• 4832 Citations
  • 28 h-Index
19972019
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Research Output 1997 2019

  • 4832 Citations
  • 28 h-Index
  • 98 Article
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Article
2019
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
2 Citations (Scopus)

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Cellini, E., Vetro, A., Conti, V., Marini, C., Doccini, V., Clementella, C., Parrini, E., Giglio, S., Della Monica, M., Fichera, M., Musumeci, S. A. & Guerrini, R., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Periventricular Nodular Heterotopia
Genetic Heterogeneity
Genes
Malformations of Cortical Development
Transport Vesicles
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
2018
Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes
13 Citations (Scopus)

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

Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder
2017
5 Citations (Scopus)

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders

Barone, R., Fichera, M., De Grandi, M., Battaglia, M., Lo Faro, V., Mattina, T. & Rizzo, R., 2017, In : American Journal of Medical Genetics, Part A. 173, 6, p. 1649-1655 7 p.

Research output: Contribution to journalArticle

2016
3 Citations (Scopus)

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase

Fichera, G. A., Fichera, M. & Milone, G., Apr 20 2016, (Accepted/In press) In : Anti-Cancer Drugs.

Research output: Contribution to journalArticle

Lactobacillus casei
Hexokinase
Peptidoglycan
Peptides
Licensure
56 Citations (Scopus)

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., Fichera, M., Li, D., Amaral, D., Cristofoli, F., Peeters, H., Haan, E., Romano, C., Mefford, H. C., Scheffer, I., Gecz, J. & 2 others, De Vries, B. B. A. & Eichler, E. E., Jan 1 2016, In : Molecular Psychiatry. 21, 1, p. 126-132 7 p.

Research output: Contribution to journalArticle

Autistic Disorder
Intellectual Disability
Mutation
Febrile Seizures
Microcephaly

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

Neural Cell Adhesion Molecule L1
Assays
Genes
Mutation
Paraplegia
14 Citations (Scopus)

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Bianciardi, L., Fichera, M., Failla, P., Di Marco, C., Grozeva, D., Mencarelli, M. A., Spiga, O., Mari, F., Meloni, I., Raymond, L., Renieri, A., Romano, C. & Ariani, F., Feb 1 2016, In : Journal of Human Genetics. 61, 2, p. 95-101 7 p.

Research output: Contribution to journalArticle

Missense Mutation
Intellectual Disability
AT-Hook Motifs
Methyl-CpG-Binding Protein 2
Rett Syndrome
2015
9 Citations (Scopus)

Recurrent duplications of 17q12 associated with variable phenotypes

Mitchell, E., Douglas, A., Kjaegaard, S., Callewaert, B., Vanlander, A., Janssens, S., Yuen, A. L., Skinner, C., Failla, P., Alberti, A., Avola, E., Fichera, M., Kibaek, M., Digilio, M. C., Hannibal, M. C., den Hollander, N. S., Bizzarri, V., Renieri, A., Mencarelli, M. A., Fitzgerald, T. & 12 others, Piazzolla, S., van Oudenhove, E., Romano, C., Schwartz, C., Eichler, E. E., Slavotinek, A., Escobar, L., Rajan, D., Crolla, J., Carter, N., Hodge, J. C. & Mefford, H. C., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3038-3045 8 p.

Research output: Contribution to journalArticle

Phenotype
Tracheomalacia
Chromosome Duplication
Pyloric Stenosis
Funnel Chest
2014
129 Citations (Scopus)

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C., Vulto-Van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., Van Den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., Yntema, H. G., Bakshi, M., Wilson, M., Witherspoon, K. T., Malmgren, H., Nordgren, A., Annerén, G., Fichera, M., Bosco, P., Romano, C. & 5 others, De Vries, B. B. A., Kleefstra, T., Kooy, R. F., Eichler, E. E. & Van Der Aa, N., 2014, In : Nature Genetics. 46, 4, p. 380-384 5 p.

Research output: Contribution to journalArticle

Autistic Disorder
Mutation
Fragile X Syndrome
Genetic Heterogeneity
Interpersonal Relations
5 Citations (Scopus)

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Snijders Blok, C., Corsten-Janssen, N., Fitzpatrick, D. R., Romano, C., Fichera, M., Vitello, G. A., Willemsen, M. H., Schoots, J., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Hoefsloot, L. & Kleefstra, T., Nov 1 2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2843-2848 6 p.

Research output: Contribution to journalArticle

22q11 Deletion Syndrome
CHARGE Syndrome
Phenotype
Choanal Atresia
Olfactory Nerve
7 Citations (Scopus)
Genes
Phenotype
X Chromosome Inactivation
Comparative Genomic Hybridization
Gene Rearrangement
59 Citations (Scopus)

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., Gazzellone, M. J., Thiruvahindrapuram, B., Fagerberg, C., Laulund, L. W., Pellecchia, G., Lamoureux, S., Deshpande, C., Clayton-Smith, J., White, A. C., Leather, S. & 64 others, Trounce, J., Bedford, H. M., Hatchwell, E., Eis, P. S., Yuen, R. K. C., Walker, S., Uddin, M., Geraghty, M. T., Nikkel, S. M., Tomiak, E. M., Fernandez, B. A., Soreni, N., Crosbie, J., Arnold, P. D., Schachar, R. J., Roberts, W., Paterson, A. D., So, J., Szatmari, P., Chrysler, C., Woodbury-Smith, M., Lowry, R. B., Zwaigenbaum, L., Mandyam, D., Wei, J., MacDonald, J. R., Howe, J. L., Nalpathamkalam, T., Wang, Z., Tolson, D., Cobb, D. S., Wilks, T. M., Sorensen, M. J., Bader, P. I., An, Y., Wu, B. L., Musumeci, S. A., Romano, C., Postorivo, D., Nardone, A. M., Monica, M. D., Scarano, G., Zoccante, L., Novara, F., Zuffardi, O., Ciccone, R., Antona, V., Carella, M., Zelante, L., Cavalli, P., Poggiani, C., Cavallari, U., Argiropoulos, B., Chernos, J., Brasch-Andersen, C., Speevak, M., Fichera, M., Ogilvie, C. M., Shen, Y., Hodge, J. C., Talkowski, M. E., Stavropoulos, D. J., Marshall, C. R. & Scherer, S. W., 2014, In : Human Molecular Genetics. 23, 10, p. 2752-2768 17 p., ddt669.

Research output: Contribution to journalArticle

Attention Deficit Disorder with Hyperactivity
Phenotype
Protein Isoforms
Brain
Language Development Disorders
270 Citations (Scopus)

Disruptive CHD8 mutations define a subtype of autism early in development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-Van Silfhout, A. T., Schuurs-Hoeijmakers, J. H., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L. E. L. M., Francescatto, L. & 14 others, Mefford, H. C., Rosenfeld, J. A., Bakken, T., O'Roak, B. J., Pawlus, M., Moon, R., Shendure, J., Amaral, D. G., Lein, E., Rankin, J., Romano, C., De Vries, B. B. A., Katsanis, N. & Eichler, E. E., Jul 17 2014, In : Cell. 158, 2, p. 263-276 14 p.

Research output: Contribution to journalArticle

Bearings (structural)
Autistic Disorder
Neurons
Brain
Genes
1 Citation (Scopus)

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Fichera, M., Barone, R., Grillo, L., De Grandi, M., Fiore, V., Morana, I., Maniscalchi, T., Vinci, M., Amata, S., Spalletta, A., Sorge, G. & Signorelli, S. S., 2014, In : Molecular Cytogenetics. 7, 1, 90.

Research output: Contribution to journalArticle

Autoimmunity
Intellectual Disability
Psychiatry
Genes
Chromosomes
4 Citations (Scopus)

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

Craniosynostoses
Gene Dosage
Chromosome Duplication
Microcephaly
Intellectual Disability
21 Citations (Scopus)

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

Genes
Megalencephaly
Muscle Hypotonia
Language Development Disorders
Haploinsufficiency
8 Citations (Scopus)

Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth

Ruggieri, M., Pavone, V., Polizzi, A., Falsaperla, R., Fichera, M. & Pavone, P., 2014, In : American Journal of Medical Genetics, Part A. 164, 5, p. 1262-1267 6 p.

Research output: Contribution to journalArticle

Klippel-Trenaunay-Weber Syndrome
Port-Wine Stain
Vascular Malformations
Toes
Foot
238 Citations (Scopus)

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., Van Bon, B. W. M., Vulto-Van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., Pfundt, R., Krumm, N., Carvill, G. L., Li, D., Amaral, D., Brown, N., Lockhart, P. J., Scheffer, I. E. & 19 others, Alberti, A., Shaw, M., Pettinato, R., Tervo, R., De Leeuw, N., Reijnders, M. R. F., Torchia, B. S., Peeters, H., Thompson, E., O'Roak, B. J., Fichera, M., Hehir-Kwa, J. Y., Shendure, J., Mefford, H. C., Haan, E., Gécz, J., De Vries, B. B. A., Romano, C. & Eichler, E. E., Sep 26 2014, In : Nature Genetics. 46, 10, p. 1063-1071 9 p.

Research output: Contribution to journalArticle

Genes
Autistic Disorder
Nucleotides
Haploinsufficiency
Genetic Heterogeneity
26 Citations (Scopus)

Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

Pillai-Kastoori, L., Wen, W., Wilson, S. G., Strachan, E., Lo-Castro, A., Fichera, M., Musumeci, S. A., Lehmann, O. J. & Morris, A. C., 2014, In : PLoS Genetics. 10, 7, e1004491.

Research output: Contribution to journalArticle

Hedgehogs
Erinaceidae
Coloboma
morphogenesis
Morphogenesis
29 Citations (Scopus)

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

Palumbo, O., Fichera, M., Palumbo, P., Rizzo, R., Mazzolla, E., Cocuzza, D. M., Carella, M. & Mattina, T., Mar 2014, In : American Journal of Medical Genetics, Part A. 164, 3, p. 828-833 6 p.

Research output: Contribution to journalArticle

Genetic Databases
Intellectual Disability
Brain
Genes
Funnel Chest
2013
Autistic Disorder
Intellectual Disability
Genes
Phenotype
Muscle Hypotonia
39 Citations (Scopus)

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Schuurs-Hoeijmakers, J. H. M., Vulto-Van Silfhout, A. T., Vissers, L. E. L. M., Van De Vondervoort, I. I. G. M., Van Bon, B. W. M., De Ligt, J., Gilissen, C., Hehir-Kwa, J. Y., Neveling, K., Del Rosario, M., Hira, G., Reitano, S., Vitello, A., Failla, P., Greco, D., Fichera, M., Galesi, O., Kleefstra, T., Greally, M. T., Ockeloen, C. W. & 11 others, Willemsen, M. H., Bongers, E. M. H. F., Janssen, I. M., Pfundt, R., Veltman, J. A., Romano, C., Willemsen, M. A., Van Bokhoven, H., Brunner, H. G., De Vries, B. B. A. & De Brouwer, A. P. M., 2013, In : Journal of Medical Genetics. 50, 12, p. 802-811 10 p.

Research output: Contribution to journalArticle

Exome
Siblings
Intellectual Disability
Genes
Mutation

Il pattern clinico ed EEG nella sindrome da delezione 22q13.3

Translated title of the contribution: The clinical and EEG pattern in the 22q13.3 deletion syndromeFigura, M., Bottitta, M., Calabrese, G., Fichera, M. & Elia, M., Apr 2013, In : Bollettino - Lega Italiana contro l'Epilessia. 145, p. 65-71 7 p.

Research output: Contribution to journalArticle

Electroencephalography
Absence Epilepsy
Seizures
Sleep
Chromosomes, Human, Pair 22
10 Citations (Scopus)

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

Barone, C., Bianca, S., Luciano, D., Di Benedetto, D., Vinci, M. & Fichera, M., Jun 2013, In : American Journal of Medical Genetics, Part A. 161, 6, p. 1381-1385 5 p.

Research output: Contribution to journalArticle

Interleukin-1 Receptor Accessory Protein
Deafness
Intellectual Disability
Introns
Genes
22 Citations (Scopus)

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Nuttle, X., Huddleston, J., O'roak, B. J., Antonacci, F., Fichera, M., Romano, C., Shendure, J. & Eichler, E. E., Sep 2013, In : Nature Methods. 10, 9, p. 903-909 7 p.

Research output: Contribution to journalArticle

Gene Conversion
Genetic Association Studies
Genes
Genotype
Molecular Probes
28 Citations (Scopus)

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Curry, C. J., Rosenfeld, J. A., Grant, E., Gripp, K. W., Anderson, C., Aylsworth, A. S., Saad, T. B., Chizhikov, V. V., Dybose, G., Fagerberg, C., Falco, M., Fels, C., Fichera, M., Graakjaer, J., Greco, D., Hair, J., Hopkins, E., Huggins, M., Ladda, R., Li, C. & 22 others, Moeschler, J., Nowaczyk, M. J. M., Ozmore, J. R., Reitano, S., Romano, C., Roos, L., Schnur, R. E., Sell, S., Suwannarat, P., Svaneby, D., Szybowska, M., Tarnopolsky, M., Tervo, R., Tsai, A. C. H., Tucker, M., Vallee, S., Wheeler, F. C., Zand, D. J., Barkovich, A. J., Aradhya, S., Shaffer, L. G. & Dobyns, W. B., Aug 2013, In : American Journal of Medical Genetics, Part A. 161, 8, p. 1833-1852 20 p.

Research output: Contribution to journalArticle

Phenotype
Brain
Connective Tissue
Foot
Classical Lissencephalies and Subcortical Band Heterotopias
2012
10 Citations (Scopus)

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

Concolino, D., Iembo, M. A., Moricca, M. T., Rapsomaniki, M., Marotta, R., Galesi, O., Fichera, M., Romano, C. & Strisciuglio, P., Jan 2012, In : European Journal of Medical Genetics. 55, 1, p. 67-70 4 p.

Research output: Contribution to journalArticle

Phenotype
Umbilical Hernia
Chromosomes, Human, Pair 8
Cryptorchidism
Comparative Genomic Hybridization
5 Citations (Scopus)

Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

Falsaperla, R., Pavone, L., Fichera, M., Striano, P. & Pavone, P., Nov 2012, In : European Journal of Paediatric Neurology. 16, 6, p. 744-748 5 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Muscle Hypotonia
Respiratory Insufficiency
Mutation
Central Sleep Apnea
6 Citations (Scopus)
Autistic Disorder
Intellectual Disability
Chromosome Deletion
Aptitude
Natural History
53 Citations (Scopus)

Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization

Striano, P., Coppola, A., Paravidino, R., Malacarne, M., Gimelli, S., Robbiano, A., Traverso, M., Pezzella, M., Belcastro, V., Bianchi, A., Elia, M., Falace, A., Gazzerro, E., Ferlazzo, E., Freri, E., Galasso, R., Gobbi, G., Molinatto, C., Cavani, S., Zuffardi, O. & 12 others, Striano, S., Ferrero, G. B., Silengo, M., Cavaliere, M. L., Benelli, M., Magi, A., Piccione, M., Bricarelli, F. D., Coviello, D. A., Fichera, M., Minetti, C. & Zara, F., Mar 2012, In : Archives of Neurology. 69, 3, p. 322-330 9 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Epilepsy
Intellectual Disability
Gene Dosage
Genes
28 Citations (Scopus)

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

Ruggieri, M., Milone, P., Pavone, P., Falsaperla, R., Polizzi, A., Caltabiano, R., Fichera, M., Gabriele, A. L., Distefano, A., De Pasquale, R., Salpietro, V., Micali, G. & Pavone, L., Nov 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2870-2880 11 p.

Research output: Contribution to journalArticle

Vascular Malformations
Nevus
Blood Vessels
Legg-Calve-Perthes Disease
Skin
2011
126 Citations (Scopus)

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., Van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A. M., Morton, C. C., An, Y., Astbury, C., Brueton, L. A., Lichtenbelt, K. D., Ades, L. C. & 15 others, Fichera, M., Romano, C., Innis, J. W., Williams, C. A., Bartholomew, D., Van Allen, M. I., Parikh, A., Zhang, L., Wu, B. L., Pyatt, R. E., Schwartz, S., Shaffer, L. G., De Vries, B. B. A., Gusella, J. F. & Elsea, S. H., Oct 7 2011, In : American Journal of Human Genetics. 89, 4, p. 551-563 13 p.

Research output: Contribution to journalArticle

Intellectual Disability
Epilepsy
Exome
Methyl CpG Binding Domain
Autism Spectrum Disorder
10 Citations (Scopus)

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

Mencarelli, M. A., Tassini, M., Pollazzon, M., Vivi, A., Calderisi, M., Falco, M., Fichera, M., Monti, L., Buoni, S., Mari, F., Engelke, U., Wevers, R. A., Hayek, J. & Renieri, A., Oct 2011, In : American Journal of Medical Genetics, Part A. 155, 10, p. 2446-2452 7 p.

Research output: Contribution to journalArticle

Creatine
Intellectual Disability
Magnetic Resonance Spectroscopy
Urine
Creatinine
4 Citations (Scopus)

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

Piccione, M., Sanfilippo, C., Cavani, S., Salatiello, P., Malacarne, M., Pierluigi, M., Fichera, M., Luciano, D. & Corsello, G., Dec 2011, In : Journal of Genetics. 90, 3, p. 473-477 5 p.

Research output: Contribution to journalArticle

90 Citations (Scopus)

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome

Bonaglia, M. C., Giorda, R., Beri, S., de Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., Bonati, M. T., Giglio, S., Guerrini, R., Osimani, S., Marelli, S., Zucca, C., Grasso, R., Borgatti, R., Mani, E., Motta, C. & 35 others, Molteni, M., Romano, C., Greco, D., Reitano, S., Baroncini, A., Lapi, E., Cecconi, A., Arrigo, G., Patricelli, M. G., Pantaleoni, C., D'Arrigo, S., Riva, D., Sciacca, F., Bernardina, D. B., Zoccante, L., Darra, F., Termine, C., Maserati, E., Bigoni, S., Priolo, E., Bottani, A., Gimelli, S., Bena, F., Brusco, A., Gregorio, E., Bagnasco, I., Giussani, U., Nitsch, L., Politi, P., Martinez-Frias, M. L., Martínez-Fernández, M. L., Guardia, N., Bremer, A., Anderlid, B. M. & Zuffardi, O., Jul 2011, In : PLoS Genetics. 7, 7, e1002173.

Research output: Contribution to journalArticle

Haploinsufficiency
telomeres
Telomere
translocation
repair
178 Citations (Scopus)

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Girirajan, S., Brkanac, Z., Coe, B. P., Baker, C., Vives, L., Vu, T. H., Shafer, N., Bernier, R., Ferrero, G. B., Silengo, M., Warren, S. T., Moreno, C. S., Fichera, M., Romano, C., Raskind, W. H. & Eichler, E. E., Nov 2011, In : PLoS Genetics. 7, 11, e1002334.

Research output: Contribution to journalArticle

disability
Intellectual Disability
odds ratio
Dyslexia
phenotype
2010
5 Citations (Scopus)

A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

Piccione, M., Matina, F., Fichera, M., Lo Giudice, M., Damiani, G., Jakil, M. C. & Corsello, G., Apr 2010, In : European Journal of Pediatrics. 169, 4, p. 415-419 5 p.

Research output: Contribution to journalArticle

Neuronal Cell Adhesion Molecules
Neural Cell Adhesion Molecule L1
Prenatal Diagnosis
Fetus
Mutation
1 Citation (Scopus)

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

397 Citations (Scopus)

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., Mefford, H. C., Kidd, J. M., Browning, S. R., Browning, B. L., Dickel, D. E., Levy, D. L., Ballif, B. C., Platky, K., Farber, D. M., Gowans, G. C. & 39 others, Wetherbee, J. J., Asamoah, A., Weaver, D. D., Mark, P. R., Dickerson, J., Garg, B. P., Ellingwood, S. A., Smith, R., Banks, V. C., Smith, W., McDonald, M. T., Hoo, J. J., French, B. N., Hudson, C., Johnson, J. P., Ozmore, J. R., Moeschler, J. B., Surti, U., Escobar, L. F., El-Khechen, D., Gorski, J. L., Kussmann, J., Salbert, B., Lacassie, Y., Biser, A., McDonald-Mcginn, D. M., Zackai, E. H., Deardorff, M. A., Shaikh, T. H., Haan, E., Friend, K. L., Fichera, M., Romano, C., Gécz, J., Delisi, L. E., Sebat, J., King, M. C., Shaffer, L. G. & Eichler, E. E., Mar 2010, In : Nature Genetics. 42, 3, p. 203-209 7 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
1 Citation (Scopus)

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Scuderi, C., Borgione, E., Castello, F., Giudice, M. L., Fichera, M., Elia, M., Amato, C., Savio, M., Blasi, F. D. D., Vitello, G. A., Romano, S., DiMauro, S. & Musumeci, S. A., Aug 2010, In : Mitochondrion. 10, 5, p. 548-554 7 p.

Research output: Contribution to journalArticle

Mitochondrial Encephalomyopathies
Lissencephaly
Mitochondrial DNA
Classical Lissencephalies and Subcortical Band Heterotopias
Mitochondrial Myopathies
7 Citations (Scopus)

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

Genes
Oligonucleotide Array Sequence Analysis
Blood Cells
Intellectual Disability
Focal Adhesion Kinase 1

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

17 Citations (Scopus)
Chromosome Deletion
Intellectual Disability
Craniosynostoses
Mothers
Borderline Personality Disorder
6 Citations (Scopus)
Angelman Syndrome
Ubiquitin-Protein Ligases
Multiplex Polymerase Chain Reaction
Amplification
Genes
57 Citations (Scopus)

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

Phenotype
Microcephaly
Mentally Disabled Persons
Intellectual Disability
Smith-Magenis Syndrome
2009
411 Citations (Scopus)

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., De Kovel, C., Baker, C., Von Spiczak, S., Kron, K. L., Steinich, I., Kleefuß-Lie, A. A., Leu, C., Gaus, V., Schmitz, B., Klein, K. M., Reif, P. S., Rosenow, F., Weber, Y. & 24 others, Lerche, H., Zimprich, F., Urak, L., Fuchs, K., Feucht, M., Genton, P., Thomas, P., Visscher, F., De Haan, G. J., Møller, R. S., Hjalgrim, H., Luciano, D., Wittig, M., Nothnagel, M., Elger, C. E., Nürnberg, P., Romano, C., Malafosse, A., Koeleman, B. P. C., Lindhout, D., Stephani, U., Schreiber, S., Eichler, E. E. & Sander, T., Feb 2009, In : Nature Genetics. 41, 2, p. 160-162 3 p.

Research output: Contribution to journalArticle

Autistic Disorder
Intellectual Disability
Epilepsy
Schizophrenia
Joints