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Chiara Palka

Observed names: C Palka, C. Palka, C. Palka Bayard de Volo, Chiara Palka Bayard De Volo, Chiara Palka Bayard de Volo, Chiara Palka-Bayard-de-Volo, Chiara Palka‐Bayard de Volo
Observed institutions: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Chieti-Pescara, Pediatrics and Genetics, Ospedale SS. Annunziata, Istituti di Ricovero e Cura a Carattere Scientifico, Sapienza University of Rome
ORCID: 0000-0003-3927-6277
Observed ORCID: 0000-0003-3927-6277
OpenAlex ID: A5011155748
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
2004 · E. Clementini, C. Palka, et al. · Human Reproduction · 152
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
2005 · Valentina Gatta, Oronzo Scarciolla, et al. · Human Genetics · 111
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
2006 · Oronzo Scarciolla, Liborio Stuppia, et al. · Neurogenetics · 66
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
2005 · Liborio Stuppia, Ivana Antonucci, et al. · European Journal of Human Genetics · 55
A New Case of Pure Partial 7q Duplication
2011 · M. Alfonsi, C. Palka, et al. · Cytogenetic and Genome Research · 47
Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment
2011 · Chiara Palka, Melissa Alfonsi, et al. · PEDIATRICS · 42
Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
2006 · Valentina Gatta, Ivana Antonucci, et al. · Journal of Human Genetics · 36
Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes
2007 · Laura Bernardini, Chiara Palka, et al. · American Journal of Medical Genetics Part A · 34
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome
2004 · Valentina Gatta, Oronzo Scarciolla, et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 25
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview
2021 · Giulia Sabbatinelli, Donatella Fantasia, et al. · Diagnostics · 20
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Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures
2015 · Alberto Verrotti, Chiara Palka, et al. · Cytogenetic and Genome Research · 15
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
2010 · C Palka, R Giuliani, et al. · Clinical Genetics · 15
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis
2017 · Paolo Guanciali Franchi, Chiara Palka, et al. · PLoS ONE · 12
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16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer
2012 · Chiara Palka Bayard de Volo, Melissa Alfonsi, et al. · Gene · 12
Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease
2005 · E Porreca, C Di Febbo, et al. · International Journal of Obesity · 12
Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women
2016 · Giuseppe Calabrese, Donatella Fantasia, et al. · Molecular Genetics & Genomic Medicine · 11
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Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
2014 · Valentina Gatta, Chiara Palka, et al. · BMC Medical Genetics · 11
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Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome
2008 · Florina Raicu, Rossella Giuliani, et al. · Asian Journal of Andrology · 11
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Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation
2012 · Chiara Palka-Bayard-de-Volo, Stefania De Marco, et al. · Gene · 10
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high‐risk pregnant women
2011 · Paolo Guanciali‐Franchi, Irene Iezzi, et al. · Prenatal Diagnosis · 10
Optimal cut‐offs for down syndrome contingent screening in a population of 10 156 pregnant women
2012 · Paolo Guanciali‐Franchi, Irene Iezzi, et al. · Prenatal Diagnosis · 8
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
2019 · Ilaria Catusi, Maria Paola Recalcati, et al. · Molecular Genetics & Genomic Medicine · 7
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Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation
2011 · C. Palka, M. Alfonsi, et al. · Molecular Syndromology · 7
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Cystic hygroma and mid-trimester maternal serum screening
2007 · Claudio Celentano, Federico Prefumo, et al. · Journal of Medical Screening · 7
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Non-invasive prenatal screening: A 20-year experience in Italy
2019 · Chiara Palka, Paolo Guanciali-Franchi, et al. · European Journal of Obstetrics & Gynecology and Reproductive Biology X · 5
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Works count: 44
Citation count: 771
H-index: 12
I10-index: 20
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