• 7004 Citations
  • 38 h-Index
1988 …2019
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Research Output 1988 2019

2019
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
Spinocerebellar Ataxias
Intellectual Disability
Pediatrics
Mutation
Ataxia
2 Citations (Scopus)

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

Romano Corrado, Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Lip
Ubiquitin-Protein Ligase Complexes
Cullin Proteins
F-Box Proteins

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

University of Washington Center for Mendelian Genomics, Dec 1 2019, In : Nature Communications. 10, 1, 4679.

Research output: Contribution to journalArticle

Open Access
mutations
Psychiatry
Genes
disorders
proteins

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Romano Corrado, Sep 25 2019, In : Science Advances. 5, 9, eaax2166.

Research output: Contribution to journalArticle

synapses
disabilities
seizures
proteins
Drosophila

Enabling global clinical collaborations on identifiable patient data: The Minerva initiative

Romano Corrado, Jan 1 2019, In : Frontiers in Genetics. 10, JUN, 611.

Research output: Contribution to journalComment/debate

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

Salemi, M., Cannarella, R., Condorelli, R. A., Cimino, L., Ridolfo, F., Giurato, G., Romano, C., La Vignera, S. & Calogero, A. E., Jan 7 2019, In : BMC Medical Genetics. 20, 1, 4.

Research output: Contribution to journalArticle

Long Noncoding RNA
Klinefelter Syndrome
Growth
Autoimmune Diseases
Atherosclerosis
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
2018
17 Citations (Scopus)

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

ADNP Consortium, Jan 1 2018, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

Mutation
Autistic Disorder
Intellectual Disability
Genetic Association Studies
Parents

Expression of miR-132 in Down syndrome subjects

Salemi, M., Barone, C., Salluzzo, M. G., Giambirtone, M., Ridolfo, F. & Romano, C., Jul 1 2018, In : Human Cell. 31, 3, p. 268-270 3 p.

Research output: Contribution to journalLetter

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

Salemi, M., Cimino, L., Marino, M., Cannarella, R., Condorelli, R. A., Romano, C., La Vignera, S. & Calogero, A. E., 2018, In : International Journal of Medical Sciences. 15, 1, p. 31-35 5 p.

Research output: Contribution to journalArticle

Klinefelter Syndrome
Sex Chromosome Disorders
Electron Transport Complex I
Gynecomastia
Hypogonadism
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
2 Citations (Scopus)

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A. L., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E. J., Pfundt, R., Romano, C., Aronsson, J., Alberti, A., Vinci, M., Miranda, M. J., Lacroix, A., Marjanovic, D., des Portes, V., Edery, P. & 7 others, Wieczorek, D., Gardella, E., Scheffer, I. E., Mefford, H., Sanlaville, D., Carvill, G. L. & Lesca, G., May 1 2018, In : Annals of Neurology. 83, 5, p. 926-934 9 p.

Research output: Contribution to journalArticle

Brain Diseases
Epilepsy
Generalized Epilepsy
Seizures
Myoclonic Epilepsy
8 Citations (Scopus)

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, H., Dharmadhikari, A. V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A. F., Yoon, M., Stray-Pedersen, A., Posey, J. E., Crews, S. R., Eldomery, M. K., Akdemir, Z. C., Lewis, A. M., Sutton, V. R., Rosenfeld, J. A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M. & 30 others, Longoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Küry, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A. & Vandeweyer, G., Jan 1 2018, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

N-Terminal Acetyltransferase A
Intellectual Disability
Genes
Acetylation
Translational Protein Modification
2017
5 Citations (Scopus)

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., Dec 5 2017, (Accepted/In press) In : European Journal of Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Intellectual Disability
Genotype
Phenotype
Mutation
Dermatology
Neurocutaneous Syndromes
Pediatrics
Atopic Dermatitis
Medicine
7 Citations (Scopus)

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Calì, F., Chiavetta, N. V., Ruggeri, G., Piccione, M., Selicorni, A., Palazzo, D., Bonsignore, M., Cereda, A., Elia, M., Failla, P., Figura, M. G., Fiumara, A., Maitz, S., Luana Mandarà, G. M., Mattina, T., Ragalmuto Mannino, A., Romano, C., Ruggieri, M., Salluzzo, R., Saporoso, A. & 6 others, Schepis, C., Sorge, G., Spanò, M., Tortorella, G., Salemi, M. & Damjanovicova, M., Feb 1 2017, In : European Journal of Medical Genetics. 60, 2, p. 93-99 7 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Ions
Mutation
Mosaicism
2 Citations (Scopus)

Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome

Caraci, F., Iulita, M. F., Pentz, R., Flores Aguilar, L., Orciani, C., Barone, C., Romano, C., Drago, F. & Cuello, A. C., 2017, (Accepted/In press) In : European Journal of Pharmacology.

Research output: Contribution to journalArticle

Down Syndrome
Alzheimer Disease
Pharmacology
Dementia
Biomarkers

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

Salemi, M., Cali’, F., Giambirtone, M., Elia, M. & Romano, C., Jul 19 2017, (Accepted/In press) In : Acta Neurologica Belgica. p. 1-3 3 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study

Stoccoro, A., Tannorella, P., Salluzzo, M. G., Ferri, R., Romano, C., Nacmias, B., Siciliano, G., Migliore, L. & Coppedè, F., 2017, In : Journal of Alzheimer's Disease. 56, 4, p. 1451-1457 7 p.

Research output: Contribution to journalArticle

Methylenetetrahydrofolate Reductase (NADPH2)
Multicenter Studies
Alzheimer Disease
Apolipoprotein E4
Alleles
2016
26 Citations (Scopus)

An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation

Iulita, M. F., Ower, A., Barone, C., Pentz, R., Gubert, P., Romano, C., Cantarella, R. A., Elia, F., Buono, S., Recupero, M., Castellano, S., Bosco, P., Di Nuovo, S., Drago, F., Caraci, F. & Cuello, A. C., Nov 1 2016, In : Alzheimer's and Dementia. 12, 11, p. 1132-1148 17 p.

Research output: Contribution to journalArticle

Down Syndrome
Biomarkers
Dementia
Matrix Metalloproteinases
Interleukin-10

A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers

Salemi, M., Barone, C., Salluzzo, M. G., Giambirtone, M. C., Scillato, F., Galati Rando, R., Romano, C., Morale, M. C., Ridolfo, F. & Romano, C., Dec 6 2016, (Accepted/In press) In : Journal of Maternal-Fetal and Neonatal Medicine. Dec 7:1-3. [Epub ahead of print], p. 1-3 3 p.

Research output: Contribution to journalArticle

Down Syndrome
Neoplasms
Proteins
Chromosomal Instability
Aneuploidy
38 Citations (Scopus)

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., Van Der Burgt, I., Ockeloen, C. W., Schuurs-Hoeijmakers, J. H., Klein Wassink-Ruiter, J. S., Stumpel, C., Stevens, S. J. C., Vles, H. S., Marcelis, C. M., Van Bokhoven, H. & 31 others, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R. A., Gerdts, J., Coe, B. P., Romano, C., Alberti, A., Grillo, L., Scuderi, C., Nordenskjöld, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E. E. & Kleefstra, T., Mar 3 2016, In : American Journal of Human Genetics. 98, 3, p. 541-552 12 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Language Development Disorders
Mutation
Microcephaly
3 Citations (Scopus)
Down Syndrome
Gene Expression
Leukocytes
Fibroblasts
Epstein-Barr Virus Infections

Low AMH levels as a marker of reduced ovarian reserve in young women affected by Downʼs syndrome

Romualdi, D., Proto, C., de Cicco, S., Immediata, V., Barone, C., Romano, C. & Lanzone, A., Jul 25 2016, (Accepted/In press) In : Menopause.

Research output: Contribution to journalArticle

Anti-Mullerian Hormone
Down Syndrome
Menopause
Menstrual Cycle
Ovarian Reserve
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
25 Citations (Scopus)

The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, E. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, H. M., Hehir-Kwa, J. Y. & 29 others, Willemsen, M. H., Ockeloen, C. W., Jongmans, M. C., Van Der Aa, N., Failla, P., Barone, C., Avola, E., Brooks, A. S., Kant, S. G., Gerkes, E. H., Firth, H. V., Unap, K., Bird, L. M., Masser-Frye, D., Friedman, J. R., Sokunbi, M. A., Dixit, A., Splitt, M., Kukolich, M. K., McGaughran, J., Coe, B. P., Flórez, J., Nadif Kasr, N., Brunner, H. G., Thompson, E. M., Gecz, J., Romano, C., Eichler, E. E. & De Vries, B. B. A., May 1 2016, In : European Journal of Human Genetics. 24, 5, p. 652-659 8 p.

Research output: Contribution to journalArticle

Nucleotides
DNA Copy Number Variations
Genetic Databases
Phenotype
Haploinsufficiency
2015
2 Citations (Scopus)

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down syndrome

Salemi, M., Barone, C., Romano, C., Salluzzo, M. G., Giambirtone, M., Morale, M. C., Calogero, A. E., Grillo, L., Bosco, P. & Romano, C., 2015, In : Cellular and Molecular Biology. 61, 5, p. 49-51 3 p.

Research output: Contribution to journalArticle

Cystathionine
Minisatellite Repeats
Poisons
Enzyme activity
Chromosomes
12 Citations (Scopus)

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

Intellectual Disability
Inbreeding
Autistic Disorder
Nervous System Diseases
Intelligence
1 Citation (Scopus)

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome

Salemi, M., Condorelli, R. A., La Vignera, S., Castiglione, R., Salluzzo, M. G., Bonaccorso, C. M., Vinci, M., Bosco, P., Romano, C., Campagna, C., Romano, C. & Calogero, A. E., 2015, (Accepted/In press) In : Journal of Clinical Laboratory Analysis.

Research output: Contribution to journalArticle

Type 4 Cyclic Nucleotide Phosphodiesterase
Cryptorchidism
Down Syndrome
Genes
Cyclic Nucleotides
10 Citations (Scopus)

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Ito, H., Shiwaku, H., Yoshida, C., Homma, H., Luo, H., Chen, X., Fujita, K., Musante, L., Fischer, U., Frints, S. G. M., Romano, C., Ikeuchi, Y., Shimamura, T., Imoto, S., Miyano, S., Muramatsu, S. I., Kawauchi, T., Hoshino, M., Sudol, M., Arumughan, A. & 7 others, Wanker, E. E., Rich, T., Schwartz, C., Matsuzaki, F., Bonni, A., Kalscheuer, V. M. & Okazawa, H., Apr 2 2015, In : Molecular Psychiatry. 20, 4, p. 459-471 13 p.

Research output: Contribution to journalArticle

Microcephaly
Neural Stem Cells
Knockout Mice
Genetic Therapy
Stem Cells

LDOC1 expression in fibroblasts of patients with Down syndrome

Salemi, M., Barone, C., Romano, C., Caniglia, S., Ragalmuto, A., Scillato, F., Salluzzo, M. G., Scavuzzo, C., Vinci, M., Salluzzo, R., Romano, C. & Bosco, P., Jan 1 2015, In : Open Life Sciences. 10, 1, p. 139-141 3 p.

Research output: Contribution to journalArticle

Down syndrome
Leucine Zippers
leucine zipper
Fibroblasts
Down Syndrome

Letter to Editor: Cytochrome b gene expression in down syndrome subjects

Salemi, M., Barone, C., Romano, C., Grazia Salluzzo, M., Galati Rando, R. G., Scavuzzo, C., Salluzzo, R., Russo, R., Giambirtone, M., Scillato, F. & Romano, C., 2015, In : Cellular and Molecular Biology. 61, 3, p. 6-7 2 p.

Research output: Contribution to journalArticle

62 Citations (Scopus)

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
X-Linked Genes
Exome
Sexism
1 Citation (Scopus)

NF-kB1 gene expression in Down syndrome patients

Salemi, M., Barone, C., Romano, C., Scillato, F., Ragalmuto, A., Caniglia, S., Salluzzo, M. G., Sciuto, G., Ridolfo, F., Romano, C. & Bosco, P., Oct 16 2015, In : Neurological Sciences. 36, 6, p. 1065-1066 2 p.

Research output: Contribution to journalArticle

Paediatric ulcerative colitis surgery: Italian Survey

Mattioli, G., Barabino, A., Aloi, M., Arrigo, S., Caldaro, T., Carlucci, M., Cucchiara, S., De Angelis, P., Di Leo, G., Illiceto, M. T., Impellizzeri, P., Leonelli, L., Lisi, G., Lombardi, G., Martelossi, S., Martinelli, M., Miele, E., Randazzo, A., Romano, C., Romeo, C. & 4 others, Romeo, E., Selvaggi, F. F., Valenti, S. & Dall'Oglio, L., 2015, In : Journal of Crohn's and Colitis. 9, 7, p. 558-564 7 p.

Research output: Contribution to journalArticle

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
3 Citations (Scopus)

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Morgan, A., Gandin, I., Belcaro, C., Palumbo, P., Palumbo, O., Biamino, E., Dal Col, V., Laurini, E., Pricl, S., Bosco, P., Carella, M., Ferrero, G. B., Romano, C., d'Adamo, A. P., Faletra, F. & Vozzi, D., Nov 1 2015, In : Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 781, p. 32-36 5 p.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
Genes
Genetic Heterogeneity
Molecular Dynamics Simulation
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
1 Citation (Scopus)

CASP3 protein expression by flow cytometry in Down's syndrome subjects

Salemi, M., Condorelli, R. A., Romano, C., Concetta, B., Romano, C., Salluzzo, M. G., Bosco, P. & Calogero, A. E., Jan 2014, In : Human Cell. 27, 1, p. 43-45 3 p.

Research output: Contribution to journalArticle

Down Syndrome
Caspase 3
Flow Cytometry
Proteins
Alzheimer Disease
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

Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects

Salemi, M., Barone, C., Romano, C., Zolezzi, F., Romano, C., Scavuzzo, C., Salluzzo, R., Scillato, F., Signorelli, M., Kapetis, D., Salluzzo, M. G. & Bosco, P., Dec 1 2014, In : Journal of Genetics. 93, p. 18-23 6 p.

Research output: Contribution to journalArticle

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
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