MAGINI, PAMELA
MAGINI, PAMELA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Collaboratori
Familial DMRT1-related non-obstructive azoospermia: a case report
2024 Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni
Long read sequencing on its way to the routine diagnostics of genetic diseases
2024 Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela
Characterization of BRCA Deficiency in Ovarian Cancer
2023 Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone, Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield
2023 Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graziano, Marco seri, Pamela Magini
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
2023 Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
2022 Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y.-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
2022 Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association
2022 Pelleri, Maria Chiara; Locatelli, Chiara; Mattina, Teresa; Bonaglia, Maria Clara; Piazza, Francesca; Magini, Pamela; Antonaros, Francesca; Ramacieri, Giuseppe; Vione, Beatrice; Vitale, Lorenza; Seri, Marco; Strippoli, Pierluigi; Cocchi, Guido; Piovesan, Allison; Caracausi, Maria
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.
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature
2021 Zama D.; Muratore E.; Giannetti A.; Neri I.; Conti F.; Magini P.; Ferrari S.; Pession A.
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5)
2021 Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco A.; Graziano C.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
2021 Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
2020 Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L.; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
2020 Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; Cantalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M.
Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007)
2020 Magini Pamela; Scarano Emanuela; Donati I.; Sensi A.; Mazzanti Laura; Perri Annamaria; Tamburrino Federica; Mongelli P.; Percesepe A.; Visconti Paola; Parmeggiani Antonia; Seri Marco; Graziano Claudio
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells
2020 Bertulli C.; Marzollo A.; Doria M.; Cesare S.D.; La Scola C.; Mencarelli F.; Pasini A.; Affinita M.C.; Vidal E.; Magini P.; Dimartino P.; Masetti R.; Greco L.; Palomba P.; Conti F.; Pession A.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
2020 Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
2019 Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
2019 Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
2019 Magini P.; Smits D.J.; Vandervore L.; Schot R.; Columbaro M.; Kasteleijn E.; van der Ent M.; Palombo F.; Lequin M.H.; Dremmen M.; de Wit M.C.Y.; Severino M.; Divizia M.T.; Striano P.; Ordonez-Herrera N.; Alhashem A.; Al Fares A.; Al Ghamdi M.; Rolfs A.; Bauer P.; Demmers J.; Verheijen F.W.; Wilke M.; van Slegtenhorst M.; van der Spek P.J.; Seri M.; Jansen A.C.; Stottmann R.W.; Hufnagel R.B.; Hopkin R.J.; Aljeaid D.; Wiszniewski W.; Gawlinski P.; Laure-Kamionowska M.; Alkuraya F.S.; Akleh H.; Stanley V.; Musaev D.; Gleeson J.G.; Zaki M.S.; Brunetti-Pierri N.; Cappuccio G.; Davidov B.; Basel-Salmon L.; Bazak L.; Shahar N.R.; Bertoli-Avella A.; Mirzaa G.M.; Dobyns W.B.; Pippucci T.; Fornerod M.; Mancini G.M.S.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Familial DMRT1-related non-obstructive azoospermia: a case report | Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni | 2024-01-01 | JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | - | 1.01 Articolo in rivista | - |
| Long read sequencing on its way to the routine diagnostics of genetic diseases | Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Mag...ini, Pamela | 2024-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | fgene-15-1374860.pdf |
| Characterization of BRCA Deficiency in Ovarian Cancer | Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone..., Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela | 2023-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-15-01530-v2.pdf; cancers-15-01530-s001 (1).zip |
| Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield | Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graz...iano, Marco seri, Pamela Magini | 2023-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | - |
| Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup | Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nar...di, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso | 2023-01-01 | HAEMATOLOGICA | - | 1.01 Articolo in rivista | 10900-Article Text-79827-2-10-20230629.pdf; 10900.zip |
| Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy | Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y....-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T. | 2022-01-01 | BRAIN | - | 1.01 Articolo in rivista | awac082.pdf; awac082_supplementary_data.zip |
| HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations | Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magin...i, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y | 2022-01-01 | GENOME RESEARCH | - | 1.01 Articolo in rivista | Genome Res.-2022-Hirsch-1242-53.pdf; suppl.zip |
| Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association | Pelleri, Maria Chiara; Locatelli, Chiara; Mattina, Teresa; Bonaglia, Maria Clara; Piazza, Frances...ca; Magini, Pamela; Antonaros, Francesca; Ramacieri, Giuseppe; Vione, Beatrice; Vitale, Lorenza; Seri, Marco; Strippoli, Pierluigi; Cocchi, Guido; Piovesan, Allison; Caracausi, Maria | 2022-01-01 | BMC MEDICAL GENOMICS | - | 1.01 Articolo in rivista | 12920_2022_Article_1422.pdf; 12920_2022_1422_MOESM1_ESM.docx |
| 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 |
| Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature | Zama D.; Muratore E.; Giannetti A.; Neri I.; Conti F.; Magini P.; Ferrari S.; Pession A. | 2021-01-01 | FRONTIERS IN PEDIATRICS | - | 1.01 Articolo in rivista | fped-09-716786.pdf |
| Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) | Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco... A.; Graziano C. | 2021-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy | Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kriste...n J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima | 2021-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes | Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L....; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F. | 2020-01-01 | MOLECULAR DIAGNOSIS & THERAPY | - | 1.01 Articolo in rivista | - |
| Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East | Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M. | 2020-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | s00439-020-02187-7.pdf; Palombo_2020_AM.pdf |
| Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007) | Magini Pamela; Scarano Emanuela; Donati I.; Sensi A.; Mazzanti Laura; Perri Annamaria; Tamburrino... Federica; Mongelli P.; Percesepe A.; Visconti Paola; Parmeggiani Antonia; Seri Marco; Graziano Claudio | 2020-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells | Bertulli C.; Marzollo A.; Doria M.; Cesare S.D.; La Scola C.; Mencarelli F.; Pasini A.; Affinita ...M.C.; Vidal E.; Magini P.; Dimartino P.; Masetti R.; Greco L.; Palomba P.; Conti F.; Pession A. | 2020-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | ijms-21-08604-v2.pdf |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder | Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Aless...andra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio | 2020-01-01 | THE JOURNAL OF CLINICAL INVESTIGATION | - | 1.01 Articolo in rivista | SSBP1 mutations_postprint.pdf |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders |
Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, ...Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano |
2019-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders | Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiell...o G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C. | 2019-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis | Magini P.; Smits D.J.; Vandervore L.; Schot R.; Columbaro M.; Kasteleijn E.; van der Ent M.; Palo...mbo F.; Lequin M.H.; Dremmen M.; de Wit M.C.Y.; Severino M.; Divizia M.T.; Striano P.; Ordonez-Herrera N.; Alhashem A.; Al Fares A.; Al Ghamdi M.; Rolfs A.; Bauer P.; Demmers J.; Verheijen F.W.; Wilke M.; van Slegtenhorst M.; van der Spek P.J.; Seri M.; Jansen A.C.; Stottmann R.W.; Hufnagel R.B.; Hopkin R.J.; Aljeaid D.; Wiszniewski W.; Gawlinski P.; Laure-Kamionowska M.; Alkuraya F.S.; Akleh H.; Stanley V.; Musaev D.; Gleeson J.G.; Zaki M.S.; Brunetti-Pierri N.; Cappuccio G.; Davidov B.; Basel-Salmon L.; Bazak L.; Shahar N.R.; Bertoli-Avella A.; Mirzaa G.M.; Dobyns W.B.; Pippucci T.; Fornerod M.; Mancini G.M.S. | 2019-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |