Malgorzata Rydzanicz

Affiliations

Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Publications (86)

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway.

International journal of pediatric otorhinolaryngology

Avec: Tomasz Zatoński , Katarzyna Pazdro-Zastawny , Monika Morawska-Kochman , Mateusz Biela , Anna Kołtowska , Małgorzata Rydzanicz , Anna Rozensztrauch , Joanna Kosińska , Karolina Dorobisz , Rafał Płoski , Robert Śmigiel

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

Clinical genetics

Avec: Aleksandra Jezela-Stanek , Elżbieta Szczepanik , Hanna Mierzewska , Małgorzata Rydzanicz , Karolina Rutkowska , Alexej Knaus , Robert Śmigiel , Iwona Stępniak , Michał G Markiewicz , Snir Boniel , Peter Krawitz , Rafał Płoski

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

European journal of medical genetics

Avec: Petra Dosekova , Andrzej Dubiel , Anna Karlowicz , Szymon Zietkiewicz , Viera Habalova , Victor Murcia Pienkowski , Miriam Skirkova , Vladimir Han , Alexandra Mosejova , Zuzana Gdovinova , Magdalena Kaliszewska , Katarzyna Tońska , Michal R Szymanski , Matej Skorvanek , Rafal Ploski

Author Correction: Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta.

Scientific data

Avec: Robert M Nowak , Jan P Jastrzębski , Wiktor Kuśmirek , Rusłan Sałamatin , Małgorzata Rydzanicz , Agnieszka Sobczyk-Kopcioł , Anna Sulima-Celińska , Łukasz Paukszto , Karol G Makowczenko , Rafał Płoski , Vasyl V Tkach , Katarzyna Basałaj , Daniel Młocicki

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Metabolic brain disease

Avec: Paulina Pokora , Aleksandra Jezela-Stanek , Agnieszka Różdżyńska-Świątkowska , Elżbieta Jurkiewicz , Anna Bogdańska , Edyta Szymańska , Dariusz Rokicki , Elżbieta Ciara , Małgorzata Rydzanicz , Piotr Stawiński , Rafał Płoski , Anna Tylki-Szymańska

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Clinical genetics

Avec: Magdalena Krygier , Mariusz Kwarciany , Krystyna Wasilewska , Victor Murcia Pienkowski , Natalia Krawczyńska , Daniel Zielonka , Joanna Kosińska , Piotr Stawinski , Monika Rudzińska-Bar , Magdalena Boczarska-Jedynak , Bartosz Karaszewski , Janusz Limon , Jarosław Sławek , Rafał Płoski , Małgorzata Rydzanicz

The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case.

Seizure

Avec: Hanna Mierzewska , Milena Laure-Kamionowska , Aleksandra Jezela-Stanek , Małgorzata Rydzanicz , Rafał Płoski , Elżbieta Szczepanik

Characterization of Ocular Surface Microbial Profiles Revealed Discrepancies between Conjunctival and Corneal Microbiota.

Pathogens (Basel, Switzerland)

Avec: Anna Matysiak , Michal Kabza , Justyna A Karolak , Marcelina M Jaworska , Rafal Ploski , Jacek P Szaflik , Marzena Gajecka

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked

Genes

Avec: Agnieszka Stembalska , Małgorzata Rydzanicz , Wojciech Walas , Piotr Gasperowicz , Agnieszka Pollak , Victor Murcia Pienkowski , Mateusz Biela , Magdalena Klaniewska , Zuzanna Gamrot , Ewa Gronska , Rafal Ploski , Robert Smigiel

Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning-An Analysis by RNA Sequencing.

International journal of molecular sciences

Avec: Katarzyna Zielniok , Anna Burdzinska , Victor Murcia Pienkowski , Agnieszka Koppolu , Radoslaw Zagozdzon , Leszek Paczek

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Molecular genetics & genomic medicine

Avec: Mateusz Biela , Krystyna Szymanska , Karolina Pieniawska-Smiech , Aleksandra Lewandowicz-Uszynska , Joanna Chruszcz , Lucyna Benben , Malgorzata Kuzior-Plawiak , Pawel Szyld , Aleksandra Jakubiak , Leszek Szenborn , Rafal Ploski , Robert Smigiel

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

American journal of medical genetics. Part A

Avec: Małgorzata Rydzanicz , Wojciech Glinkowski , Anna Walczak , Agnieszka Koppolu , Grażyna Kostrzewa , Piotr Gasperowicz , Agnieszka Pollak , Piotr Stawiński , Rafał Płoski

Prenatal Detection of a

Genes

Avec: Katarzyna Bzdęga , Anna Kutkowska-Kaźmierczak , Gail H Deutsch , Izabela Plaskota , Marta Smyk , Magdalena Niemiec , Artur Barczyk , Ewa Obersztyn , Jan Modzelewski , Iwona Lipska , Paweł Stankiewicz , Marzena Gajecka , Małgorzata Rydzanicz , Rafał Płoski , Tomasz Szczapa , Justyna A Karolak

Further Delineation of Clinical Phenotype of

Genes

Avec: Aleksandra Bodetko , Joanna Chrzanowska , Agnieszka Borys-Iwanicka , Pawel Karpinski , Joanna Bladowska , Rafal Ploski , Robert Smigiel

Further evaluation of differential expression of keratoconus candidate genes in human corneas.

PeerJ

Avec: Justyna A Karolak , Barbara Ginter-Matuszewska , Katarzyna Tomela , Michal Kabza , Dorota M Nowak-Malczewska , Piotr Polakowski , Jacek P Szaflik , Marzena Gajecka

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci.

Investigative ophthalmology & visual science

Avec: Michal Kabza , Justyna A Karolak , Monika Udziela , Piotr Gasperowicz , Rafal Ploski , Jacek P Szaflik , Marzena Gajecka

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

Clinical genetics

Avec: Katarzyna Krenke , Krzysztof Szczałuba , Teresa Bielecka , Małgorzata Rydzanicz , Joanna Lange , Agnieszka Koppolu , Rafał Płoski

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Muscle & nerve

Avec: Maria Jędrzejowska , Emilia Dębek , Bartłomiej Kowalczyk , Paulina Halat , Anna Kostera-Pruszczyk , Elżbieta Ciara , Aleksandra Jezela-Stanek , Małgorzata Rydzanicz , Piotr Gasperowicz , Monika Gos

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

Advances in medical sciences

Avec: Joanna Swierkowska , Justyna A Karolak , Tomasz Gambin , Agata Frajdenberg , Malgorzata Mrugacz , Monika Podfigurna-Musielak , Pawel Stankiewicz , James R Lupski , Marzena Gajecka

Search for Viral Infections in Cerebrospinal Fluid From Patients With Autoimmune Encephalitis.

Open forum infectious diseases

Avec: Karol Perlejewski , Agnieszka Pawełczyk , Iwona Bukowska-Ośko , Małgorzata Rydzanicz , Tomasz Dzieciątkowski , Marcin Paciorek , Michał Makowiecki , Kamila Caraballo Cortés , Marta Grochowska , Marek Radkowski , Tomasz Laskus

Next-generation sequencing in the diagnosis of viral encephalitis: sensitivity and clinical limitations.

Scientific reports

Avec: Karol Perlejewski , Iwona Bukowska-Ośko , Małgorzata Rydzanicz , Agnieszka Pawełczyk , Kamila Caraballo Cortѐs , Sylwia Osuch , Marcin Paciorek , Tomasz Dzieciątkowski , Marek Radkowski , Tomasz Laskus

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International journal of molecular sciences

Avec: Tomasz M Grzywa , Agnieszka A Koppolu , Wiktor Paskal , Klaudia Klicka , Małgorzata Rydzanicz , Jarosław Wejman , Rafał Płoski , Paweł K Włodarski

Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Cells

Avec: Agnieszka Koppolu , Radosław B Maksym , Wiktor Paskal , Marcin Machnicki , Beata Rak , Monika Pępek , Filip Garbicz , Kacper Pełka , Zofia Kuśmierczyk , Joanna Jacko , Małgorzata Rydzanicz , Magdalena Banach-Orłowska , Tomasz Stokłosa , Rafał Płoski , Jacek Malejczyk , Paweł K Włodarski

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.

Molecular genetics & genomic medicine

Avec: Małgorzata Rydzanicz , Pawel Olszewski , Darek Kedra , Hanna Davies , Natalia Filipowicz , Bozena Bruhn-Olszewska , Marco Cavalli , Krzysztof Szczałuba , Marlena Młynek , Marcin M Machnicki , Piotr Stawiński , Grażyna Kostrzewa , Paweł Krajewski , Dariusz Śladowski , Krystyna Chrzanowska , Jan P Dumanski , Rafał Płoski

Search for viral agents in cerebrospinal fluid in patients with multiple sclerosis using real-time PCR and metagenomics.

PloS one

Avec: Karol Perlejewski , Iwona Bukowska-Ośko , Małgorzata Rydzanicz , Tomasz Dzieciątkowski , Beata Zakrzewska-Pniewska , Aleksandra Podlecka-Piętowska , Agata Filipiak , Krzysztof Barć , Kamila Caraballo Cortés , Agnieszka Pawełczyk , Marek Radkowski , Tomasz Laskus

The most frequent Polish

Archives of medical science : AMS

Avec: Marta Podralska , Agnieszka Dzikiewicz-Krawczyk , Maria Mosor , Magdalena Żurawek , Katarzyna Iżykowska , Ryszard Słomski , Małgorzata Rydzanicz , Piotr Gabryel , Wojciech Dyszkiewicz , Iwona Ziółkowska-Suchanek

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity

Frontiers in pediatrics

Avec: Magdalena Klaniewska , Krystian Toczewski , Anna Rozensztrauch , Michal Bloch , Agata Dzielendziak , Piotr Gasperowicz , Ryszard Slezak , Rafał Ploski , Małgorzata Rydzanicz , Robert Smigiel , Dariusz Patkowski

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in

Genes

Avec: Agnieszka Stembalska , Małgorzata Rydzanicz , Magdalena Klaniewska , Lech Dudarewicz , Agnieszka Pollak , Mateusz Biela , Piotr Stawinski , Rafal Ploski , Robert Smigiel

The RNA-Binding Landscape of HAX1 Protein Indicates Its Involvement in Translation and Ribosome Assembly.

Cells

Avec: Anna Balcerak , Ewelina Macech-Klicka , Maciej Wakula , Rafal Tomecki , Krzysztof Goryca , Mateusz Chmielarczyk , Malgorzata Szostakowska-Rodzos , Marta Wisniewska , Filip Lyczek , Aleksandra Helwak , David Tollervey , Grzegorz Kudla , Ewa A Grzybowska

Gender Influences Gut Microbiota among Patients with Irritable Bowel Syndrome.

International journal of molecular sciences

Avec: Paulina Pecyna , Marcin Gabryel , Dorota Mankowska-Wierzbicka , Dorota M Nowak-Malczewska , Katarzyna Jaskiewicz , Marcelina M Jaworska , Hanna Tomczak , Rafal Ploski , Marian Grzymislawski , Agnieszka Dobrowolska , Marzena Gajecka

Breakpoint Mapping of Symptomatic Balanced Translocations Links the

Journal of clinical medicine

Avec: Victor Murcia Pienkowski , Marzena Kucharczyk , Małgorzata Rydzanicz , Barbara Poszewiecka , Katarzyna Pachota , Marlena Młynek , Piotr Stawiński , Agnieszka Pollak , Joanna Kosińska , Katarzyna Wojciechowska , Monika Lejman , Agata Cieślikowska , Dorota Wicher , Agnieszka Stembalska , Karolina Matuszewska , Anna Materna-Kiryluk , Anna Gambin , Krystyna Chrzanowska , Małgorzata Krajewska-Walasek , Rafał Płoski

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.

PeerJ

Avec: Justyna A Karolak , Tomasz Gambin , Piotr Polakowski , Rafal Ploski , Jacek P Szaflik , Marzena Gajecka

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Molecular genetics & genomic medicine

Avec: Ryszard Slezak , Robert Smigiel , Agnieszka Pollak , Joanna Kosinska , Piotr Stawinski , Maria Malgorzata Sasiadek , Rafal Ploski

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Journal of clinical medicine

Avec: Robert Śmigiel , Mateusz Biela , Krzysztof Szmyd , Michal Błoch , Elżbieta Szmida , Paweł Skiba , Anna Walczak , Piotr Gasperowicz , Joanna Kosińska , Małgorzata Rydzanicz , Piotr Stawiński , Anna Biernacka , Marzena Zielińska , Waldemar Gołębiowski , Agnieszka Jalowska , Grażyna Ohia , Bożena Głowska , Wojciech Walas , Barbara Królak-Olejnik , Paweł Krajewski , Jolanta Sykut-Cegielska , Maria M Sąsiadek , Rafał Płoski

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anjali Vig , James A Poulter , Daniele Ottaviani , Erika Tavares , Katerina Toropova , Anna Maria Tracewska , Antonio Mollica , Jasmine Kang , Oshini Kehelwathugoda , Tara Paton , Jason T Maynes , Gabrielle Wheway , Gavin Arno , Auteur inconnu , Kamron N Khan , Martin McKibbin , Carmel Toomes , Manir Ali , Matteo Di Scipio , Shuning Li , Jamie Ellingford , Graeme Black , Andrew Webster , Małgorzata Rydzanicz , Piotr Stawiński , Rafał Płoski , Ajoy Vincent , Michael E Cheetham , Chris F Inglehearn , Anthony Roberts , Elise Heon

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Clinical genetics

Avec: Anna Jakubiuk-Tomaszuk , Victor Murcia Pienkowski , Szymon Zietkiewicz , Małgorzata Rydzanicz , Joanna Kosińska , Piotr Stawiński , Michał Szumiński , Rafał Płoski

The

Journal of mother and child

Avec: Mateusz Dawidziuk , Anna Kutkowska-Kaźmierczak , Paweł Gawliński , Wojciech Wiszniewski , Monika Gos , Piotr Stawiński , Małgorzata Rydzanicz , Joanna Kosińska , Paweł Własienko , Olga Malinowska Kordowska , Magdalena Bartnik-Głaska , Joanna Bernaciak , Krzysztof Szczałuba , Monika Bekiesińska-Figatowska , Rafał Płoski , Jerzy Bal , Sylwia Olimpia Rzońca-Niewczas

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.

Journal of applied genetics

Avec: Krzysztof Szczałuba , Ewa Makuła , Anna Piórecka-Makuła , Justyna Sicińska , Małgorzata Rydzanicz , Piotr Gasperowicz , Rafał Płoski , Bożena Werner

Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.

BMC neuroscience

Avec: Laszlo Szpisjak , Gabor Szaraz , Andras Salamon , Viola L Nemeth , Noemi Szepfalusi , Gabor Veres , Balint Kincses , Zoltan Maroti , Tibor Kalmar , Rafal Ploski , Peter Klivenyi , Denes Zadori

Brain Tissue Low-Level Mosaicism for

Diagnostics (Basel, Switzerland)

Avec: Krzysztof Szczałuba , Małgorzata Rydzanicz , Anna Walczak , Joanna Kosińska , Agnieszka Koppolu , Anna Biernacka , Katarzyna Iwanicka-Pronicka , Wiesława Grajkowska , Elżbieta Jurkiewicz , Paweł Kowalczyk , Rafał Płoski

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by

Genes

Avec: Mateusz Biela , Agnieszka Jankowska , Agnieszka Szlagatys-Sidorkiewicz , Anna Rozensztrauch , Rafał Płoski , Robert Smigiel

Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Biomedicines

Avec: Aleksander Salomon-Perzyński , Joanna Barankiewicz , Marcin Machnicki , Irena Misiewicz-Krzemińska , Michał Pawlak , Sylwia Radomska , Agnieszka Krzywdzińska , Aleksandra Bluszcz , Piotr Stawiński , Małgorzata Rydzanicz , Natalia Jakacka , Iwona Solarska , Katarzyna Borg , Zofia Spyra-Górny , Tomasz Szpila , Bartosz Puła , Sebastian Grosicki , Tomasz Stokłosa , Rafał Płoski , Ewa Lech-Marańda , Jana Jakubikova , Krzysztof Jamroziak

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

American journal of human genetics

Avec: Hadia Hijazi , Linda M Reis , Davut Pehlivan , Jonathan A Bernstein , Michael Muriello , Erin Syverson , Devon Bonner , Mehrdad A Estiar , Ziv Gan-Or , Guy A Rouleau , Ekaterina Lyulcheva , Lynn Greenhalgh , Marine Tessarech , Estelle Colin , Agnès Guichet , Dominique Bonneau , R H van Jaarsveld , A M A Lachmeijer , Lyse Ruaud , Jonathan Levy , Anne-Claude Tabet , Rafal Ploski , Małgorzata Rydzanicz , Łukasz Kępczyński , Katarzyna Połatyńska , Yidan Li , Jawid M Fatih , Dana Marafi , Jill A Rosenfeld , Zeynep Coban-Akdemir , Weimin Bi , Richard A Gibbs , Grace M Hobson , Jill V Hunter , Claudia M B Carvalho , Jennifer E Posey , Elena V Semina , James R Lupski

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Human molecular genetics

Avec: Abhishek Anil Dubey , Magdalena Krygier , Natalia A Szulc , Karolina Rutkowska , Joanna Kosińska , Agnieszka Pollak , Małgorzata Rydzanicz , Tomasz Kmieć , Maria Mazurkiewicz-Bełdzińska , Wojciech Pokrzywa , Rafał Płoski

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus.

PloS one

Avec: Katarzyna Jaskiewicz , Magdalena Maleszka-Kurpiel , Andrzej Michalski , Rafal Ploski , Marzena Gajecka

The Impaired Wound Healing Process Is a Major Factor in Remodeling of the Corneal Epithelium in Adult and Adolescent Patients With Keratoconus.

Investigative ophthalmology & visual science

Avec: Katarzyna Jaskiewicz , Magdalena Maleszka-Kurpiel , Eliza Matuszewska , Michal Kabza , Robert Malinowski , Rafal Ploski , Jan Matysiak , Marzena Gajecka

Metagenomic search of viral coinfections in herpes simplex encephalitis patients.

Journal of neurovirology

Avec: Karol Perlejewski , Marek Radkowski , Małgorzata Rydzanicz , Tomasz Dzieciątkowski , Steffi Silling , Magdalena Wieczorek , Michał Makowiecki , Andrzej Horban , Tomasz Laskus

Genetic Spectrum of

Genes

Avec: Anna M Tracewska , Beata Kocyła-Karczmarewicz , Agnieszka Rafalska , Joanna Murawska , Joanna Jakubaszko-Jablonska , Małgorzata Rydzanicz , Piotr Stawiński , Elżbieta Ciara , Muhammad Imran Khan , Arjen Henkes , Alexander Hoischen , Christian Gilissen , Maartje van de Vorst , Frans P M Cremers , Rafał Płoski , Krystyna H Chrzanowska

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Journal of applied genetics

Avec: Patryk Lipiński , Piotr Stawiński , Małgorzata Rydzanicz , Maria Wypchło , Rafał Płoski , Teresa Joanna Stradomska , Elżbieta Jurkiewicz , Sacha Ferdinandusse , Ronald J A Wanders , Frederic M Vaz , Anna Tylki-Szymańska

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.

International journal of hematology

Avec: Andrzej Szczepaniak , Marcin Machnicki , Michał Gniot , Monika Pępek , Małgorzata Rydzanicz , Rafał Płoski , Maciej Kaźmierczak , Tomasz Stokłosa , Krzysztof Lewandowski

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Mitochondrion

Avec: Dorota Piekutowska-Abramczuk , Magdalena Kaliszewska , Anna Sułek , Natalia Jurkowska , Mariusz Ołtarzewski , Ewa Jabłońska , Joanna Trubicka , Aleksandra Głowacka , Elżbieta Ciara , Paweł Kowalski , Karolina Langiewicz-Wojciechowska , Marketa Tesarova , Jiri Zeman , Biruta Kierdaszuk , Dariusz Kuczyński , Dariusz Chmielewski , Edyta Szymańska , Agnieszka Bakuła , Anna Łusakowska , Marta Lipowska , Bogdan Brodacki , Joanna Pera , Małgorzata Dorobek , Małgorzata Rydzanicz , Rafał Płoski , Krystyna Halina Chrzanowska , Ewa Bartnik , Grzegorz Placha , Anna Kamińska , Anna Kostera-Pruszczyk , Małgorzata Krajewska-Walasek , Katarzyna Tońska , Ewa Pronicka

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.

European journal of human genetics : EJHG

Avec: Małgorzata Rydzanicz , Małgorzata Wachowska , Erik C Cook , Paweł Lisowski , Bożena Kuźniewska , Krystyna Szymańska , Sebastian Diecke , Alessandro Prigione , Krzysztof Szczałuba , 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

Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse.

Molecular neurobiology

Avec: Kalina Wiatr , Piotr Piasecki , Łukasz Marczak , Paweł Wojciechowski , Małgorzata Kurkowiak , Rafał Płoski , Małgorzata Rydzanicz , Luiza Handschuh , Johannes Jungverdorben , Oliver Brüstle , Marek Figlerowicz , Maciej Figiel

Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib.

European journal of haematology

Avec: Marcin M Machnicki , Patryk Górniak , Monika Pępek , Agnieszka Szymczyk , Elżbieta Iskierka-Jażdżewska , Paweł Steckiewicz , Aleksandra Bluszcz , Małgorzata Rydzanicz , Marek Hus , Rafał Płoski , Hanna Makuch-Łasica , Grażyna Nowak , Przemysław Juszczyński , Krzysztof Jamroziak , Tomasz Stokłosa , Bartosz Puła

Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus.

Translational vision science & technology

Avec: Dorota M Nowak-Malczewska , Justyna A Karolak , Joanna Swierkowska , Marcelina M Jaworska , Karolina I Kulinska , Piotr Polakowski , Rafal Ploski , Jacek P Szaflik , Marzena Gajecka

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the

Genes

Avec: Ewelina Wolańska , Agnieszka Pollak , Małgorzata Rydzanicz , Karolina Pesz , Magdalena Kłaniewska , Anna Rozensztrauch , Paweł Skiba , Piotr Stawiński , Rafał Płoski , Robert Śmigiel

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.

Journal of molecular medicine (Berlin, Germany)

Avec: Agnieszka Halas , Jolanta Fijak-Moskal , Renata Kuberska , Victor Murcia Pienkowski , Aneta Kaniak-Golik , Agnieszka Pollak , Jarosław Poznanski , Mirosław Bik-Multanowski , Ewa Sledziewska-Gojska , Rafał Płoski

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

American journal of medical genetics. Part A

Avec: Małgorzata Rydzanicz , Piotr Zwoliński , Piotr Gasperowicz , Agnieszka Pollak , Grażyna Kostrzewa , Anna Walczak , Magdalena Konarzewska , Rafał Płoski

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Molecular vision

Avec: Anna M Tracewska , Beata Kocyła-Karczmarewicz , Agnieszka Rafalska , Joanna Murawska , Joanna Jakubaszko-Jabłónska , Małgorzata Rydzanicz , Piotr Stawiński , Elżbieta Ciara , Beata S Lipska-Ziętkiewicz , Muhammad Imran Khan , Frans P M Cremers , Rafał Płoski , Krystyna H Chrzanowska

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment.

Diagnostics (Basel, Switzerland)

Avec: Przemysław Chmielewski , Grażyna Truszkowska , Ilona Kowalik , Małgorzata Rydzanicz , Ewa Michalak , Małgorzata Sobieszczańska-Małek , Maria Franaszczyk , Piotr Stawiński , Małgorzata Stępień-Wojno , Artur Oręziak , Michał Lewandowski , Przemysław Leszek , Maria Bilińska , Tomasz Zieliński , Rafał Płoski , Zofia T Bilińska

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Molecular genetics & genomic medicine

Avec: Magdalena Badura-Stronka , Robert Śmigiel , Karolina Rutkowska , Krystyna Szymańska , Adam Sebastian Hirschfeld , Michał Monkiewicz , Joanna Kosińska , Ewelina Wolańska , Małgorzata Rydzanicz , Anna Latos-Bieleńska , Rafał Płoski

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lucy Loong , Agostina Tardivo , Alexej Knaus , Mona Hashim , Alistair T Pagnamenta , Kerstin Alt , Helena Böhrer-Rabel , Alfonso Caro-Llopis , Trevor Cole , Felix Distelmaier , Patrick Edery , Carlos R Ferreira , Aleksandra Jezela-Stanek , Bronwyn Kerr , Gerhard Kluger , Peter M Krawitz , Marius Kuhn , Johannes R Lemke , Gaetan Lesca , Sally Ann Lynch , Francisco Martinez , Caroline Maxton , Hanna Mierzewska , Sandra Monfort , Joost Nicolai , Carmen Orellana , Deb K Pal , Rafał Płoski , Oliver W Quarrell , Monica Rosello , Małgorzata Rydzanicz , Ataf Sabir , Robert Śmigiel , Alexander P A Stegmann , Helen Stewart , Constance Stumpel , Elżbieta Szczepanik , Andreas Tzschach , Lynne Wolfe , Jenny C Taylor , Yoshiko Murakami , Taroh Kinoshita , Allan Bayat , Usha Kini

Case report: Variants in the

Frontiers in genetics

Avec: Joanna Kulikowska , Anna Jakubiuk-Tomaszuk , Małgorzata Rydzanicz , Rafał Płoski , Jan Kochanowicz , Alina Kulakowska , Katarzyna Kapica-Topczewska

Enteroviral central nervous system infections in patients with Lyme neuroborreliosis.

Ticks and tick-borne diseases

Avec: Karol Perlejewski , Marek Radkowski , Agnieszka Pawełczyk , Małgorzata Rydzanicz , Tomasz Dzieciątkowski , Michał Makowiecki , Marcin Paciorek , Renata Welc-Falęciak , Andrzej Horban , Tomasz Laskus

Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes.

Diabetologia

Avec: Marzena Gajecka , Pawel Gutaj , Katarzyna Jaskiewicz , Tomasz Szczapa , Dorota Kaminska , Grzegorz Kosewski , Juliusz Przyslawski , Rafal Ploski , Ewa Wender-Ozegowska

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

European journal of human genetics : EJHG

Avec: Karim Karimi , Denisa Weis , Ingvild Aukrust , Tzung-Chien Hsieh , Marie Horackova , Julie Paulsen , Roberto Mendoza Londono , Lucie Dupuis , Megan Dickson , Hellen Lesman , Tracy Lau , David Murphy , Khalid Hama Salih , Bassam M S Al-Musawi , Ruqayah G Y Al-Obaidi , Mateus Biela , Mafalda Saraiva Santos , Abdulrahman Aldeeri , Hanna T Gazda , Lynn Pais , Shirlee Shril , Henrik Døllner , Sandip Bartakke , Franco Laccone , Andrea Soltysova , Thomas Kitzler , Neveen A Soliman , Raissa Relator , Michael A Levy , Jennifer Kerkhof , Jessica Rzasa , Henry Houlden , Gabriela V Pilshofer , Tilman Jobst-Schwan , Friedhelm Hildebrandt , Sergio B Sousa , Reza Maroofian , Timothy W Yu , Peter Krawitz , Bekim Sadikovic , Sofia Douzgou Houge

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Marcin M Machnicki , Valeria Guglielmi , Elia Pancheri , Francesca Gualandi , Lorenzo Verriello , Katarzyna Pruszczyk , Joanna Kosinska , Antonella Sangalli , Maria Grazia Romanelli , Marcella Neri , Rafal Ploski , Paola Tonin , Giuliano Tomelleri , Tomasz Stoklosa , Gaetano Vattemi

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome.

Brain sciences

Avec: Magdalena Machnikowska-Sokołowska , Jacek Pilch , Justyna Paprocka , Małgorzata Rydzanicz , Agnieszka Pollak , Joanna Kosińska , Piotr Gasperowicz , Katarzyna Gruszczyńska , Ewa Emich-Widera , Rafał Płoski

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to

Journal of medical genetics

Avec: Victor Murcia Pienkowski , Marzena Kucharczyk , Marlena Młynek , Krzysztof Szczałuba , 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 , Rafał Płoski

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Clinical genetics

Avec: Justyna Paprocka , Aleksandra Jezela-Stanek , Agniesz Koppolu , Małgorzata Rydzanicz , Joanna Kosińska , Piotr Stawiński , Rafał Płoski

Primary progressive multiple sclerosis and neurofibromatosis type 1.

Multiple sclerosis and related disorders

Avec: Piotr Iwanowski , Marta Kowalska , Michał Prendecki , Jolanta Dorszewska , Wojciech Kozubski , Małgorzata Rydzanicz , Rafał Płoski , Jacek Losy

Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta.

Scientific data

Analysis of

Journal of clinical medicine

Avec: Maria Franaszczyk , Grazyna Truszkowska , Przemyslaw Chmielewski , Joanna Kosinska , Tomasz Rywik , Anna Biernacka , Mateusz Spiewak , Grazyna Kostrzewa , Malgorzata Stepien-Wojno , Piotr Stawinski , Maria Bilinska , Pawel Krajewski , Tomasz Zielinski , Anna Lutynska , Zofia T Bilinska , Rafal Ploski

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Journal of applied genetics

Avec: Krzysztof Szczałuba , Hanna Mierzewska , Robert Śmigiel , Joanna Kosińska , Agnieszka Koppolu , Anna Biernacka , Piotr Stawiński , Agnieszka Pollak , Małgorzata Rydzanicz , Rafał Płoski

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With

Frontiers in medicine

Avec: Justyna Paprocka , Magdalena Nowak , Maria Nieć , Izabela Janik , Małgorzata Rydzanicz , Śmigiel Robert , Magdalena Klaniewska , Karolina Rutkowska , Rafał Płoski , Aleksandra Jezela-Stanek

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with

Genes

Avec: Agnieszka Stembalska , Małgorzata Rydzanicz , Agnieszka Pollak , Grazyna Kostrzewa , Piotr Stawinski , Mateusz Biela , Rafal Ploski , Robert Smigiel

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

Genes

Avec: Ryszard Slezak , Robert Smigiel , Ewa Obersztyn , Agnieszka Pollak , Mateusz Dawidziuk , Wojciech Wiszniewski , Monika Bekiesinska-Figatowska , Rafal Ploski , Pawel Gawlinski

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

European journal of medical genetics

Avec: Marya Dushar , Jędrzej Nowaczyk , Beata Pyrżak , Hayane Akopyan , Robert Śmigiel , Anna Walczak , Małgorzata Rydzanicz , Rafał Płoski , Krzysztof Szczałuba

Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature.

PloS one

Avec: Renata Woroniecka , Grzegorz Rymkiewicz , Lukasz M Szafron , Katarzyna Blachnio , Laura A Szafron , Zbigniew Bystydzienski , Barbara Pienkowska-Grela , Klaudia Borkowska , Jolanta Rygier , Aleksandra Kotyl , Natalia Malawska , Katarzyna Wojtkowska , Joanna Parada , Anita Borysiuk , Victor Murcia Pienkowski , Beata Grygalewicz

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies

Frontiers in oncology

Avec: Marcin M Machnicki , Anna Rzepakowska , Joanna I Janowska , Monika Pepek , Alicja Krop , Katarzyna Pruszczyk , Piotr Stawinski , Jakub Grzybowski , Barbara Gornicka , Maciej Wnuk , Rafal Ploski , Ewa Osuch-Wojcikiewicz , Tomasz Stoklosa

Aicardi-Goutières Syndrome due to a

Molecular syndromology

Avec: Barbara Oleksy , Hanna Mierzewska , Jolanta Tryfon , Maria Wypchło , Krystyna Wasilewska , Zofia Zalewska-Miszkurka , Rafał Płoski , Małgorzata Rydzanicz , Elżbieta Szczepanik

Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation.

Frontiers in microbiology

Avec: Marcelina M Jaworska , Paulina Pecyna , Katarzyna Jaskiewicz , Małgorzata Rydzanicz , Malgorzata Kaluzna , Krzysztof Pawlaczyk , Rafal Ploski , Dorota M Nowak-Malczewska , Justyna A Karolak , Marzena Gajecka

Successful use of a phage endolysin for treatment of chronic pelvic pain syndrome/chronic bacterial prostatitis.

Frontiers in medicine

Avec: Roy H Stevens , Hongming Zhang , Michal Kajsik , Rafał Płoski , Peter Sabaka , Stanislav Šutovský

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Clinical genetics

Avec: Katarzyna Bzdęga , Mateusz Biela , Gail H Deutsch , Joseph A Kitzmiller , Małgorzata Rydzanicz , Rafał Płoski , Jeffrey A Whitsett , Robert Śmigiel , Justyna A Karolak

Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males.

EMBO molecular medicine

Avec: Małgorzata Rydzanicz , Bozena Kuzniewska , Marta Magnowska , Tomasz Wójtowicz , Aleksandra Stawikowska , Anna Hojka , Ewa Borsuk , Ksenia Meyza , Olga Gewartowska , Jakub Gruchota , Jacek Miłek , Patrycja Wardaszka , Izabela Chojnicka , Ludwika Kondrakiewicz , Dorota Dymkowska , Alicja Puścian , Ewelina Knapska , Andrzej Dziembowski , Rafał Płoski , Magdalena Dziembowska

DNA methylation dysregulation patterns in the 1p36 region instability.

Journal of applied genetics

Avec: Joanna Swierkowska-Janc , Michal Kabza , Maciej Giefing , Rafal Ploski , Lisa G Shaffer , Marzena Gajecka

Réseau de co-auteurs

Małgorzata Rydzanicz 59 collaborations

Rafał Płoski 49 collaborations

Rafal Ploski 23 collaborations

Piotr Stawiński 17 collaborations

Joanna Kosińska 14 collaborations

Marzena Gajecka 13 collaborations

Agnieszka Pollak 13 collaborations

Robert Śmigiel 10 collaborations

Victor Murcia Pienkowski 10 collaborations

Justyna A Karolak 9 collaborations

Piotr Gasperowicz 9 collaborations

Robert Smigiel 9 collaborations

Krzysztof Szczałuba 9 collaborations

Mateusz Biela 8 collaborations

Aleksandra Jezela-Stanek 7 collaborations

Agnieszka Koppolu 7 collaborations

Piotr Stawinski 6 collaborations

Anna Walczak 6 collaborations

Hanna Mierzewska 5 collaborations

Elżbieta Jurkiewicz 5 collaborations

Elżbieta Ciara 5 collaborations

Michal Kabza 5 collaborations

Jacek P Szaflik 5 collaborations

Karol Perlejewski 5 collaborations

Tomasz Dzieciątkowski 5 collaborations

Marek Radkowski 5 collaborations

Tomasz Laskus 5 collaborations

Katarzyna Jaskiewicz 5 collaborations

Anna Biernacka 5 collaborations

Anna Rozensztrauch 4 collaborations

Elżbieta Szczepanik 4 collaborations

Karolina Rutkowska 4 collaborations

Marcelina M Jaworska 4 collaborations

Agnieszka Stembalska 4 collaborations

Magdalena Klaniewska 4 collaborations

Grażyna Kostrzewa 4 collaborations

Dorota M Nowak-Malczewska 4 collaborations

Agnieszka Pawełczyk 4 collaborations

Tomasz Stokłosa 4 collaborations

Marcin M Machnicki 4 collaborations

Ewa Obersztyn 3 collaborations

Piotr Polakowski 3 collaborations

Iwona Bukowska-Ośko 3 collaborations

Marcin Paciorek 3 collaborations

Michał Makowiecki 3 collaborations

Marcin Machnicki 3 collaborations

Monika Pępek 3 collaborations

Marlena Młynek 3 collaborations

Paweł Krajewski 3 collaborations

Krystyna Chrzanowska 3 collaborations

Ryszard Slezak 3 collaborations

Małgorzata Krajewska-Walasek 3 collaborations

Joanna Kosinska 3 collaborations

Justyna Paprocka 3 collaborations

Alexej Knaus 2 collaborations

Peter Krawitz 2 collaborations

Szymon Zietkiewicz 2 collaborations

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Łukasz Paukszto 2 collaborations

Karol G Makowczenko 2 collaborations

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Gail H Deutsch 2 collaborations

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Anna Kostera-Pruszczyk 2 collaborations

Monika Gos 2 collaborations

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Tomasz Gambin 2 collaborations

James R Lupski 2 collaborations

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Wiktor Paskal 2 collaborations

Paweł K Włodarski 2 collaborations

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Anna M Tracewska 2 collaborations

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Maria Wypchło 2 collaborations

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None None 1 collaboration

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