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Article
2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M. J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Guillen Sacoto, M. J., van Haelst, M. M., Iossifov, I., Jackson, J. L. & 30 others, Judd, E., Kaiwar, C., Keren, B., Klee, E. W., Klein Wassink-Ruiter, J. S., Meuwissen, M. E., Monaghan, K. G., de Munnik, S. A., Nava, C., Ockeloen, C. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. R., Schnur, R. E., Smeets, E. J., Stegmann, A. P. A., Stray-Pedersen, A., Sweetser, D. A., Terhal, P. A., Tveten, K., VanNoy, G. E., de Vries, P. F., Waxler, J. L., Willing, M., Pfundt, R., Veltman, J. A., Kooy, R. F. & Vissers, L. E. L. M., Jan 24 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 30 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Nickerson, D. A., Bamshad, M. J., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Büttner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M. & Sartori, S., Dec 1 2019, In : Nature Communications. 10, 1, 4679.

Research output: Contribution to journalArticle

Open Access
2018

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

2017

7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder

Castiglia, L., Husain, R. A., Marquardt, I., Fink, C., Liehr, T., Elia, M. & Coci, E. G., Dec 20 2017, In : Journal of Intellectual Disability Research.

Research output: Contribution to journalArticle

2016

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

2014

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Grillo, L., Greco, D., Pettinato, R., Avola, E., Potenza, N., Castiglia, L., Spalletta, A., Amata, S., Di Benedetto, D., Luciano, D., Romano, C. & Fichera, M., Jan 25 2014, In : Gene. 534, 2, p. 435-439 5 p.

Research output: Contribution to journalArticle

2013

6p22.3 deletion: Report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Di Benedetto, D., Di Vita, G., Romano, C., Lo Giudice, M., Vitello, G. A., Zingale, M., Grillo, L., Castiglia, L., Musumeci, S. A. & Fichera, M., Jan 17 2013, (Accepted/In press) In : Molecular Cytogenetics. p. 4 1 p.

Research output: Contribution to journalArticle

2010

An unusual presentation of Becker Nevus

Schepis, C., Lentini, M., Failla, P., Castiglia, L., Fichera, M. & Romano, C., Jul 2010, In : European Journal of Dermatology. 20, 4, p. 522-523 2 p.

Research output: Contribution to journalArticle

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

Barresi, V., Ragusa, A., Fichera, M., Musso, N., Castiglia, L., Rappazzo, G., Travali, S., Mattina, T., Romano, C., Cocchi, G. & Condorelli, D. F., 2010, In : BMC Medical Genomics. 3, 28.

Research output: Contribution to journalArticle

2009

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Giorda, R., Bonaglia, M. C., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F. H., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S. A., Vitello, G. A., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P. & 14 others, Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S. A., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., Bernardina, B. D. & Zuffardi, O., Sep 11 2009, In : American Journal of Human Genetics. 85, 3, p. 394-400 7 p.

Research output: Contribution to journalArticle

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females (DOI: 10.1016/j.ajhg.2009.08.001)

Giorda, R., Bonaglia, M. C., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F. H., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S. A., Vitello, G. A., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P. & 14 others, Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S. A., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O., Sep 11 2009, In : American Journal of Human Genetics. 85, 3, p. 419 1 p.

Research output: Contribution to journalArticle

Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

Lo-Castro, A., Giana, G., Fichera, M., Castiglia, L., Grillo, L., Musumeci, S. A., Galasso, C. & Curatolo, P., Jan 2009, In : European Journal of Medical Genetics. 52, 1, p. 67-70 4 p.

Research output: Contribution to journalArticle

2008

12q12 deletion: A new patient contributing to genotype-phenotype correlation

Failla, P., Romano, C., Reitano, S., Di Benedetto, D., Grillo, L., Fichera, M. & Castiglia, L., May 15 2008, In : American Journal of Medical Genetics, Part A. 146, 10, p. 1354-1357 4 p.

Research output: Contribution to journalArticle

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., Broomer, A., Casuga, I., Wang, Y., Xiao, C., Barbacioru, C., Gimelli, G., Bernardina, B. D., Torniero, C., Giorda, R., Regan, R. & 14 others, Murday, V., Mansour, S., Fichera, M., Castiglia, L., Failla, P., Ventura, M., Jiang, Z., Cooper, G. M., Knight, S. J. L., Romano, C., Zuffardi, O., Chen, C., Schwartz, C. E. & Eichler, E. E., Mar 2008, In : Nature Genetics. 40, 3, p. 322-328 7 p.

Research output: Contribution to journalArticle

Three new patients with dup(17)(p11.2p11.2) without autism [3]

Greco, D., Romano, C., Reitano, S., Barone, C., Benedetto, D. D., Castiglia, L., Fichera, M., Galesi, O., Zingale, M., Buono, S., Uliana, V., Caselli, R., Canitano, R., Hayek, G. & Renieri, A., Feb 2008, In : Clinical Genetics. 29, 3, p. 294-296 3 p.

Research output: Contribution to journalArticle

2007

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q [4]

Failla, P., Romano, C., Alberti, A., Vasta, A., Buono, S., Castiglia, L., Luciano, D., Di Benedetto, D., Fichera, M. & Galesi, O., Jun 2007, In : Clinical Genetics. 71, 6, p. 599-601 3 p.

Research output: Contribution to journalArticle

2006

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases

Elia, M., Striano, P., Fichera, M., Gaggero, R., Castiglia, L., Galesi, O., Malacarne, M., Pierluigi, M., Amato, C., Musumeci, S. A., Romano, C., Majore, S., Grammatico, P., Zara, F., Striano, S. & Faravelli, F., May 2006, In : Epilepsia. 47, 5, p. 830-838 9 p.

Research output: Contribution to journalArticle

La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare

Translated title of the contribution: 6q terminal deletion: An emerging syndrome associated to a peculiar clinical and electroencephalographic pictureStriano, P., Coppola, A., Gaggero, R., Mancardi, M., Nicolella, E., Errichiello, L., Castiglia, L., Galesi, O., Malacarne, M., Pierluigi, M., Amato, C., Rinaldi, M. M., Pintaudi, M., Musumeci, S. A., Majore, S., Grammatico, P., Fichera, M., Faravelli, F., Striano, S. & Elia, M., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 101-102 2 p.

Research output: Contribution to journalArticle

2005

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism [1]

Striano, P., Elia, M., Castiglia, L., Galesi, O., Pelligra, S. & Striano, S., Aug 2005, In : Epilepsia. 46, 8, p. 1322-1324 3 p.

Research output: Contribution to journalArticle

Epilessia parziale, ritardo mentale e tratti dismorfici in una translocazione de novo t(4;9)(q34;p22) con interruzione del gene MLLT3

Translated title of the contribution: Partial epilepsy, mental retardation and multiple malformative features. One patient with a de novo balanced traslocation (4;9) determining interruption of the MLLT3 geneCoppola, A., Striano, P., Castiglia, L., Galesi, O., Pelligra, S., Elia, M. & Striano, S., 2005, In : Bollettino - Lega Italiana contro l'Epilessia. 129-130, p. 159-160 2 p.

Research output: Contribution to journalArticle

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results (multiple letters)

Castiglia, L., Fichera, M., Romano, C., Galesi, O., Grillo, L., Sturnio, M., Failla, P., Klaassens, M., Tibboel, D., Oostra, B. A. & De Klein, A., Nov 2005, In : American Journal of Human Genetics. 77, 5, p. 892-895 4 p.

Research output: Contribution to journalArticle

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation [5]

Fichera, M., Falco, M., Lo Giudice, M., Castiglia, L., Guarnaccia, V., Calì, F., Spalletta, A., Scuderi, C., Avola, E. & Romano, C., May 2005, In : Clinical Genetics. 67, 5, p. 446-447 2 p.

Research output: Contribution to journalArticle

2003

Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+IG>A mutation: Role of the β-globin gene haplotype

Ragusa, A., Amata, S., Lombardo, T., Castiglia, L., Maier-Redelsperger, M., Labie, D. & Bernini, L., Oct 2003, In : Haematologica. 88, 10, p. 1099-1105 7 p.

Research output: Contribution to journalArticle

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome

Borgione, E., Sturnio, M., Spalletta, A., Giudice, M. A. L., Castiglia, L., Galesi, O., Ragusa, A. & Fichera, M., 2003, In : Human Mutation. 21, 5, p. 529-534 6 p.

Research output: Contribution to journalArticle

2001

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations [9]

Rossi, E., Piccini, F., Zollino, M., Neri, G., Caselli, D., Tenconi, R., Castellan, C., Carrozzo, R., Danesino, C., Zuffardi, O., Ragusa, A., Castiglia, L., Galesi, O., Greco, D., Romano, C., Pierluigi, M., Perfumo, C., Di Rocco, M., Faravelli, F., Bricarelli, F. D. & 3 others, Bonaglia, M. C., Bedeschi, M. F. & Borgatti, R., 2001, In : Journal of Medical Genetics. 38, 6, p. 417-420 4 p.

Research output: Contribution to journalArticle

2000

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

Friez, M. J., Essop, F. B., Krause, A., Castiglia, L., Ragusa, A., Sossey-Alaoui, K., Nelson, R. L., May, M. M., Michaelis, R. C., Srivastava, A. K., Schwartz, C. E., Stevenson, R. E., Goldman, A., Villard, L. & Longshore, J. W., 2000, In : Human Genetics. 106, 1, p. 36-39 4 p.

Research output: Contribution to journalArticle

1999

Genetic variations in human fetal globin gene microsatellites and their functional relevance

Lapoumeroulie, C., Castiglia, L., Ruberto, C., Fichera, M., Amata, S., Labie, D. & Ragusa, A., 1999, In : Human Genetics. 104, 4, p. 307-314 8 p.

Research output: Contribution to journalArticle

1998

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera, M., Romano, C., Castiglia, L., Failla, P., Ruberto, C., Amata, S., Greco, D., Cardoso, C., Fontés, M. & Ragusa, A., 1998, In : Human Mutation. 12, 3, p. 214 1 p.

Research output: Contribution to journalArticle