• 280 Citations
  • 8 h-Index
20002018
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Fingerprint Dive into the research topics where Emanuela Avola is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 25 Similar Profiles
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
X Chromosome Inactivation Medicine & Life Sciences
Gene Dosage Medicine & Life Sciences
Genomic Segmental Duplications Medicine & Life Sciences
Language Development Disorders Medicine & Life Sciences
Craniosynostoses Medicine & Life Sciences

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Research Output 2000 2018

  • 280 Citations
  • 8 h-Index
  • 14 Article
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
34 Citations (Scopus)

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, M. R., Heymann, G., Wang, T., Coe, B. P., Turner, T. N., Stessman, H. A. F., Hoekzema, K., Kvarnung, M., Shaw, M., Friend, K., Liebelt, J., Barnett, C., Thompson, E. M., Haan, E., Guo, H., Anderlid, B-M., Nordgren, A., Lindstrand, A., Vandeweyer, G., Alberti, A. & 20 others, Avola, E., Vinci, M., Giusto, S., Pramparo, T., Pierce, K., Nalabolu, S., Michaelson, J. J., Sedlacek, Z., Santen, G. W. E., Peeters, H., Hakonarson, H., Courchesne, E., Romano, C., Kooy, R. F., Bernier, R. A., Nordenskjöld, M., Gecz, J., Xia, K., Zweifel, L. S. & Eichler, E. E., 2017, In : Nature Neuroscience. 20, 8, p. 1043-1051 9 p.

Research output: Contribution to journalArticle

104 Citations (Scopus)

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T. N., Santen, G., Ruivenkamp, C., Kriek, M., Van Haeringen, A., Aten, E., Friend, K., Liebelt, J. & 33 others, Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B-M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R. F., Vandeweyer, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D. G., Scheffer, I. E., Delatycki, M. B., Lockhart, P. J., Hormozdiari, F., Harich, B., Castells-Nobau, A., Xia, K., Peeters, H., Nordenskjöld, M., Schenck, A., Bernier, R. A. & Eichler, E. E., 2017, In : Nature Genetics. 49, 4, p. 515-526 12 p.

Research output: Contribution to journalArticle

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
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