Why functional pre-erythrocytic and bloodstage malaria vaccines fail: a meta-analysis of fully protective immunizations and novel immunological model.

by D Lys Guilbride, Pawel Gawlinski, Patrick D L Guilbride
Published 2010-01-01

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

by Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Published 2021-06-01

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

by Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski
Published 2021-04-01

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

by Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Pawel Gawlinski
Published 2022-09-01

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

by Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski
Published 2022-01-01

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

by Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Published 2019-09-01

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

by Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, Dawid Larysz, Paweł Gawliński, Grzegorz Koczyk, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryśkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Paweł Dominiak, Filip Glista, Karolina Matuszewska, Karolina Matuszewska, Aleksander Jamsheer, Aleksander Jamsheer
Published 2022-04-01

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

by Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas
Published 2024-05-01

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

by Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Published 2021-12-01