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J. Wierzba · SciRah

Researcher profile · Semantic Scholar

J. Wierzba

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J. Wierzba — researcher profile on SciRah

h-index: 26
Works: 137
Citations: 2,257

Most-cited papers

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
A. Kline, J. Moss, A. Selicorni, A. Bisgaard +39 more
2018Nature reviews genetics334 citations Open access
Semantic Scholar
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J. Kaiser, Morad Ansari, D. Braunholz, María Concepción Gil-Rodríguez +79 more
2014Human Molecular Genetics163 citations Open access
Semantic Scholar
Chédiak-Higashi syndrome
Nils Peters, Martin Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions128 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 citations Open access
Semantic Scholar
Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae
Iwona Jańczewska, J. Wierzba, Alicja Jańczewska, Małgorzata Szczurek-Gierczak +1 more
2023Children76 citations Open access
Semantic Scholar
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Michael D. Fountain, D. Oleson, M. Rech, Lara Segebrecht +52 more
2019Genetics in Medicine75 citations Open access
Semantic Scholar
Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology
A. Charzewska, J. Wierzba, E. Iżycka-Świeszewska, M. Bekiesińska-Figatowska +5 more
2016Clinical Genetics59 citations
Semantic Scholar
Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic
Agnieszka Sobierajska-Rek, Łukasz Mański, Joanna Jabłońska-Brudło, K. Śledzińska +2 more
2020Wiener Klinische Wochenschrift46 citations Open access
Semantic Scholar
Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction
I. Parenti, C. Gervasini, J. Pozojevic, K. Wendt +25 more
2016Clinical Genetics46 citations
Semantic Scholar
CHLAMYDIA INFECTION
N. Peters, M. Dichgans, S. Surendran, Josep M. Argilés +174 more
201845 citations
Semantic Scholar
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
E. Morava, J. Vodopiutz, D. Lefeber, A. Janecke +12 more
2012Pediatrics45 citations
Semantic Scholar
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
M. Gos, S. Fahiminiya, J. Poznanski, J. Klapecki +6 more
2014American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
Ferdy S. van Geest, Stefan Groeneweg, E. V. D. van den Akker, Iuliu Bacos +58 more
2021Journal of Clinical Endocrinology and Metabolism38 citations Open access
Semantic Scholar
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
D. Braunholz, Melanie A. Hullings, M. Gil-Rodríguez, Christopher T. Fincher +17 more
2011European Journal of Human Genetics37 citations Open access
Semantic Scholar
Arthrogryposis in infancy, multidisciplinary approach: case report
A. Binkiewicz-Glińska, Agnieszka Sobierajska-Rek, S. Bakuła, J. Wierzba +3 more
2013BMC Pediatrics36 citations Open access
Semantic Scholar
Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy
E. Wasilewska, S. Małgorzewicz, Agnieszka Sobierajska-Rek, Joanna Jabłońska-Brudło +4 more
2020Medicina31 citations Open access
Semantic Scholar
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland
B. Nedoszytko, A. Siemińska, Dominik Strapagiel, S. Dąbrowski +8 more
2017PLoS ONE31 citations Open access
Semantic Scholar
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
Dorota Piekutowska-Abramczuk, R. Olsen, J. Wierzba, E. Popowska +9 more
2010Journal of Inherited Metabolic Disease31 citations
Semantic Scholar
Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet - multi-centre study
Ewa Witalis, Bożena Mikołuć, Radosław Motkowski, J. Sawicka-Powierza +15 more
2017Nutrition and Metabolism29 citations Open access
Semantic Scholar
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
Magdalena Koczkowska, J. Wierzba, R. Śmigiel, M. Sąsiadek +6 more
2016Journal of Applied Genetics27 citations Open access
Semantic Scholar
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
M. Teresa-Rodrigo, Juliane Eckhold, B. Puisac, A. Dalski +14 more
2014International Journal of Molecular Sciences26 citations Open access
Semantic Scholar
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, L. Bird, D. Heron, B. Keren +20 more
2021American Journal of Medical Genetics. Part A23 citations Open access
Semantic Scholar
Crigler-Najjar syndrome
Nils Peters, Martin Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions21 citations Open access
Semantic Scholar
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
E. Pronicka, Dorota Piekutowska-Abramczuk, T. Szymańska-Dębińska, L. Bielecka +12 more
2013Mitochondrion (Amsterdam. Print)21 citations
Semantic Scholar
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
P. Grazioli, Chiara Parodi, M. Mariani, Daniele Bottai +13 more
2021Cell Death Discovery20 citations Open access
Semantic Scholar
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
J. Wierzba, M. Gil-Rodríguez, A. Polucha, B. Puisac +7 more
2012BMC Medical Genetics19 citations Open access
Semantic Scholar
Chronic Idiopathic Intestinal Pseudo-obstruction
N. Peters, M. Dichgans, S. Surendran, Josep M. Argilés +174 more
201119 citations
Semantic Scholar
Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters
E. Wernio, A. Kłosowska, A. Kuchta, Agnieszka Ćwiklińska +6 more
2022Nutrients16 citations Open access
Semantic Scholar
Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
Natalia Krawczyńska, J. Wierzba, B. Wasąg
2019Frontiers in Pediatrics16 citations Open access
Semantic Scholar
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
Z. Żuber, B. Kieć-Wilk, Ł. Kałużny, J. Wierzba +1 more
2023Biomedicines15 citations Open access
Semantic Scholar
Development and validation of a method for the simultaneous analysis of fatty acid ethyl esters, ethyl sulfate and ethyl glucuronide in neonatal meconium: application in two cases of alcohol consumption during pregnancy
M. Woźniak, Laura Banaszkiewicz, Justyna Aszyk, M. Wiergowski +4 more
2021Analytical and Bioanalytical Chemistry13 citations Open access
Semantic Scholar
Fetal Alcohol Spectrum Disorders – Diagnostic Difficulties in The Neonatal Period and New Diagnostic Approaches
Iwona Jańczewska, J. Wierzba, Monika Cichoń-Kotek, Alicja Jańczewska
2019Developmental Period Medicine13 citations
Semantic Scholar
Relationship between growth and intelligence quotient in children with Down syndrome.
A. Kłosowska, A. Kuchta, Agnieszka Ćwiklińska, K. Sałaga-Zaleska +6 more
2021Translational Pediatrics12 citations Open access
Semantic Scholar
Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency
Anna Hogendorf, Maciej Zieliński, M. Constantinou, R. Śmigiel +18 more
2021Frontiers in Immunology11 citations Open access
Semantic Scholar
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
Alina Kuźniacka, J. Wierzba, M. Ratajska, B. Lipska +3 more
2012Journal of Applied Genetics11 citations Open access
Semantic Scholar
8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
B. Lipska, M. Brzeskwiniewicz, J. Wierzba, L. Morzuchi +2 more
2011Genetic Counseling11 citations
Semantic Scholar
Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey
E. Wasilewska, Agnieszka Sobierajska-Rek, K. Śledzińska, S. Małgorzewicz +2 more
2021International Journal of Environmental Research and Public Health10 citations Open access
Semantic Scholar
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
Karolina Pierzynowska, Arkadiusz Mański, Monika Limanówka, J. Wierzba +3 more
2020Molecular Genetics & Genomic Medicine10 citations Open access
Semantic Scholar
Phenylketonuria patients’ and their parents’ acceptance of the disease: multi-centre study
Ewa Witalis, Bożena Mikołuć, Radosław Motkowski, J. Szyszko +13 more
2016Quality of Life Research10 citations Open access
Semantic Scholar
Arthrogryposis multiplex congenital - multidisciplinary care - including own experience.
A. Binkiewicz-Glińska, J. Wierzba, E. Szurowska, Katarzyna Ruckeman-Dziurdzińska +3 more
2016Developmental Period Medicine10 citations
Semantic Scholar
Chylomicron retention disease
Nils Peters, M. Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions9 citations Open access
Semantic Scholar
Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)
A. Materna-Kiryluk, K. Wiśniewska, B. Więckowska, J. Wierzba +4 more
2021Children8 citations Open access
Semantic Scholar
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Natalia Krawczyńska, Alina Kuźniacka, J. Wierzba, I. Parenti +2 more
2018Frontiers in Genetics8 citations Open access
Semantic Scholar
Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
E. Kaczorowska, J. Zimowski, Monika Cichoń-Kotek, A. Mrozińska +4 more
2016Developmental Period Medicine8 citations
Semantic Scholar
On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma
B. Lipska, Magdalena Koczkowska, J. Wierzba, A. Płoszyńska +4 more
2013Molecular Cytogenetics8 citations Open access
Semantic Scholar
Clinical presentation of 13 children with alkaptonuria
M. Kujawa, D. Świętoń, J. Wierzba, M. Grzywińska +14 more
2023Journal of Inherited Metabolic Disease7 citations
Semantic Scholar
Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.
J. Wierzba, M. Mazurkiewicz-Bełdzińska, Joanna Jabłońska-Brudło, P. Potaż +1 more
2015Developmental Period Medicine7 citations
Semantic Scholar
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
A. Jakubiak, K. Szczałuba, M. Badura-Stronka, A. Kutkowska-Kaźmierczak +15 more
2021Journal of Applied Genetics6 citations Open access
Semantic Scholar
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Natalia Krawczyńska, J. Wierzba, Jacek Jasiecki, B. Wasąg
2019BMC Medical Genetics6 citations Open access
Semantic Scholar
Long-term clinical effects of enzyme replacement therapy in MPS II
M. Bik-Multanowski, E. Jamroz, L. Kaluzny, E. Pronicka +5 more
20175 citations Open access
Semantic Scholar

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