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J. Klapecki · SciRah

Researcher profile · Semantic Scholar

J. Klapecki

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J. Klapecki — researcher profile on SciRah

h-index: 9
Works: 18
Citations: 636

Most-cited papers

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
J. Van Houdt, B. Nowakowska, S. Sousa, B. V. van Schaik +45 more
2012Nature Genetics245 citations
Semantic Scholar
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
A. Gregor, B. Albrecht, I. Bader, E. Bijlsma +17 more
2011BMC Medical Genetics129 citations Open access
Semantic Scholar
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
M. Bartnik, B. Nowakowska, K. Derwinska, B. Wiśniowiecka-Kowalnik +16 more
2013Journal of Applied Genetics49 citations Open access
Semantic Scholar
Novel mutation of IL1RAPL1 gene in a nonspecific X‐linked mental retardation (MRX) family
M. Nawara, J. Klapecki, K. Borg, M. Jurek +5 more
2008American Journal of Medical Genetics. Part A49 citations
Semantic Scholar
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
G. Uyanik, D. Morris-Rosendahl, J. Stiegler, J. Klapecki +33 more
2007Neurology49 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
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
M. Bartnik, B. Wiśniowiecka-Kowalnik, B. Nowakowska, M. Smyk +10 more
2014Developmental Period Medicine31 citations
Semantic Scholar
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
A. Kutkowska-Kaźmierczak, M. Boczar, E. Kalka, Jennifer Castañeda +23 more
2021Genes15 citations Open access
Semantic Scholar
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.
K. Szczałuba, B. Nowakowska, K. Sobecka, M. Smyk +7 more
2016Advances in Experimental Medicine and Biology14 citations
Semantic Scholar
Anatomy of the posterior communicating artery--preliminary report.
J. Klapecki, E. Pacholec, B. Ciszek
1996Folia Morphologica5 citations
Semantic Scholar
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss
Katarzyna Niepokój, A. Rygiel, K. Wertheim-Tysarowska, J. Sawicka +17 more
2025Journal of Applied Genetics2 citations Open access
Semantic Scholar
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
K. Wertheim-Tysarowska, Katarzyna Osipowicz, K. Woźniak, J. Sawicka +40 more
2024Orphanet Journal of Rare Diseases2 citations Open access
Semantic Scholar
Novel and recurrent genetic variants associated with male and female infertility
Katarzyna Jankowska, A. Kutkowska-Kaźmierczak, Klaudia Ślusarczyk, Alicja Domaszewicz +8 more
2025Journal of Applied Genetics1 citations Open access
Semantic Scholar
In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer.
A. Stembalska, J. Klapecki, A. Pławski, P. Karpiński
2019European Journal of Obstetrics, Gynecology, and Reproductive Biology1 citations
Semantic Scholar
Anatomy of the anterior choroidal artery--clinically orientated study.
E. Pacholec, J. Klapecki, B. Ciszek, W. Mazurowski +2 more
1996Folia Morphologica1 citations
Semantic Scholar
[Variability in clinical expression of Noonan syndrome--the report of two familial cases].
J. Klapecki, E. Obersztyn, Mikołaj Łaniewski-Wołłk, A. Szpecht-Potocka +1 more
2008Wiadomosci lekarskie0 citations
Semantic Scholar
[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].
J. Klapecki, E. Obersztyn, Mikolaj Laniewski-Wollk, A. Szpecht-Potocka +1 more
2006Developmental Period Medicine0 citations
Semantic Scholar
[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
E. Obersztyn, J. Klapecki, Z. Hélias-Rodzewicz, E. Bocian +1 more
2006Developmental Period Medicine0 citations
Semantic Scholar

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