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Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism
Author / Creator:Dawidziuk, Mateusz ; Podwysocka, Aleksandra ; Jurek, Marta ; Obersztyn, Ewa ; Bekiesinska-Figatowska, Monika ; Goszczanska-Ciuchta, Alicja ; Bukowska-Olech, Ewelina ; Rygiel, Agnieszka Magdalena ; Guilbride, Dorothy Lys ; Wiszniewski, Wojciech ; Gawlinski, Pawel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2023-09, Vol.64 (3), p.507-514
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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Author / Creator:Oswiecimska, Joanna ; Dawidziuk, Mateusz ; Gambin, Tomasz ; Ziora, Katarzyna ; Marek, Marta ; Rzonca, Sylwia ; Guilbride, D. Lys ; Jhangiani, Shalini N. ; Obuchowicz, Anna ; Sikora, Alicja ; Lupski, James R. ; Wiszniewski, Wojciech ; Gawlinski, Pawel
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2019-09, Vol.11 (3), p.319-326
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A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly
Author / Creator:Bartoszewski, Slawomir ; Dawidziuk, Mateusz ; Kasica, Natalia ; Durak, Roma ; Jurek, Marta ; Podwysocka, Aleksandra ; Guilbride, Dorothy Lys ; Podlasz, Piotr ; Winata, Cecilia Lanny ; Gawlinski, Pawel
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-09, Vol.11 (17), p.2727
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Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes
Author / Creator:Witkowski, Grzegorz ; Szulczyk, Bartlomiej ; Nurowska, Ewa ; Jurek, Marta ; Pasierski, Michal ; Lipiec, Agata ; Charzewska, Agnieszka ; Dawidziuk, Mateusz ; Milewski, Michal ; Owsiak, Szymon ; Rola, Rafal ; Sienkiewicz Jarosz, Halina ; Hoffman-Zacharska, Dorota
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-02, Vol.25 (3), p.1745
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De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kazmierczak, Anna ; Bukowska-Olech, Ewelina ; Jurek, Marta ; Kalka, Ewa ; Guilbride, Dorothy Lys ; Furmanek, Mariusz Ireneusz ; Bekiesinska-Figatowska, Monika ; Bal, Jerzy ; Gawlinski, Pawel
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-01, Vol.23 (2), p.692
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The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
Author / Creator:Kaja, Elżbieta ; Lejman, Adrian ; Sielski, Dawid ; Sypniewski, Mateusz ; Gambin, Tomasz ; Dawidziuk, Mateusz ; Suchocki, Tomasz ; Golik, Paweł ; Wojtaszewska, Marzena ; Mroczek, Magdalena ; Stępień, Maria ; Szyda, Joanna ; Lisiak-Teodorczyk, Karolina ; Wolbach, Filip ; Kołodziejska, Daria ; Ferdyn, Katarzyna ; Dąbrowski, Maciej ; Woźna, Alicja ; Żytkiewicz, Marcin ; Bodora-Troińska, Anna ; Elikowski, Waldemar ; Król, Zbigniew J. ; Zaczyński, Artur ; Pawlak, Agnieszka ; Gil, Robert ; Wierzba, Waldemar ; Dobosz, Paula ; Zawadzka, Katarzyna ; Zawadzki, Paweł ; Sztromwasser, Paweł
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-04, Vol.23 (9), p.4532
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Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series
Author / Creator:Charzewska, Agnieszka ; Terczyńska, Iwona ; Lipiec, Agata ; Mazurczak, Tomasz ; Górka-Skoczylas, Paulina ; Szlendak, Róża ; Kanabus, Karolina ; Tataj, Renata ; Dawidziuk, Mateusz ; Wojtaś, Bartosz ; Gielniewski, Bartłomiej ; Bal, Jerzy ; Stawicka, Elżbieta ; Hoffman-Zacharska, Dorota
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1117
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ArticlesPeer ReviewedFull Text
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Author / Creator:Werren, Elizabeth A ; Peirent, Emily R ; Jantti, Henna ; Guxholli, Alba ; Srivastava, Kinshuk Raj ; Orenstein, Naama ; Narayanan, Vinodh ; Wiszniewski, Wojciech ; Dawidziuk, Mateusz ; Gawlinski, Pawel ; Umair, Muhammad ; Khan, Amjad ; Khan, Shahid Niaz ; Geneviève, David ; Lehalle, Daphné ; van Gassen, K. L. I ; Giltay, Jacques C ; Oegema, Renske ; van Jaarsveld, Richard H ; Rafiullah, Rafiullah ; Rappold, Gudrun A ; Rabin, Rachel ; Pappas, John G ; Wheeler, Marsha M ; Bamshad, Michael J ; Tsan, Yao-Chang ; Johnson, Matthew B ; Keegan, Catherine E ; Srivastava, Anshika ; Bielas, Stephanie L
Publisher:London: Springer Nature B.V
Journal title:Cell death & disease, 2024-05, Vol.15 (5), p.379
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development
Author / Creator:Wiszniewski, Wojciech ; Gawlinski, Pawel ; Gambin, Tomasz ; Bekiesinska-Figatowska, Monika ; Obersztyn, Ewa ; Antczak-Marach, Dorota ; Zeynep Hande Coban Akdemir ; Harel, Tamar ; Karaca, Ender ; Jurek, Marta ; Sobecka, Katarzyna ; Nowakowska, Beata ; Kruk, Malgorzata ; Terczynska, Iwona ; Goszczanska-Ciuchta, Alicja ; Rudzka-Dybala, Mariola ; Jamroz, Ewa ; Pyrkosz, Antoni ; Jakubiuk-Tomaszuk, Anna ; Iwanowski, Piotr ; Gieruszczak-Bialek, Dorota ; Piotrowicz, Malgorzata ; Sasiadek, Maria ; Kochanowska, Iwona ; Gurda, Barbara ; Steinborn, Barbara ; Dawidziuk, Mateusz ; Castaneda, Jennifer ; Wlasienko, Pawel ; Bezniakow, Natalia ; Jhangiani, Shalini N ; Hoffman-Zacharska, Dorota ; Bal, Jerzy ; Szczepanik, Elzbieta ; Boerwinkle, Eric ; Gibbs, Richard A ; Lupski, James R
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1121-1131
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Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Author / Creator:Slezak, Ryszard ; Smigiel, Robert ; Obersztyn, Ewa ; Pollak, Agnieszka ; Dawidziuk, Mateusz ; Wiszniewski, Wojciech ; Bekiesinska-Figatowska, Monika ; Rydzanicz, Malgorzata ; Ploski, Rafal ; Gawlinski, Pawel
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-04, Vol.12 (4), p.594
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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Author / Creator:Wertheim-Tysarowska, Katarzyna ; Osipowicz, Katarzyna ; Woźniak, Katarzyna ; Sawicka, Justyna ; Mika, Adrianna ; Kutkowska-Kaźmierczak, Anna ; Niepokój, Katarzyna ; Sobczyńska-Tomaszewska, Agnieszka ; Wawrzycki, Bartłomiej ; Pietrzak, Aldona ; Śmigiel, Robert ; Wojtaś, Bartosz ; Gielniewski, Bartłomiej ; Szabelska-Beresewicz, Alicja ; Zyprych-Walczak, Joanna ; Rygiel, Agnieszka Magdalena ; Domaszewicz, Alicja ; Braun-Walicka, Natalia ; Grabarczyk, Alicja ; Rzońca-Niewczas, Sylwia ; Lidia, Ruszkowska ; Dawidziuk, Mateusz ; Domański, Dominik ; Gambin, Tomasz ; Jackiewicz, Monika ; Duk, Katarzyna ; Dorożko, Barbara ; Szczygielski, Orest ; Krześniak, Natalia ; Noszczyk, Bartłomiej H ; Obersztyn, Ewa ; Wierzba, Jolanta ; Barczyk, Artur ; Castaneda, Jennifer ; Eckersdorf-Mastalerz, Anna ; Jakubiuk-Tomaszuk, Anna ; Własienko, Paweł ; Jaszczuk, Ilona ; Jezela-Stanek, Aleksandra ; Klapecki, Jakub ; van Geel, Michel ; Kowalewski, Cezary ; Bal, Jerzy ; Gostyński, Antoni
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.413-14, Article 413
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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly
Author / Creator:Dawidziuk, Mateusz ; Gambin, Tomasz ; Bukowska-Olech, Ewelina ; Antczak-Marach, Dorota ; Badura-Stronka, Magdalena ; Buda, Piotr ; Budzynska, Edyta ; Castaneda, Jennifer ; Chilarska, Tatiana ; Czyzyk, Elzbieta ; Eckersdorf-Mastalerz, Anna ; Fijak-Moskal, Jolanta ; Gieruszczak-Bialek, Dorota ; Glodek-Brzozowska, Ewelina ; Goszczanska-Ciuchta, Alicja ; Grzeszykowska-Podymniak, Malgorzata ; Gurda, Barbara ; Jakubiuk-Tomaszuk, Anna ; Jamroz, Ewa ; Janeczko, Magdalena ; Jedlińska-Pijanowska, Dominika ; Jurek, Marta ; Karolewska, Dagmara ; Kazmierczak, Adela ; Kleist, Teresa ; Kochanowska, Iwona ; Krajewska-Walasek, Malgorzata ; Kufel, Katarzyna ; Kutkowska-Kaźmierczak, Anna ; Lipiec, Agata ; Maksym-Gasiorek, Dorota ; Materna-Kiryluk, Anna ; Mazurkiewicz, Hanna ; Milewski, Michał ; Pavina-Guglas, Tatsiana ; Pietrzyk, Aleksandra ; Posmyk, Renata ; Pyrkosz, Antoni ; Rudzka-Dybala, Mariola ; Slezak, Ryszard ; Wisniewska, Marzena ; Zalewska-Miszkurka, Zofia ; Szczepanik, Elzbieta ; Obersztyn, Ewa ; Bekiesinska-Figatowska, Monika ; Gawlinski, Pawel ; Wiszniewski, Wojciech
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-12, Vol.12 (12), p.2014
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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...
Author / Creator:Kutkowska-Kaźmierczak, Anna ; Boczar, Maria ; Kalka, Ewa ; Castañeda, Jennifer ; Klapecki, Jakub ; Pietrzyk, Aleksandra ; Barczyk, Artur ; Malinowska, Olga ; Landowska, Aleksandra ; Gambin, Tomasz ; Kowalczyk, Katarzyna ; Wiśniowiecka-Kowalnik, Barbara ; Smyk, Marta ; Dawidziuk, Mateusz ; Niepokój, Katarzyna ; Paczkowska, Magdalena ; Szyld, Paweł ; Lipska-Ziętkiewicz, Beata ; Szczałuba, Krzysztof ; Kostyk, Ewa ; Runge, Agata ; Rutkowska, Karolina ; Płoski, Rafał ; Nowakowska, Beata ; Bal, Jerzy ; Obersztyn, Ewa ; Gos, Monika
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (8), p.1257
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kaźmierczak, Anna ; Gawliński, Paweł ; Wiszniewski, Wojciech ; Gos, Monika ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Kosińska, Joanna ; Własienko, Paweł ; Malinowska Kordowska, Olga ; Bartnik-Głaska, Magdalena ; Bernaciak, Joanna ; Szczałuba, Krzysztof ; Bekiesińska-Figatowska, Monika ; Płoski, Rafał ; Bal, Jerzy ; Olimpia Rzońca-Niewczas, Sylwia
Publisher:Poland: Sciendo
Journal title:Journal of Mother and Child, 2021-04, Vol.24 (3), p.32-36
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ArticlesPeer ReviewedFull Text
Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
Author / Creator:Oswiecimska, Joanna ; Dawidziuk, Mateusz ; Gambin, Tomasz ; Ziora, Katarzyna ; Marek, Marta ; Rzonca, Sylwia ; Guilbride, D. Lys ; Jhangiani, Shalini N. ; Obuchowicz, Anna ; Sikora, Alicja ; Lupski, James R. ; Wiszniewski, Wojciech ; Gawlinski, Pawel
Journal title:Journal of clinical research in pediatric endocrinology, 2018-12
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ReportsFull Text
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome
Author / Creator:Dawidziuk, Mateusz ; Kutkowska-Kazmierczak, Anna ; Bukowska-Olech, Ewelina ; Jurek, Marta ; Kalka, Ewa ; Guilbride, Dorothy Lys ; Furmanek, Mariusz Ireneusz ; Bekiesinska-Figatowska, Monika ; Bal, Jerzy ; Gawlinski, Pawel
Journal title:International journal of molecular sciences, 2022, Vol.23 (2)
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Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

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A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

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

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

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

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

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

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings

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

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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...

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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)

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

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

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