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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53553-2
By:
- Ceroni, Fabiola;
- Cicekdal, Munevver B.;
- Holt, Richard;
- Sorokina, Elena;
- Chassaing, Nicolas;
- Clokie, Samuel;
- Naert, Thomas;
- Talbot, Lidiya V.;
- Muheisen, Sanaa;
- Bax, Dorine A.;
- Kesim, Yesim;
- Kivuva, Emma C.;
- Vincent-Delorme, Catherine;
- Lienkamp, Soeren S.;
- Plaisancié, Julie;
- De Baere, Elfride;
- Calvas, Patrick;
- Vleminckx, Kris;
- Semina, Elena V.;
- Ragge, Nicola K.
Publication type:
Article
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.858238
By:
- Viggiano, Marta;
- D'Andrea, Tiziano;
- Cameli, Cinzia;
- Posar, Annio;
- Visconti, Paola;
- Scaduto, Maria Cristina;
- Colucci, Roberta;
- Rochat, Magali J.;
- Ceroni, Fabiola;
- Milazzo, Giorgio;
- Fucile, Sergio;
- Maestrini, Elena;
- Bacchelli, Elena
Publication type:
Article
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation.
Published in:
Scientific Reports, 2016, p. 20369, doi. 10.1038/srep20369
By:
- Prekovic, Stefan;
- Đurđević, Dušica Filipović;
- Csifcsák, Gábor;
- Šveljo, Olivera;
- Stojković, Oliver;
- Janković, Milica;
- Koprivšek, Katarina;
- Covill, Laura E;
- Lučić, Milos;
- Van den Broeck, Thomas;
- Helsen, Christine;
- Ceroni, Fabiola;
- Claessens, Frank;
- Newbury, Dianne F
Publication type:
Article
A Deletion Involving CD 38 and BST 1 Results in a Fusion Transcript in a Patient With Autism and Asthma.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 2, p. 254, doi. 10.1002/aur.1365
By:
- Ceroni, Fabiola;
- Sagar, Angela;
- Simpson, Nuala H.;
- Gawthrope, Alex J.T.;
- Newbury, Dianne F.;
- Pinto, Dalila;
- Francis, Sunday M.;
- Tessman, Dorothy C.;
- Cook, Edwin H.;
- Monaco, Anthony P.;
- Maestrini, Elena;
- Pagnamenta, Alistair T.;
- Jacob, Suma
Publication type:
Article
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Published in:
Human Genetics, 2019, v. 138, n. 8/9, p. 1027, doi. 10.1007/s00439-018-1875-2
By:
- Ceroni, Fabiola;
- Aguilera-Garcia, Domingo;
- Chassaing, Nicolas;
- Bax, Dorine Arjanne;
- Blanco-Kelly, Fiona;
- Ramos, Patricia;
- Tarilonte, Maria;
- Villaverde, Cristina;
- da Silva, Luciana Rodrigues Jacy;
- Ballesta-Martínez, Maria Juliana;
- Sanchez-Soler, Maria Jose;
- Holt, Richard James;
- Cooper-Charles, Lisa;
- Bruty, Jonathan;
- Wallis, Yvonne;
- McMullan, Dominic;
- Hoffman, Jonathan;
- Bunyan, David;
- Stewart, Alison;
- Stewart, Helen
Publication type:
Article
Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02250-z
By:
- Price, Kaitlyn M.;
- Wigg, Karen G.;
- Eising, Else;
- Feng, Yu;
- Blokland, Kirsten;
- Wilkinson, Margaret;
- Kerr, Elizabeth N.;
- Guger, Sharon L.;
- Quantitative Trait Working Group of the GenLang Consortium;
- Abbondanza, Filippo;
- Allegrini, Andrea G.;
- Andlauer, Till F. M.;
- Bates, Timothy C.;
- Bernard, Manon;
- Bonte, Milene;
- Boomsma, Dorret I.;
- Bourgeron, Thomas;
- Brandeis, Daniel;
- Carreiras, Manuel;
- Ceroni, Fabiola
Publication type:
Article
Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1370, doi. 10.1038/ejhg.2014.296
By:
- Simpson, Nuala H;
- Ceroni, Fabiola;
- Reader, Rose H;
- Covill, Laura E;
- Knight, Julian C;
- Hennessy, Elizabeth R;
- Bolton, Patrick F;
- Conti-Ramsden, Gina;
- O'Hare, Anne;
- Baird, Gillian;
- Fisher, Simon E;
- Newbury, Dianne F
Publication type:
Article
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1113, doi. 10.1038/ejhg.2014.275
By:
- Ceroni, Fabiola;
- Simpson, Nuala H;
- Francks, Clyde;
- Baird, Gillian;
- Conti-Ramsden, Gina;
- Clark, Ann;
- Bolton, Patrick F;
- Hennessy, Elizabeth R;
- Donnelly, Peter;
- Bentley, David R;
- Martin, Hilary;
- Parr, Jeremy;
- Pagnamenta, Alistair T;
- Maestrini, Elena;
- Bacchelli, Elena;
- Fisher, Simon E;
- Newbury, Dianne F
Publication type:
Article
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1165, doi. 10.1038/ejhg.2014.4
By:
- Ceroni, Fabiola;
- Simpson, Nuala H;
- Francks, Clyde;
- Baird, Gillian;
- Conti-Ramsden, Gina;
- Clark, Ann;
- Bolton, Patrick F;
- Hennessy, Elizabeth R;
- Donnelly, Peter;
- Bentley, David R;
- Martin, Hilary;
- Parr, Jeremy;
- Pagnamenta, Alistair T;
- Maestrini, Elena;
- Bacchelli, Elena;
- Fisher, Simon E;
- Newbury, Dianne F
Publication type:
Article
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Published in:
Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
By:
- Cameli, Cinzia;
- Viggiano, Marta;
- Rochat, Magali J.;
- Maresca, Alessandra;
- Caporali, Leonardo;
- Fiorini, Claudio;
- Palombo, Flavia;
- Magini, Pamela;
- Duardo, Renée C.;
- Ceroni, Fabiola;
- Scaduto, Maria C.;
- Posar, Annio;
- Seri, Marco;
- Carelli, Valerio;
- Visconti, Paola;
- Bacchelli, Elena;
- Maestrini, Elena
Publication type:
Article
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 18, p. 3054, doi. 10.1093/hmg/ddaa198
By:
- Zha, Congyao;
- Farah, Carole A;
- Holt, Richard J;
- Ceroni, Fabiola;
- Al-Abdi, Lama;
- Thuriot, Fanny;
- Khan, Arif O;
- Helaby, Rana;
- Lévesque, Sébastien;
- Alkuraya, Fowzan S;
- Kraus, Alison;
- Ragge, Nicola K;
- Sossin, Wayne S
Publication type:
Article
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00411-1
By:
- Viggiano, Marta;
- Ceroni, Fabiola;
- Visconti, Paola;
- Posar, Annio;
- Scaduto, Maria Cristina;
- Sandoni, Laura;
- Baravelli, Irene;
- Cameli, Cinzia;
- Rochat, Magali J.;
- Maresca, Alessandra;
- Vaisfeld, Alessandro;
- Gentilini, Davide;
- Calzari, Luciano;
- Carelli, Valerio;
- Zody, Michael C.;
- Maestrini, Elena;
- Bacchelli, Elena
Publication type:
Article

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