Sfoglia per Autore
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
2024-01-01 Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
2023-01-01 Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro
Adult experiences in Beckwith-Wiedemann syndrome
2023-01-01 Drust, William A; Mussa, Alessandro; Gazzin, Andrea; Lapunzina, Pablo; Tenorio-Castaño, Jair; Nevado, Julian; Pascual, Patricia; Arias, Pedro; Parra, Alejandro; Getz, Kelly D; Kalish, Jennifer M
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
2023-01-01 Saglia, Claudia; Bracciamà, Valeria; Trotta, Luca; Mioli, Fiorenza; Faini, Angelo Corso; Brach Del Prever, Giulia Margherita; Kalantari, Silvia; Luca, Maria; Romeo, Carmelo Maria; Scolari, Caterina; Peruzzi, Licia; Calvo, Pier Luigi; Mussa, Alessandro; Fenoglio, Roberta; Roccatello, Dario; Alberti, Claudio; Carli, Diana; Amoroso, Antonio; Deaglio, Silvia; Vaisitti, Tiziana
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
2023-01-01 Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia
Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue
2023-01-01 Mussa, Alessandro; Kalish, Jennifer M
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene
2023-01-01 Karimi, Karim; Mol, Merel O; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H; Tedder, Matthew L; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M; Bouman, Arjan; Sadikovic, Bekim
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
2023-01-01 Luca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
2023-01-01 Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
2023-01-01 Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians
2022-01-01 Defabianis, Patrizia; Mussa, Alessandro; Ninivaggi, Rossella; Carli, Diana; Romano, Federica
Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism
2022-01-01 Esposito, Andrea; Vigone, Maria Cristina; Polizzi, Miriam; Wasniewska, Malgorzata Gabriela; Cassio, Alessandra; Mussa, Alessandro; Gastaldi, Roberto; Di Mase, Raffaella; Vincenzi, Gaia; Pozzi, Clara; Peroni, Elena; Bravaccio, Carmela; Capalbo, Donatella; Bruzzese, Dario; Salerno, Mariacarolina
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
2022-01-01 Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Vallero, Stefano Gabriele; Bertin, Daniele; Santoro, Federica; Carli, Diana; Ferrero, Giovanni Battista; Resta, Nicoletta
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease
2022-01-01 Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome
2022-01-01 Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
2022-01-01 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Epilepsy in a cohort of children with Noonan syndrome and related disorders
2022-01-01 Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2022-01-01 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome | 2024 | Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T | |
| Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association | 2023 | Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro | |
| Adult experiences in Beckwith-Wiedemann syndrome | 2023 | Drust, William A; Mussa, Alessandro; Gazzin, Andrea; Lapunzina, Pablo; Tenorio-Castaño, Jair; Nevado, Julian; Pascual, Patricia; Arias, Pedro; Parra, Alejandro; Getz, Kelly D; Kalish, Jennifer M | |
| Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure | 2023 | Saglia, Claudia; Bracciamà, Valeria; Trotta, Luca; Mioli, Fiorenza; Faini, Angelo Corso; Brach Del Prever, Giulia Margherita; Kalantari, Silvia; Luca, Maria; Romeo, Carmelo Maria; Scolari, Caterina; Peruzzi, Licia; Calvo, Pier Luigi; Mussa, Alessandro; Fenoglio, Roberta; Roccatello, Dario; Alberti, Claudio; Carli, Diana; Amoroso, Antonio; Deaglio, Silvia; Vaisitti, Tiziana | |
| Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome | 2023 | Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia | |
| Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue | 2023 | Mussa, Alessandro; Kalish, Jennifer M | |
| Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene | 2023 | Karimi, Karim; Mol, Merel O; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H; Tedder, Matthew L; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M; Bouman, Arjan; Sadikovic, Bekim | |
| The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth | 2023 | Luca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) | 2023 | Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro | |
| Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development | 2023 | Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians | 2022 | Defabianis, Patrizia; Mussa, Alessandro; Ninivaggi, Rossella; Carli, Diana; Romano, Federica | |
| Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism | 2022 | Esposito, Andrea; Vigone, Maria Cristina; Polizzi, Miriam; Wasniewska, Malgorzata Gabriela; Cassio, Alessandra; Mussa, Alessandro; Gastaldi, Roberto; Di Mase, Raffaella; Vincenzi, Gaia; Pozzi, Clara; Peroni, Elena; Bravaccio, Carmela; Capalbo, Donatella; Bruzzese, Dario; Salerno, Mariacarolina | |
| Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies | 2022 | Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Vallero, Stefano Gabriele; Bertin, Daniele; Santoro, Federica; Carli, Diana; Ferrero, Giovanni Battista; Resta, Nicoletta | |
| Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease | 2022 | Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B. | |
| Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome | 2022 | Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques | 2022 | Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Epilepsy in a cohort of children with Noonan syndrome and related disorders | 2022 | Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista | |
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants | 2022 | Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta | |
| Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus | 2022 | Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A |
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