CERONI, FABIOLA
CERONI, FABIOLA
DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
2024 Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.; Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
2024 Rots, D.; Choufani, S.; Faundes, V.; Dingemans, A. J. M.; Joss, S.; Foulds, N.; Jones, E. A.; Stewart, S.; Vasudevan, P.; Dabir, T.; Park, S. -M.; Jewell, R.; Brown, N.; Pais, L.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C. M. A. V.; Kroes, H. Y.; Stumpel, C. T. R. M.; Ockeloen, C. W.; Diets, I. J.; Nizon, M.; Vincent, M.; Cogne, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E. H.; Mcdougall, C.; Donoghue, S.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G. E.; Vera, M.; Shen, J. J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B. N.; Giltay, J. C.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; de Vries, B. B. A.; Motter, C. S.; Mendelsohn, B. A.; Coffino, S.; Gerkes, E. H.; Afenjar, A.; Visconti, P.; Bacchelli, E.; Maestrini, E.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Adams, H.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M. J.; Rutten, J. W.; Caluseriu, O.; Vernon, H. J.; Kaziyev, J.; Zhu, J.; Kremen, J.; Frazier, Z.; Osika, H.; Breault, D.; Nair, S.; Lewis, S. M. E.; Ceroni, F.; Viggiano, M.; Posar, A.; Brittain, H.; Giovanna, T.; Giulia, G.; Quteineh, L.; Ha-Vinh Leuchter, R.; Zonneveld-Huijssoon, E.; Mellado, C.; Marey, I.; Coudert, A.; Aracena Alvarez, M. I.; Kennis, M. G. P.; Bouman, A.; Roifman, M.; Amoros Rodriguez, M. I.; Ortigoza-Escobar, J. D.; Vernimmen, V.; Sinnema, M.; Pfundt, R.; Brunner, H. G.; Vissers, L. E. L. M.; Kleefstra, T.; Weksberg, R.; Banka, S.
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
2022 Ceroni, Fabiola; Osborne, Daniel; Clokie, Samuel; Bax, Dorine A; Cassidy, Emma J; Dunn, Matt J; Harris, Christopher M; Self, Jay E; Ragge, Nicola K
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility
2022 Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
2022 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
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility
2022 Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini
Discovery of 42 genome-wide significant loci associated with dyslexia
2022 Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gökberk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle; *Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
2022 Eising, Else; Mirza-Schreiber, Nazanin; de Zeeuw, Eveline L; Wang, Carol A; Truong, Dongnhu T; Allegrini, Andrea G; Shapland, Chin Yang; Zhu, Gu; Wigg, Karen G; Gerritse, Margot L; Molz, Barbara; Alagöz, Gökberk; Gialluisi, Alessandro; Abbondanza, Filippo; Rimfeld, Kaili; van Donkelaar, Marjolein; Liao, Zhijie; Jansen, Philip R; Andlauer, Till F M; Bates, Timothy C; Bernard, Manon; Blokland, Kirsten; Bonte, Milene; Børglum, Anders D; Bourgeron, Thomas; Brandeis, Daniel; Ceroni, Fabiola; Csépe, Valéria; Dale, Philip S; de Jong, Peter F; DeFries, John C; Démonet, Jean-François; Demontis, Ditte; Feng, Yu; Gordon, Scott D; Guger, Sharon L; Hayiou-Thomas, Marianna E; Hernández-Cabrera, Juan A; Hottenga, Jouke-Jan; Hulme, Charles; Kere, Juha; Kerr, Elizabeth N; Koomar, Tanner; Landerl, Karin; Leonard, Gabriel T; Lovett, Maureen W; Lyytinen, Heikki; Martin, Nicholas G; Martinelli, Angela; Maurer, Urs; Michaelson, Jacob J; Moll, Kristina; Monaco, Anthony P; Morgan, Angela T; Nöthen, Markus M; Pausova, Zdenka; Pennell, Craig E; Pennington, Bruce F; Price, Kaitlyn M; Rajagopal, Veera M; Ramus, Franck; Richer, Louis; Simpson, Nuala H; Smith, Shelley D; Snowling, Margaret J; Stein, John; Strug, Lisa J; Talcott, Joel B; Tiemeier, Henning; van der Schroeff, Marc P; Verhoef, Ellen; Watkins, Kate E; Wilkinson, Margaret; Wright, Margaret J; Barr, Cathy L; Boomsma, Dorret I; Carreiras, Manuel; Franken, Marie-Christine J; Gruen, Jeffrey R; Luciano, Michelle; Müller-Myhsok, Bertram; Newbury, Dianne F; Olson, Richard K; Paracchini, Silvia; Paus, Tomáš; Plomin, Robert; Reilly, Sheena; Schulte-Körne, Gerd; Tomblin, J Bruce; van Bergen, Elsje; Whitehouse, Andrew J O; Willcutt, Erik G; St Pourcain, Beate; Francks, Clyde; Fisher, Simon E
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E.
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
2020 Zha C.; Farah C.A.; Holt R.J.; Ceroni F.; Al-Abdi L.; Thuriot F.; Khan A.O.; Helaby R.; Levesque S.; Alkuraya F.S.; Kraus A.; Ragge N.K.; Sossin W.S.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
2019 Holt R.J.; Young R.M.; Crespo B.; Ceroni F.; Curry C.J.; Bellacchio E.; Bax D.A.; Ciolfi A.; Simon M.; Fagerberg C.R.; van Binsbergen E.; De Luca A.; Memo L.; Dobyns W.B.; Mohammed A.A.; Clokie S.J.H.; Zazo Seco C.; Jiang Y.-H.; Sorensen K.P.; Andersen H.; Sullivan J.; Powis Z.; Chassevent A.; Smith-Hicks C.; Petrovski S.; Antoniadi T.; Shashi V.; Gelb B.D.; Wilson S.W.; Gerrelli D.; Tartaglia M.; Chassaing N.; Calvas P.; Ragge N.K.
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
2019 Plaisancie J.; Ceroni F.; Holt R.; Zazo Seco C.; Calvas P.; Chassaing N.; Ragge N.K.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
2019 Ceroni F.; Aguilera-Garcia D.; Chassaing N.; Bax D.A.; Blanco-Kelly F.; Ramos P.; Tarilonte M.; Villaverde C.; da Silva L.R.J.; Ballesta-Martinez M.J.; Sanchez-Soler M.J.; Holt R.J.; Cooper-Charles L.; Bruty J.; Wallis Y.; McMullan D.; Hoffman J.; Bunyan D.; Stewart A.; Stewart H.; Lachlan K.; Fryer A.; McKay V.; Roume J.; Dureau P.; Saggar A.; Griffiths M.; Calvas P.; Ayuso C.; Corton M.; Ragge N.K.
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
2017 Holt R.; Ceroni F.; Bax D.A.; Broadgate S.; Diaz D.G.; Santos C.; Gerrelli D.; Ragge N.K.
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation
2016 Prekovic S.; Durdevic D.F.; Csifcsak G.; Sveljo O.; Stojkovic O.; Jankovic M.; Koprivsek K.; Covill L.E.; Lucic M.; Van Den Broeck T.; Helsen C.; Ceroni F.; Claessens F.; Newbury D.F.
Genome-wide analysis identifies a role for common copy number variants in specific language impairment
2015 Simpson N.H.; Ceroni F.; Reader R.H.; Covill L.E.; Knight J.C.; Nudel R.; Monaco A.P.; Simonoff E.; Pickles A.; Slonims V.; Dworzynski K.; Everitt A.; Clark A.; Watson J.; Seckl J.; Cowie H.; Cohen W.; Nasir J.; Bishop D.V.M.; Simkin Z; Hennessy E.R.; Bolton P.F.; Conti-Ramsden G.; O'Hare A.; Baird G.; Fisher S.E.; Newbury D.F.
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'
2015 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.
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
2014 Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Battaglia A;Maestrini E
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
2014 Ceroni F;Sagar A;Simpson NH;Gawthrope AJ;Newbury DF;Pinto D;Francis SM;Tessman DC;Cook EH;Monaco AP;Maestrini E;Pagnamenta AT;Jacob S
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
2014 Ceroni F; Simpson NH; Francks C; Baird G; Conti-Ramsden G; Clark A; Bolton PF; Hennessy ER; Donnelly P; Bentley DR; Martin H; Parr J; Pagnamenta AT; Maestrini E; Bacchelli E; Fisher SE; Newbury DF
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.;... Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E. | 2024-01-01 | NPJ GENOMIC MEDICINE | - | 1.01 Articolo in rivista | Viggiano_NPJGenMed24.pdf; 41525_2024_411_MOESM1_ESM_compressed (1).pdf |
| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | Rots, D.; Choufani, S.; Faundes, V.; Dingemans, A. J. M.; Joss, S.; Foulds, N.; Jones, E. A.; Ste...wart, S.; Vasudevan, P.; Dabir, T.; Park, S. -M.; Jewell, R.; Brown, N.; Pais, L.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C. M. A. V.; Kroes, H. Y.; Stumpel, C. T. R. M.; Ockeloen, C. W.; Diets, I. J.; Nizon, M.; Vincent, M.; Cogne, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E. H.; Mcdougall, C.; Donoghue, S.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G. E.; Vera, M.; Shen, J. J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B. N.; Giltay, J. C.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; de Vries, B. B. A.; Motter, C. S.; Mendelsohn, B. A.; Coffino, S.; Gerkes, E. H.; Afenjar, A.; Visconti, P.; Bacchelli, E.; Maestrini, E.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Adams, H.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M. J.; Rutten, J. W.; Caluseriu, O.; Vernon, H. J.; Kaziyev, J.; Zhu, J.; Kremen, J.; Frazier, Z.; Osika, H.; Breault, D.; Nair, S.; Lewis, S. M. E.; Ceroni, F.; Viggiano, M.; Posar, A.; Brittain, H.; Giovanna, T.; Giulia, G.; Quteineh, L.; Ha-Vinh Leuchter, R.; Zonneveld-Huijssoon, E.; Mellado, C.; Marey, I.; Coudert, A.; Aracena Alvarez, M. I.; Kennis, M. G. P.; Bouman, A.; Roifman, M.; Amoros Rodriguez, M. I.; Ortigoza-Escobar, J. D.; Vernimmen, V.; Sinnema, M.; Pfundt, R.; Brunner, H. G.; Vissers, L. E. L. M.; Kleefstra, T.; Weksberg, R.; Banka, S. | 2024-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | Manuscript_KMT2C_adjusted_after_review_clean.pdf |
| Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia | Ceroni, Fabiola; Osborne, Daniel; Clokie, Samuel; Bax, Dorine A; Cassidy, Emma J; Dunn, Matt J; H...arris, Christopher M; Self, Jay E; Ragge, Nicola K | 2022-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility |
Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scad...uto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli |
2022-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility | 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 | 2022-01-01 | FRONTIERS IN PSYCHIATRY | - | 1.01 Articolo in rivista | Viggiano et al.pdf; Data-Sheet_1.pdf |
| Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility | Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, ...Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini | 2022-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.pdf |
| Discovery of 42 genome-wide significant loci associated with dyslexia |
Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gök...berk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle; *Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu |
2022-01-01 | NATURE GENETICS | - | 1.01 Articolo in rivista | - |
| Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people | Eising, Else; Mirza-Schreiber, Nazanin; de Zeeuw, Eveline L; Wang, Carol A; Truong, Dongnhu T; Al...legrini, Andrea G; Shapland, Chin Yang; Zhu, Gu; Wigg, Karen G; Gerritse, Margot L; Molz, Barbara; Alagöz, Gökberk; Gialluisi, Alessandro; Abbondanza, Filippo; Rimfeld, Kaili; van Donkelaar, Marjolein; Liao, Zhijie; Jansen, Philip R; Andlauer, Till F M; Bates, Timothy C; Bernard, Manon; Blokland, Kirsten; Bonte, Milene; Børglum, Anders D; Bourgeron, Thomas; Brandeis, Daniel; Ceroni, Fabiola; Csépe, Valéria; Dale, Philip S; de Jong, Peter F; DeFries, John C; Démonet, Jean-François; Demontis, Ditte; Feng, Yu; Gordon, Scott D; Guger, Sharon L; Hayiou-Thomas, Marianna E; Hernández-Cabrera, Juan A; Hottenga, Jouke-Jan; Hulme, Charles; Kere, Juha; Kerr, Elizabeth N; Koomar, Tanner; Landerl, Karin; Leonard, Gabriel T; Lovett, Maureen W; Lyytinen, Heikki; Martin, Nicholas G; Martinelli, Angela; Maurer, Urs; Michaelson, Jacob J; Moll, Kristina; Monaco, Anthony P; Morgan, Angela T; Nöthen, Markus M; Pausova, Zdenka; Pennell, Craig E; Pennington, Bruce F; Price, Kaitlyn M; Rajagopal, Veera M; Ramus, Franck; Richer, Louis; Simpson, Nuala H; Smith, Shelley D; Snowling, Margaret J; Stein, John; Strug, Lisa J; Talcott, Joel B; Tiemeier, Henning; van der Schroeff, Marc P; Verhoef, Ellen; Watkins, Kate E; Wilkinson, Margaret; Wright, Margaret J; Barr, Cathy L; Boomsma, Dorret I; Carreiras, Manuel; Franken, Marie-Christine J; Gruen, Jeffrey R; Luciano, Michelle; Müller-Myhsok, Bertram; Newbury, Dianne F; Olson, Richard K; Paracchini, Silvia; Paus, Tomáš; Plomin, Robert; Reilly, Sheena; Schulte-Körne, Gerd; Tomblin, J Bruce; van Bergen, Elsje; Whitehouse, Andrew J O; Willcutt, Erik G; St Pourcain, Beate; Francks, Clyde; Fisher, Simon E | 2022-01-01 | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | - | 1.01 Articolo in rivista | - |
| An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. | 2021-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | jcmm.16161.pdf |
| Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits | Zha C.; Farah C.A.; Holt R.J.; Ceroni F.; Al-Abdi L.; Thuriot F.; Khan A.O.; Helaby R.; Levesque ...S.; Alkuraya F.S.; Kraus A.; Ragge N.K.; Sossin W.S. | 2020-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
| De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies | Holt R.J.; Young R.M.; Crespo B.; Ceroni F.; Curry C.J.; Bellacchio E.; Bax D.A.; Ciolfi A.; Simo...n M.; Fagerberg C.R.; van Binsbergen E.; De Luca A.; Memo L.; Dobyns W.B.; Mohammed A.A.; Clokie S.J.H.; Zazo Seco C.; Jiang Y.-H.; Sorensen K.P.; Andersen H.; Sullivan J.; Powis Z.; Chassevent A.; Smith-Hicks C.; Petrovski S.; Antoniadi T.; Shashi V.; Gelb B.D.; Wilson S.W.; Gerrelli D.; Tartaglia M.; Chassaing N.; Calvas P.; Ragge N.K. | 2019-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia | Plaisancie J.; Ceroni F.; Holt R.; Zazo Seco C.; Calvas P.; Chassaing N.; Ragge N.K. | 2019-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies | Ceroni F.; Aguilera-Garcia D.; Chassaing N.; Bax D.A.; Blanco-Kelly F.; Ramos P.; Tarilonte M.; V...illaverde C.; da Silva L.R.J.; Ballesta-Martinez M.J.; Sanchez-Soler M.J.; Holt R.J.; Cooper-Charles L.; Bruty J.; Wallis Y.; McMullan D.; Hoffman J.; Bunyan D.; Stewart A.; Stewart H.; Lachlan K.; Fryer A.; McKay V.; Roume J.; Dureau P.; Saggar A.; Griffiths M.; Calvas P.; Ayuso C.; Corton M.; Ragge N.K. | 2019-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders | Holt R.; Ceroni F.; Bax D.A.; Broadgate S.; Diaz D.G.; Santos C.; Gerrelli D.; Ragge N.K. | 2017-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-017-08397-w.pdf |
| Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation | Prekovic S.; Durdevic D.F.; Csifcsak G.; Sveljo O.; Stojkovic O.; Jankovic M.; Koprivsek K.; Covi...ll L.E.; Lucic M.; Van Den Broeck T.; Helsen C.; Ceroni F.; Claessens F.; Newbury D.F. | 2016-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | srep20369.pdf |
| Genome-wide analysis identifies a role for common copy number variants in specific language impairment | Simpson N.H.; Ceroni F.; Reader R.H.; Covill L.E.; Knight J.C.; Nudel R.; Monaco A.P.; Simonoff E....; Pickles A.; Slonims V.; Dworzynski K.; Everitt A.; Clark A.; Watson J.; Seckl J.; Cowie H.; Cohen W.; Nasir J.; Bishop D.V.M.; Simkin Z; Hennessy E.R.; Bolton P.F.; Conti-Ramsden G.; O'Hare A.; Baird G.; Fisher S.E.; Newbury D.F. | 2015-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' | Ceroni, Fabiola; Simpson, Nuala H.; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, A...nn; 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. | 2015-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. | Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Bat...taglia A;Maestrini E | 2014-01-01 | JOURNAL OF NEURODEVELOPMENTAL DISORDERS | - | 1.01 Articolo in rivista | 1866-1955-6-17.pdf |
| A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. | Ceroni F;Sagar A;Simpson NH;Gawthrope AJ;Newbury DF;Pinto D;Francis SM;Tessman DC;Cook EH;Monaco ...AP;Maestrini E;Pagnamenta AT;Jacob S | 2014-01-01 | AUTISM RESEARCH | - | 1.01 Articolo in rivista | - |
| Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. | Ceroni F; Simpson NH; Francks C; Baird G; Conti-Ramsden G; Clark A; Bolton PF; Hennessy ER; Donne...lly P; Bentley DR; Martin H; Parr J; Pagnamenta AT; Maestrini E; Bacchelli E; Fisher SE; Newbury DF | 2014-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |