M. Dawidziuk

发表

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

P. Golik, T. Gambin, M. Mroczek, 2022, International journal of molecular sciences.

Berardinelli-Seip syndrome patient with novel AGPAT 2 splicesite mutation and concomitant development of non-diabetic polyneuropathy Short title : New AGPAT 2 splicesite mutation with polyneuropathy

Alicja, J. Lupski, S. Jhangiani, 2019 .

Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

J. Lupski, S. Jhangiani, W. Wiszniewski, 2018, Journal of clinical research in pediatric endocrinology.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

R. Durak, S. Bartoszewski, P. Podlasz, 2022, Cells.

Phenotype expansion and development in Kosaki overgrowth syndrome

J. Lupski, D. Muzny, S. Jhangiani, 2018, Clinical genetics.

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

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

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

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

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

E. Obersztyn, R. Płoski, A. Barczyk, 2021, Genes.

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

M. Dawidziuk, M. Bekiesińska-Figatowska, A. Kutkowska-Kaźmierczak, 2022, International journal of molecular sciences.

‘The Thousand Polish Genomes Project’ - a national database of Polish variant allele frequencies

P. Golik, T. Gambin, W. Wierzba, 2021, bioRxiv.

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)

R. Płoski, W. Wiszniewski, M. Rydzanicz, 2020, Journal of mother and child.

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene

E. Obersztyn, R. Płoski, W. Wiszniewski, 2021, Genes.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events following Immunization: A Descriptive Study of a Polish Case Series

A. Charzewska, B. Wojtaś, B. Gielniewski, 2023, International journal of molecular 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.

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes

A. Charzewska, D. Hoffman-Zacharska, M. Dawidziuk, 2024, International journal of molecular sciences.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

V. Narayanan, N. Orenstein, J. Giltay, 2024, Cell death & disease.