk, L. Buzanska, D. Hoffman-Zacharska, 2023, Cells.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy

M. Bednarska-Makaruk, H. Mierzewska, E. Szczepanik, 2014, Journal of the Neurological Sciences.

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

E. Obersztyn, W. Wiszniewski, M. Dawidziuk, 2023, Journal of Applied Genetics.