1981 …2020

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Article
2020

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., Jan 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e1056.

Research output: Contribution to journalArticle

Open Access
2019

Fetal RHD detection from circulating cell-free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA

Londero, D., Stampalija, T., Bolzicco, D., Castro Silva, E., Candolini, M., Cortivo, C., Dreossi, C., Fantasia, I., Pecile, V. & De Angelis, V., Dec 1 2019, In : Transfusion Medicine. 29, 6, p. 408-414 7 p.

Research output: Contribution to journalArticle

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

Bottega, R., Perrone, M. D., Vecchiato, K., Taddio, A., Sabui, S., Pecile, V., Said, H. M. & Faletra, F., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1075-1081 7 p.

Research output: Contribution to journalArticle

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

Garzo, M., Catusi, I., Colombo, D. M., De Grada, L., Recalcati, M. P., Rodeschini, O., Barone, C., Beltrami, N., Busuito, R., Cappellani, S., Ciaschini, A. M., Gulisano, A., Malpezzi, E., Pecile, V., Pittalis, M. C., Romitti, L., Stioui, S., Larizza, L. & Giardino, D., Jan 1 2019, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., 2019, In : Molecular genetics & genomic medicine. 8, 1

Research output: Contribution to journalArticle

2018

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 others, Fabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D'Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

De novo unbalanced translocations have a complex history/aetiology

Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, D., Pecile, V., Novara, F., Reho, P., Di Giacomo, M. C., Discepoli, G., Giorda, R., Aldred, M. A., Santos-Rebouças, C. B., Goncalves, A. P., Abuelo, D. N., Giglio, S., Ricca, I. & 7 others, Franchi, F., Patsalis, P., Sismani, C., Morí, M. A., Nevado, J., Tommerup, N. & Zuffardi, O., Oct 2018, In : Human Genetics. 137, 10, p. 817-829 13 p.

Research output: Contribution to journalArticle

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan, A., Lenarduzzi, S., Cappellani, S., Pecile, V., Morgutti, M., Orzan, E., Ghiselli, S., Ambrosetti, U., Brumat, M., Gajendrarao, P., Bianca, M. L., Faletra, F., Grosso, E., Sirchia, F., Sensi, A., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., 2018, In : Frontiers in Genetics. 2018 Dec 21, 9:681, p. 681

Research output: Contribution to journalArticle

Open Access

Rothmund-Thomson syndrome

Colombo, E. A., Locatelli, A., Sánchez, L. C., Romeo, S., Elcioglu, N. H., Maystadt, I., Martínez, A. E., Sironi, A., Fontana, L., Finelli, P., Gervasini, C., Pecile, V. & Larizza, L., Apr 6 2018, In : International Journal of Molecular Sciences. 19, 4

Research output: Contribution to journalArticle

Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome

Colombo, E. A., Locatelli, A., Sánchez, L. C., Romeo, S., Elcioglu, N. H., Maystadt, I., Martínez, A. E., Sironi, A., Fontana, L., Finelli, P., Gervasini, C., Pecile, V. & Larizza, L., Apr 6 2018, In : International Journal of Molecular Sciences. 19, 4, 1103.

Research output: Contribution to journalArticle

2017

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

Villa, N., Conconi, D., Benussi, D. G., Tornese, G., Crosti, F., Sala, E., Dalprà, L., Dalprà, L. & Pecile, V., Jun 13 2017, In : Molecular Cytogenetics. 10, 1

Research output: Contribution to journalArticle

A novel OTOA mutation in an Italian family with hearing loss

Fontana, P., Morgutti, M., Pecile, V., Lenarduzzi, S., Cappellani, S., Falco, M., Scarano, F. & Lonardo, F., Dec 1 2017, In : Gene Reports. 9, p. 111-114 4 p.

Research output: Contribution to journalArticle

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Travan, L., Naviglio, S., De Cunto, A., Pellegrin, A., Pecile, V., Spinelli, A. M., Cappellani, S. & Faletra, F., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1970-1974 5 p.

Research output: Contribution to journalArticle

2016

A case of prenatal neurocytoma associated with ATR-16 syndrome

Quadrifoglio, M. C., Faletra, F., Bussani, R., Pecile, V., Zennaro, F., Grasso, A., Zandonà, L., Alberico, S. & Stampalija, T., Jun 1 2016, In : Journal of Ultrasound in Medicine. 35, 6, p. 1359-1361 3 p.

Research output: Contribution to journalArticle

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M. R., Sirchia, S. M., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 others, Ferrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M., Sirchia, S., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 others, Ferrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M. R., Sirchia, S. M., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 others, Ferrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype

Rocca, M. S., Pecile, V., Cleva, L., Speltra, E., Selice, R., Di Mambro, A., Foresta, C. & Ferlin, A., Mar 1 2016, In : Andrology. 4, 2, p. 328-334 7 p.

Research output: Contribution to journalArticle

2015

Clinical and molecular cytogenetic characterisation of children with developmental delay and dysmorphic features

Bertok, S., Tanšek, M. Ž., Kotnik, P., Battelino, T., Volk, M., Pecile, V., Cleva, L., Gasparini, P., Kovac, J. & Hovnik, T., 2015, In : Zdravstveno Varstvo. 54, 2, p. 69-73 5 p.

Research output: Contribution to journalArticle

CTNND2 deletion and intellectual disability

Belcaro, C., Dipresa, S., Morini, G., Pecile, V., Skabar, A. & Fabretto, A., Jul 1 2015, In : Gene. 565, 1, p. 146-149 4 p.

Research output: Contribution to journalArticle

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Gandin, I., Faletra, F., Faletra, F., Carella, M., Pecile, V., Ferrero, G. B., Biamino, E., Palumbo, P., Palumbo, O., Bosco, P., Romano, C., Belcaro, C., Vozzi, D. & D'Adamo, A. P., May 8 2015, In : Genetics in Medicine. 17, 5, p. 396-399 4 p.

Research output: Contribution to journalArticle

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology

Nicchia, E., Greco, C., De Rocco, D., Pecile, V., D'Eustacchio, A., Cappelli, E., Corti, P., Marra, N., Ramenghi, U., Pillon, M., Farruggia, P., Dufour, C., Pallavicini, A., Torelli, L. & Savoia, A., Nov 2015, In : Molecular genetics & genomic medicine. 3, 6, p. 500-12 13 p.

Research output: Contribution to journalArticle

When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication

Travan, L., Rocca, M. S., Buonomo, F., Cleva, L., Pecile, V. & De Cunto, A., Oct 2 2015, In : Journal of Investigative Medicine High Impact Case Reports. 3, 1, p. 2324709615574949

Research output: Contribution to journalArticle

2014

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Rubinato, E., Morgan, A., D'Eustacchio, A., Pecile, V., Gortani, G., Gasparini, P. & Faletra, F., Jul 25 2014, In : Gene. 545, 2, p. 290-292 3 p.

Research output: Contribution to journalArticle

Glioma-associated stem cells: A novel class of tumor-supporting cells able to predict prognosis of human low-grade gliomas

Bourkoula, E., Mangoni, D., Ius, T., Pucer, A., Isola, M., Musiello, D., Marzinotto, S., Toffoletto, B., Sorrentino, M., Palma, A., Caponnetto, F., Gregoraci, G., Vindigni, M., Pizzolitto, S., Falconieri, G., De Maglio, G., Pecile, V., Ruaro, M. E., Gri, G., Parisse, P. & 6 others, Casalis, L., Scoles, G., Skrap, M., Beltrami, C. A., Beltrami, A. P. & Cesselli, D., 2014, In : Stem Cells. 32, 5, p. 1239-1253 15 p.

Research output: Contribution to journalArticle

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Disciglio, V., Rizzo, C. L., Mencarelli, M. A., Mucciolo, M., Marozza, A., Di Marco, C., Massarelli, A., Canocchi, V., Baldassarri, M., Ndoni, E., Frullanti, E., Amabile, S., Anderlid, B. M., Metcalfe, K., Le Caignec, C., David, A., Fryer, A., Boute, O., Joris, A., Greco, D. & 7 others, Pecile, V., Battini, R., Novelli, A., Fichera, M., Romano, C., Mari, F. & Renieri, A., 2014, In : American Journal of Medical Genetics, Part A. 164, 7, p. 1666-1676 11 p.

Research output: Contribution to journalArticle

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Athanasakis, E., Licastro, D., Faletra, F., Fabretto, A., Dipresa, S., Vozzi, D., Morgan, A., D'Adamo, A. P., Pecile, V., Biarnés, X. & Gasparini, P., Jan 2014, In : American Journal of Medical Genetics, Part A. 164, 1, p. 170-176 7 p.

Research output: Contribution to journalArticle

2013

TRAPPC9-related autosomal recessive intellectual disability: Report of a new mutation and clinical phenotype

Marangi, G., Leuzzi, V., Manti, F., Lattante, S., Orteschi, D., Pecile, V., Neri, G. & Zollino, M., Feb 2013, In : European Journal of Human Genetics. 21, 2, p. 229-232 4 p.

Research output: Contribution to journalArticle

2012

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12

Rocca, M. S., Fabretto, A., Faletra, F., Carlet, O., Skabar, A., Gasparini, P. & Pecile, V., Jan 15 2012, In : Gene. 492, 1, p. 315-318 4 p.

Research output: Contribution to journalArticle

De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

Fabretto, A., Rocca, M. S., Perrone, M. D., Skabar, A., Pecile, V. & Gasparini, P., Apr 2012, In : American Journal of Medical Genetics, Part A. 158 A, 4, p. 882-887 6 p.

Research output: Contribution to journalArticle

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

Perrone, M. D., Rocca, M. S., Bruno, I., Faletra, F., Pecile, V. & Gasparini, P., Feb 2012, In : European Journal of Medical Genetics. 55, 2, p. 117-119 3 p.

Research output: Contribution to journalArticle

Microarray application in prenatal diagnosis: A position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

Novelli, A., Grati, F. R., Ballarati, L., Bernardini, L., Bizzoco, D., Camurri, L., Casalone, R., Cardarelli, L., Cavalli, P., Ciccone, R., Clementi, M., Dalprà, L., Gentile, M., Gelli, G., Grammatico, P., Malacarne, M., Nardone, A. M., Pecile, V., Simoni, G., Zuffardi, O. & 1 others, Giardino, D., Apr 2012, In : Ultrasound in Obstetrics and Gynecology. 39, 4, p. 384-388 5 p.

Research output: Contribution to journalArticle

Reply

Novelli, A., Grati, F. R., Ballarati, L., Bernardini, L., Bizzoco, D., Camurri, L., Casalone, R., Cardarelli, L., Cavalli, P., Ciccone, R., Clementi, M., Dalprà, L., Gentile, M., Gelli, G., Grammatico, P., Malacarne, M., Nardone, A. M., Pecile, V., Simoni, G., Zuffardi, O. & 1 others, Giardino, D., May 2012, In : Ultrasound in Obstetrics and Gynecology. 39, 5, p. 604-606 3 p.

Research output: Contribution to journalArticle

2010

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Zollino, M., Orteschi, D., Marangi, G., De Crescenzo, A., Pecile, V., Riccio, A. & Neri, G., Jun 2010, In : Journal of Medical Genetics. 47, 6, p. 429-432 4 p.

Research output: Contribution to journalArticle

Erratum: The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype (European Journal of Human Genetics (2010) 18 (163-170) DOI: 10.1038/ejhg.2009.152)

Van Bon, B. W. M., Koolen, D. A., Brueton, L., McMullan, D., Lichtenbelt, K. D., Adès, L. C., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Bernardina, B. D., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R. & 12 others, De Brouwer, A. P., Veltman, J. A., De Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H. G., Zuffardi, O. & De Vries, B. B. A., Oct 2010, In : European Journal of Human Genetics. 18, 10, p. 1171 1 p.

Research output: Contribution to journalArticle

Erratum: The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype (European Journal of Human Genetics (2009) DOI: 10.1038/ejhg.2009.152)

Van Bon, B. W. M., Koolen, D. A., Brueton, L., McMullan, D., Lichtenbelt, K. D., Adès, L. C., Peters, G., Gibson, K., Novara, F., Pramparo, T., Bernardina, B. D., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., De Brouwer, A. P. & 11 others, Veltman, J. A., De Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H. G., Zuffardi, O. & De Vries, B. B. A., Feb 2010, In : European Journal of Human Genetics. 18, 2, p. 170 1 p.

Research output: Contribution to journalArticle

The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype

Van Bon, B. W. M., Koolen, D. A., Brueton, L., McMullan, D., Lichtenbelt, K. D., Adès, L. C., Peters, G., Gibson, K., Novara, F., Pramparo, T., Bernardina, B. D., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., De Brouwer, A. P. & 11 others, Veltman, J. A., De Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H. G., Zuffardi, O. & De Vries, B. B. A., Feb 2010, In : European Journal of Human Genetics. 18, 2, p. 163-170 8 p.

Research output: Contribution to journalArticle

2009

1q44-qter trisomy: clinical report and review of the literature.

Lenzini, E., Ballarati, L., Drigo, P., Carrozzi, M., Gambel-Benussi, D., Giardino, D., Petix, V., Rizzotto, M. R. & Pecile, V., Feb 2009, In : Genetic Testing and Molecular Biomarkers. 13, 1, p. 79-86 8 p.

Research output: Contribution to journalArticle

Alopecia bitemporale e strie di iperpigmentazione in lattante con ritardo psicomotorio

Translated title of the contribution: Bitemporal alopecia and streaks of hyper-pigmentation in an infant with mental retardationCiana, G., Fertz, M. C., Sanesi, C., Demarini, S., Petix, V. & Pecile, V., Mar 2009, In : Medico e Bambino. 28, 3, p. 190 1 p.

Research output: Contribution to journalArticle

De novo balanced chromosome rearrangements in prenatal diagnosis

Giardino, D., Corti, C., Ballarati, L., Colombo, D., Sala, E., Villa, N., Piombo, G., Pierluigi, M., Faravelli, F., Guerneri, S., Coviello, D., Lalatta, F., Cavallari, U., Bellotti, D., Barlati, S., Croci, G., Franchi, F., Savin, E., Nocera, G., Amico, F. P. & 30 others, Granata, P., Casalone, R., Nutini, L., Lisi, E., Torricelli, F., Giussani, U., Facchinetti, B., Guanti, G., Giacomo, M. D., Susca, F. P., Pecile, V., Romitti, L., Cardarelli, L., Racalbuto, E., Police, M. A., Chiodo, F., Rodeschini, O., Falcone, P., Donti, E., Grimoldi, M. G., Martinoli, E., Stioui, S., Caufin, D., Lauricella, S. A., Tanzariello, S. A., Voglino, G., Lenzini, E., Besozzi, M., Larizza, L. & Dalpra, L., Mar 2009, In : Prenatal Diagnosis. 29, 3, p. 257-265 9 p.

Research output: Contribution to journalArticle

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication

Parentin, F., Fabretto, A., Benussi, D. G., Petix, V., Marchetti, F., Dalpr, L., Redaelli, S., Pensiero, S. & Pecile, V., 2009, In : Ophthalmic Genetics. 30, 2, p. 103-105 3 p.

Research output: Contribution to journalArticle