PERON, ANGELA
PERON, ANGELA
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation
2017 Ronzoni L.; Novelli A.; Brisighelli G.; Peron A.; Triulzi F.; Bianchi V.; Leva E.; Bedeschi M. F.
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature
2015 R. Caselli; L. Ballarati; A. Vignoli; A. Peron; M.P. Recalcati; I. Catusi; L. Larizza; D. Giardino
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021 Ilaria Catusi; Maria Garzo; Anna Paola Capra; Silvana Briuglia; Chiara Baldo; Maria Paola Canevini; Rachele Cantone; Flaviana Elia; Francesca Forzano; Ornella Galesi; Enrico Grosso; Michela Malacarne; Angela Peron; Corrado Romano; Monica Saccani; Lidia Larizza; Maria Paola Recalcati
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
2024 Moresco, Giada; Rondinone, Ornella; Mauri, Alessia; Gorgoglione, Rita; Graziani, Daniela Maria Grazia; Dziuback, Michal; Miozzo, Monica Rosa; Sirchia, Silvia Maria; Pietrogrande, Luca; Peron, Angela; Fontana, Laura
Aortic dilation in Sotos syndrome : an underestimated feature?
2020 Pezzani L.; Mauri L.; Selicorni A.; Peron A.; Grasso M.; Codazzi A. C.; Rimini A.; Marchisio P. G.; Coviello D.; Colli A.; Milani D.
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers
2015 A. Vignoli; F. La Briola; A. Peron; K. Turner; C. Vannicola; M. Saccani; E. Magnaghi; G. F. Scornavacca; M.P. Canevini
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021 Angela Peron; Felice D'Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Ange-Line Bruel (O)yvind L(o)vold Busk; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferrerira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Jane Hurst; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Marcinkute; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Bert B. A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World
2021 Stuart C.; Fladrowski C.; Flinn J.; Oberg B.; Peron A.; Rozenberg M.; Smith C. A.
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 Jain S.; Bakolitsa C.; Brenner S.E.; Radivojac P.; Moult J.; Repo S.; Hoskins R.A.; Andreoletti G.; Barsky D.; Chellapan A.; Chu H.; Dabbiru N.; Kollipara N.K.; Ly M.; Neumann A.J.; Pal L.R.; Odell E.; Pandey G.; Peters-Petrulewicz R.C.; Srinivasan R.; Yee S.F.; Yeleswarapu S.J.; Zuhl M.; Adebali O.; Patra A.; Beer M.A.; Hosur R.; Peng J.; Bernard B.M.; Berry M.; Dong S.; Boyle A.P.; Adhikari A.; Chen J.; Hu Z.; Wang R.; Wang Y.; Miller M.; Wang Y.; Bromberg Y.; Turina P.; Capriotti E.; Han J.J.; Ozturk K.; Carter H.; Babbi G.; Bovo S.; Di Lena P.; Martelli P.L.; Savojardo C.; Casadio R.; Cline M.S.; De Baets G.; Bonache S.; Diez O.; Gutierrez-Enriquez S.; Fernandez A.; Montalban G.; Ootes L.; Ozkan S.; Padilla N.; Riera C.; De la Cruz X.; Diekhans M.; Huwe P.J.; Wei Q.; Xu Q.; Dunbrack R.L.; Gotea V.; Elnitski L.; Margolin G.; Fariselli P.; Kulakovskiy I.V.; Makeev V.J.; Penzar D.D.; Vorontsov I.E.; Favorov A.V.; Forman J.R.; Hasenahuer M.; Fornasari M.S.; Parisi G.; Avsec Z.; Celik M.H.; Nguyen T.Y.D.; Gagneur J.; Shi F.-Y.; Edwards M.D.; Guo Y.; Tian K.; Zeng H.; Gifford D.K.; Goke J.; Zaucha J.; Gough J.; Ritchie G.R.S.; Frankish A.; Mudge J.M.; Harrow J.; Young E.L.; Yu Y.; Huff C.D.; Murakami K.; Nagai Y.; Imanishi T.; Mungall C.J.; Jacobsen J.O.B.; Kim D.; Jeong C.-S.; Jones D.T.; Li M.J.; Guthrie V.B.; Bhattacharya R.; Chen Y.-C.; Douville C.; Fan J.; Kim D.; Masica D.; Niknafs N.; Sengupta S.; Tokheim C.; Turner T.N.; Yeo H.T.G.; Karchin R.; Shin S.; Welch R.; Keles S.; Li Y.; Kellis M.; Corbi-Verge C.; Strokach A.V.; Kim P.M.; Klein T.E.; Mohan R.; Sinnott-Armstrong N.A.; Wainberg M.; Kundaje A.; Gonzaludo N.; Mak A.C.Y.; Chhibber A.; Lam H.Y.K.; Dahary D.; Fishilevich S.; Lancet D.; Lee I.; Bachman B.; Katsonis P.; Lua R.C.; Wilson S.J.; Lichtarge O.; Bhat R.R.; Sundaram L.; Viswanath V.; Bellazzi R.; Nicora G.; Rizzo E.; Limongelli I.; Mezlini A.M.; Chang R.; Kim S.; Lai C.; O'Connor R.; Topper S.; van den Akker J.; Zhou A.Y.; Zimmer A.D.; Mishne G.; Bergquist T.R.; Breese M.R.; Guerrero R.F.; Jiang Y.; Kiga N.; Li B.; Mort M.; Pagel K.A.; Pejaver V.; Stamboulian M.H.; Thusberg J.; Mooney S.D.; Teerakulkittipong N.; Cao C.; Kundu K.; Yin Y.; Yu C.-H.; Kleyman M.; Lin C.-F.; Stackpole M.; Mount S.M.; Eraslan G.; Mueller N.S.; Naito T.; Rao A.R.; Azaria J.R.; Brodie A.; Ofran Y.; Garg A.; Pal D.; Hawkins-Hooker A.; Kenlay H.; Reid J.; Mucaki E.J.; Rogan P.K.; Schwarz J.M.; Searls D.B.; Lee G.R.; Seok C.; Kramer A.; Shah S.; Huang C.V.; Kirsch J.F.; Shatsky M.; Cao Y.; Chen H.; Karimi M.; Moronfoye O.; Sun Y.; Shen Y.; Shigeta R.; Ford C.T.; Nodzak C.; Uppal A.; Shi X.; Joseph T.; Kotte S.; Rana S.; Rao A.; Saipradeep V.G.; Sivadasan N.; Sunderam U.; Stanke M.; Su A.; Adzhubey I.; Jordan D.M.; Sunyaev S.; Rousseau F.; Schymkowitz J.; Van Durme J.; Tavtigian S.V.; Carraro M.; Giollo M.; Tosatto S.C.E.; Adato O.; Carmel L.; Cohen N.E.; Fenesh T.; Holtzer T.; Juven-Gershon T.; Unger R.; Niroula A.; Olatubosun A.; Valiaho J.; Yang Y.; Vihinen M.; Wahl M.E.; Chang B.; Chong K.C.; Hu I.; Sun R.; Wu W.K.K.; Xia X.; Zee B.C.; Wang M.H.; Wang M.; Wu C.; Lu Y.; Chen K.; Yang Y.; Yates C.M.; Kreimer A.; Yan Z.; Yosef N.; Zhao H.; Wei Z.; Yao Z.; Zhou F.; Folkman L.; Zhou Y.; Daneshjou R.; Altman R.B.; Inoue F.; Ahituv N.; Arkin A.P.; Lovisa F.; Bonvini P.; Bowdin S.; Gianni S.; Mantuano E.; Minicozzi V.; Novak L.; Pasquo A.; Pastore A.; Petrosino M.; Puglisi R.; Toto A.; Veneziano L.; Chiaraluce R.; Ball M.P.; Bobe J.R.; Church G.M.; Consalvi V.; Cooper D.N.; Buckley B.A.; Sheridan M.B.; Cutting G.R.; Scaini M.C.; Cygan K.J.; Fredericks A.M.; Glidden D.T.; Neil C.; Rhine C.L.; Fairbrother W.G.; Alontaga A.Y.; Fenton A.W.; Matreyek K.A.; Starita L.M.; Fowler D.M.; Loscher B.-S.; Franke A.; Adamson S.I.; Graveley B.R.; Gray J.W.; Malloy M.J.; Kane J.P.; Kousi M.; Katsanis N.; Schubach M.; Kircher M.; Mak A.C.Y.; Tang P.L.F.; Kwok P.-Y.; Lathrop R.H.; Clark W.T.; Yu G.K.; LeBowitz J.H.; Benedicenti F.; Bettella E.; Bigoni S.; Cesca F.; Mammi I.; Marino-Buslje C.; Milani D.; Peron A.; Polli R.; Sartori S.; Stanzial F.; Toldo I.; Turolla L.; Aspromonte M.C.; Bellini M.; Leonardi E.; Liu X.; Marshall C.; McCombie W.R.; Elefanti L.; Menin C.; Meyn M.S.; Murgia A.; Nadeau K.C.Y.; Neuhausen S.L.; Nussbaum R.L.; Pirooznia M.; Potash J.B.; Dimster-Denk D.F.; Rine J.D.; Sanford J.R.; Snyder M.; Cote A.G.; Sun S.; Verby M.W.; Weile J.; Roth F.P.; Tewhey R.; Sabeti P.C.; Campagna J.; Refaat M.M.; Wojciak J.; Grubb S.; Schmitt N.; Shendure J.; Spurdle A.B.; Stavropoulos D.J.; Walton N.A.; Zandi P.P.; Ziv E.; Burke W.; Chen F.; Carr L.R.; Martinez S.; Paik J.; Harris-Wai J.; Yarborough M.; Fullerton S.M.; Koenig B.A.; McInnes G.; Shigaki D.; Chandonia J.-M.; Furutsuki M.; Kasak L.; Yu C.; Chen R.; Friedberg I.; Getz G.A.; Cong Q.; Kinch L.N.; Zhang J.; Grishin N.V.; Voskanian A.; Kann M.G.; Tran E.; Ioannidis N.M.; Hunter J.M.; Udani R.; Cai B.; Morgan A.A.; Sokolov A.; Stuart J.M.; Minervini G.; Monzon A.M.; Batzoglou S.; Butte A.J.; Greenblatt M.S.; Hart R.K.; Hernandez R.; Hubbard T.J.P.; Kahn S.; O'Donnell-Luria A.; Ng P.C.; Shon J.; Veltman J.; Zook J.M.
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
2024 Romito, Luigi M; Colucci, Fabiana; Leta, Valentina; Panteghini, Celeste; Telese, Roberta; Tolva, Gianluca; Villa, Roberta; Elia, Antonio E; Eleopra, Roberto; Peron, Angela; Garavaglia, Barbara; Iascone, Maria
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte M. C.; Bellini M.; Gasparini A.; Carraro M.; Bettella E.; Polli R.; Cesca F.; Bigoni S.; Boni S.; Carlet O.; Negrin S.; Mammi I.; Milani D.; Peron A.; Sartori S.; Toldo I.; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; Marino-Buslje C.; Tosatto S. C. E.; Murgia A.; Leonardi E.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
2023 Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 Parodi, Chiara; Di Fede, Elisabetta; Peron, Angela; Viganò, Ilaria; Grazioli, Paolo; Castiglioni, Silvia; Finnell, Richard H.; Gervasini, Cristina; Vignoli, Aglaia; Massa, Valentina
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature
2024 Ferrera, Giulia; Ricci, Emilia; Peron, Angela; Parrini, Elena; Vignoli, Aglai; Canevini, Maria Paola
Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320"
2014 Peron A.; Schwartz C. E.
Current concepts on epilepsy management in tuberous sclerosis complex
2018 Canevini M. P.; Kotulska-Jozwiak K.; Curatolo P.; La Briola F.; Peron A.; Slowinska M.; Strzelecka J.; Vignoli A.; Jozwiak S.
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
2020 Scala M.; Zonneveld-Huijssoon E.; Brienza M.; Mecarelli O.; van der Hout A. H.; Zambrelli E.; Turner K.; Zara F.; Peron A.; Vignoli A.; Striano P.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
2020 Cappuccio G.; Sayou C.; Tanno P. L.; Tisserant E.; Bruel A. -L.; Kennani S. E.; Sa J.; Low K. J.; Dias C.; Havlovicova M.; Hancarova M.; Eichler E. E.; Devillard F.; Moutton S.; Van-Gils J.; Dubourg C.; Odent S.; Gerard B.; Piton A.; Yamamoto T.; Okamoto N.; Firth H.; Metcalfe K.; Moh A.; Chapman K. A.; Aref-Eshghi E.; Kerkhof J.; Torella A.; Nigro V.; Perrin L.; Piard J.; Le Guyader G.; Jouan T.; Thauvin-Robinet C.; Duffourd Y.; George-Abraham J. K.; Buchanan C. A.; Williams D.; Kini U.; Wilson K.; Nigro V.; Brunetti-Pierri N.; Casari G.; Cappuccio G.; Torella A.; Pinelli M.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Capra V.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Peron A.; Pantaleoni C.; Castello R.; D'Arrigo S.; Sousa S. B.; Hennekam R. C. M.; Sadikovic B.; Thevenon J.; Govin J.; Vitobello A.; Brunetti-Pierri N.
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
2018 Peron, Angela; Vignoli, Aglaia; Briola, Francesca La; Morenghi, Emanuela; Tansini, Lucia; Alfano, Rosa Maria; Bulfamante, Gaetano; Terraneo, Silvia; Ghelma, Filippo; Banderali, Giuseppe; Viskochil, David H.; Carey, John C.; Canevini, Maria Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation | 2017 | Ronzoni L.; Novelli A.; Brisighelli G.; Peron A.; Triulzi F.; Bianchi V.; Leva E.; Bedeschi M. F. | |
| 7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature | 2015 | R. Caselli; L. Ballarati; A. Vignoli; A. Peron; M.P. Recalcati; I. Catusi; L. Larizza; D. Giardino | |
| 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature | 2021 | Ilaria Catusi; Maria Garzo; Anna Paola Capra; Silvana Briuglia; Chiara Baldo; Maria Paola Canevini; Rachele Cantone; Flaviana Elia; Francesca Forzano; Ornella Galesi; Enrico Grosso; Michela Malacarne; Angela Peron; Corrado Romano; Monica Saccani; Lidia Larizza; Maria Paola Recalcati | |
| A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity | 2024 | Moresco, Giada; Rondinone, Ornella; Mauri, Alessia; Gorgoglione, Rita; Graziani, Daniela Maria Grazia; Dziuback, Michal; Miozzo, Monica Rosa; Sirchia, Silvia Maria; Pietrogrande, Luca; Peron, Angela; Fontana, Laura | |
| Aortic dilation in Sotos syndrome : an underestimated feature? | 2020 | Pezzani L.; Mauri L.; Selicorni A.; Peron A.; Grasso M.; Codazzi A. C.; Rimini A.; Marchisio P. G.; Coviello D.; Colli A.; Milani D. | |
| Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers | 2015 | A. Vignoli; F. La Briola; A. Peron; K. Turner; C. Vannicola; M. Saccani; E. Magnaghi; G. F. Scornavacca; M.P. Canevini | |
| BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | 2021 | Angela Peron; Felice D'Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Ange-Line Bruel (O)yvind L(o)vold Busk; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferrerira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Jane Hurst; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Marcinkute; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Bert B. A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias | |
| BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | 2024 | Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina | |
| Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World | 2021 | Stuart C.; Fladrowski C.; Flinn J.; Oberg B.; Peron A.; Rozenberg M.; Smith C. A. | |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods | 2024 | Jain S.; Bakolitsa C.; Brenner S.E.; Radivojac P.; Moult J.; Repo S.; Hoskins R.A.; Andreoletti G.; Barsky D.; Chellapan A.; Chu H.; Dabbiru N.; Kollipara N.K.; Ly M.; Neumann A.J.; Pal L.R.; Odell E.; Pandey G.; Peters-Petrulewicz R.C.; Srinivasan R.; Yee S.F.; Yeleswarapu S.J.; Zuhl M.; Adebali O.; Patra A.; Beer M.A.; Hosur R.; Peng J.; Bernard B.M.; Berry M.; Dong S.; Boyle A.P.; Adhikari A.; Chen J.; Hu Z.; Wang R.; Wang Y.; Miller M.; Wang Y.; Bromberg Y.; Turina P.; Capriotti E.; Han J.J.; Ozturk K.; Carter H.; Babbi G.; Bovo S.; Di Lena P.; Martelli P.L.; Savojardo C.; Casadio R.; Cline M.S.; De Baets G.; Bonache S.; Diez O.; Gutierrez-Enriquez S.; Fernandez A.; Montalban G.; Ootes L.; Ozkan S.; Padilla N.; Riera C.; De la Cruz X.; Diekhans M.; Huwe P.J.; Wei Q.; Xu Q.; Dunbrack R.L.; Gotea V.; Elnitski L.; Margolin G.; Fariselli P.; Kulakovskiy I.V.; Makeev V.J.; Penzar D.D.; Vorontsov I.E.; Favorov A.V.; Forman J.R.; Hasenahuer M.; Fornasari M.S.; Parisi G.; Avsec Z.; Celik M.H.; Nguyen T.Y.D.; Gagneur J.; Shi F.-Y.; Edwards M.D.; Guo Y.; Tian K.; Zeng H.; Gifford D.K.; Goke J.; Zaucha J.; Gough J.; Ritchie G.R.S.; Frankish A.; Mudge J.M.; Harrow J.; Young E.L.; Yu Y.; Huff C.D.; Murakami K.; Nagai Y.; Imanishi T.; Mungall C.J.; Jacobsen J.O.B.; Kim D.; Jeong C.-S.; Jones D.T.; Li M.J.; Guthrie V.B.; Bhattacharya R.; Chen Y.-C.; Douville C.; Fan J.; Kim D.; Masica D.; Niknafs N.; Sengupta S.; Tokheim C.; Turner T.N.; Yeo H.T.G.; Karchin R.; Shin S.; Welch R.; Keles S.; Li Y.; Kellis M.; Corbi-Verge C.; Strokach A.V.; Kim P.M.; Klein T.E.; Mohan R.; Sinnott-Armstrong N.A.; Wainberg M.; Kundaje A.; Gonzaludo N.; Mak A.C.Y.; Chhibber A.; Lam H.Y.K.; Dahary D.; Fishilevich S.; Lancet D.; Lee I.; Bachman B.; Katsonis P.; Lua R.C.; Wilson S.J.; Lichtarge O.; Bhat R.R.; Sundaram L.; Viswanath V.; Bellazzi R.; Nicora G.; Rizzo E.; Limongelli I.; Mezlini A.M.; Chang R.; Kim S.; Lai C.; O'Connor R.; Topper S.; van den Akker J.; Zhou A.Y.; Zimmer A.D.; Mishne G.; Bergquist T.R.; Breese M.R.; Guerrero R.F.; Jiang Y.; Kiga N.; Li B.; Mort M.; Pagel K.A.; Pejaver V.; Stamboulian M.H.; Thusberg J.; Mooney S.D.; Teerakulkittipong N.; Cao C.; Kundu K.; Yin Y.; Yu C.-H.; Kleyman M.; Lin C.-F.; Stackpole M.; Mount S.M.; Eraslan G.; Mueller N.S.; Naito T.; Rao A.R.; Azaria J.R.; Brodie A.; Ofran Y.; Garg A.; Pal D.; Hawkins-Hooker A.; Kenlay H.; Reid J.; Mucaki E.J.; Rogan P.K.; Schwarz J.M.; Searls D.B.; Lee G.R.; Seok C.; Kramer A.; Shah S.; Huang C.V.; Kirsch J.F.; Shatsky M.; Cao Y.; Chen H.; Karimi M.; Moronfoye O.; Sun Y.; Shen Y.; Shigeta R.; Ford C.T.; Nodzak C.; Uppal A.; Shi X.; Joseph T.; Kotte S.; Rana S.; Rao A.; Saipradeep V.G.; Sivadasan N.; Sunderam U.; Stanke M.; Su A.; Adzhubey I.; Jordan D.M.; Sunyaev S.; Rousseau F.; Schymkowitz J.; Van Durme J.; Tavtigian S.V.; Carraro M.; Giollo M.; Tosatto S.C.E.; 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| Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder | 2024 | Romito, Luigi M; Colucci, Fabiana; Leta, Valentina; Panteghini, Celeste; Telese, Roberta; Tolva, Gianluca; Villa, Roberta; Elia, Antonio E; Eleopra, Roberto; Peron, Angela; Garavaglia, Barbara; Iascone, Maria | |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing | 2019 | Aspromonte M. C.; Bellini M.; Gasparini A.; Carraro M.; Bettella E.; Polli R.; Cesca F.; Bigoni S.; Boni S.; Carlet O.; Negrin S.; Mammi I.; Milani D.; Peron A.; Sartori S.; Toldo I.; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; Marino-Buslje C.; Tosatto S. C. E.; Murgia A.; Leonardi E. | |
| Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions | 2023 | Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R | |
| Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies | 2021 | Parodi, Chiara; Di Fede, Elisabetta; Peron, Angela; Viganò, Ilaria; Grazioli, Paolo; Castiglioni, Silvia; Finnell, Richard H.; Gervasini, Cristina; Vignoli, Aglaia; Massa, Valentina | |
| Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature | 2024 | Ferrera, Giulia; Ricci, Emilia; Peron, Angela; Parrini, Elena; Vignoli, Aglai; Canevini, Maria Paola | |
| Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320" | 2014 | Peron A.; Schwartz C. E. | |
| Current concepts on epilepsy management in tuberous sclerosis complex | 2018 | Canevini M. P.; Kotulska-Jozwiak K.; Curatolo P.; La Briola F.; Peron A.; Slowinska M.; Strzelecka J.; Vignoli A.; Jozwiak S. | |
| De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females | 2020 | Scala M.; Zonneveld-Huijssoon E.; Brienza M.; Mecarelli O.; van der Hout A. H.; Zambrelli E.; Turner K.; Zara F.; Peron A.; Vignoli A.; Striano P. | |
| De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome | 2020 | Cappuccio G.; Sayou C.; Tanno P. L.; Tisserant E.; Bruel A. -L.; Kennani S. E.; Sa J.; Low K. J.; Dias C.; Havlovicova M.; Hancarova M.; Eichler E. E.; Devillard F.; Moutton S.; Van-Gils J.; Dubourg C.; Odent S.; Gerard B.; Piton A.; Yamamoto T.; Okamoto N.; Firth H.; Metcalfe K.; Moh A.; Chapman K. A.; Aref-Eshghi E.; Kerkhof J.; Torella A.; Nigro V.; Perrin L.; Piard J.; Le Guyader G.; Jouan T.; Thauvin-Robinet C.; Duffourd Y.; George-Abraham J. K.; Buchanan C. A.; Williams D.; Kini U.; Wilson K.; Nigro V.; Brunetti-Pierri N.; Casari G.; Cappuccio G.; Torella A.; Pinelli M.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Capra V.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Peron A.; Pantaleoni C.; Castello R.; D'Arrigo S.; Sousa S. B.; Hennekam R. C. M.; Sadikovic B.; Thevenon J.; Govin J.; Vitobello A.; Brunetti-Pierri N. | |
| Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 | 2018 | Peron, Angela; Vignoli, Aglaia; Briola, Francesca La; Morenghi, Emanuela; Tansini, Lucia; Alfano, Rosa Maria; Bulfamante, Gaetano; Terraneo, Silvia; Ghelma, Filippo; Banderali, Giuseppe; Viskochil, David H.; Carey, John C.; Canevini, Maria Paola |