Krzysztof Szczaluba (Krzysztof Szczałuba, K Szczałuba)

ORCID

Publication Activity (10 Years)

Years Active: 2014-2023
Publications (10 Years): 17

Top Venues

Journal of applied genetics

Clinical genetics

Journal of medical genetics

Genes

Medical University of Warsaw

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Medical University of Warsaw Apr 01 2017

Poland

assistant professor :: Department of Medical Genetics

Publications

Julian Emanuel Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D King, Filippo M Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society (2023)
Aneta Czerwonogrodzka-Senczyna, Magdalena Milewska, Paweł Kwiecień, Krzysztof Szczaluba
Diet and Nutritional Status of Polish Girls with Rett Syndrome-A Case-Control Study. Nutrients 15 (15) (2023)
Snir Boniel, Krystyna Szymańska, Smigiel Robert, Krzysztof Szczaluba
Kabuki Syndrome-Clinical Review with Molecular Aspects. Genes 12 (4) (2021)
Krzysztof Szczaluba, Malgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wieslawa Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Ploski Rafal
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. Diagnostics (Basel, Switzerland) 11 (7) (2021)
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Ludovica Pasca, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczaluba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, null null
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of medical genetics (2021)
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczaluba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Ploski Rafal, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
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. Genes 12 (8) (2021)
Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Malgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczaluba, Monika Bekiesińska-Figatowska, Ploski Rafal, Jerzy Bal, Sylwia Rzonca-Niewczas
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*). Journal of mother and child 24 (3) (2021)
Krzysztof Szczaluba, Hanna Mierzewska, Smigiel Robert, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Malgorzata Rydzanicz, Ploski Rafal
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. Journal of applied genetics 61 (2) (2020)
Malgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bożena Bruhn-Olszewska, Marco Cavalli, Krzysztof Szczaluba, Marlena Młynek, Marcin M Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P Dumanski, Ploski Rafal
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications. Molecular genetics & genomic medicine 9 (1) (2020)
Ewelina M Olech, Anna Sowinska-Seidler, Krzysztof Szczaluba, Aleksander Jamsheer
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. Birth defects research 112 (9) (2020)
Krzysztof Szczaluba, Ewa Makuła, Anna Piórecka-Makuła, Justyna Sicińska, Malgorzata Rydzanicz, Piotr Gasperowicz, Ploski Rafal, Bozena Werner
Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review. Journal of applied genetics 61 (4) (2020)
Katarzyna Krenke, Krzysztof Szczaluba, Teresa Bielecka, Malgorzata Rydzanicz, Joanna Lange, Agnieszka Koppolu, Ploski Rafal
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clinical genetics 96 (5) (2019)
Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczaluba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosińska, Paweł Krajewski, Jennifer Castaneda, Ewa Obersztyn, Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Ploski Rafal
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Journal of medical genetics 56 (2) (2018)
Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C Cook, Paweł Lisowski, Bożena Kuźniewska, Krystyna Szymańska, Sebastian Diecke, Alessandro Prigione, Krzysztof Szczaluba, Aleksandra Szybińska, Agnieszka Koppolu, Victor Murcia Pienkowski, Joanna Kosińska, Małgorzata Wiweger, Grażyna Kostrzewa, Małgorzata Brzozowska, Dorota Domańska-Pakieła, Elżbieta Jurkiewicz, Piotr Stawiński, Agnieszka Gromadka, Piotr Zielenkiewicz, Urszula Demkow, Magdalena Dziembowska, Jacek Kuźnicki, Trevor P Creamer, Rafał Płoski
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. European journal of human genetics : EJHG 27 (1) (2018)
Krzysztof Szczaluba, Joanna J Chmielewska, Olga Sokolowska, Malgorzata Rydzanicz, Krystyna Szymańska, Wojciech Feleszko, Paweł Włodarski, Anna Biernacka, Victor Murcia Pienkowski, Anna Walczak, Elżbieta Bargeł, Katarzyna Królewczyk, Agata Nowacka, Piotr Stawiński, Dominika Nowis, Magdalena Dziembowska, Ploski Rafal
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. Clinical genetics 94 (6) (2018)
Krzysztof Szczaluba, K Szymańska, M Rydzanicz, Elżbieta Ciara, A Walczak, D Piekutowska-Abramczuk, J Kosińska, A Jacoszek, K Czerska, A Biernacka, M Laure-Kamionowska, P Gasperowicz, E Pronicka, Ploski Rafal
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clinical genetics 93 (5) (2017)
Krzysztof Szczaluba, Urszula Demkow
Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies. Journal of applied genetics 58 (2) (2016)
Krystyna Szymańska, Krzysztof Szczaluba, Agnieszka Lugowska, Ewa Obersztyn, Marek Radkowski, Beata A Nowakowska, Katarzyna Kuśmierska, Jolanta Tryfon, Urszula Demkow
The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders. BioMed research international 2014 (2014)

Krzysztof Szczaluba.css-eqlu8i{font-size:small;padding-left:4px;} (Krzysztof Szczałuba, K Szczałuba)

Publication Activity (10 Years)

Top Topics

Top Venues

Krzysztof Szczaluba (Krzysztof Szczałuba, K Szczałuba)