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7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPracella, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGiachino, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Clin & Biol Sci, Med Genet Unit, AOU S Luigi Gonzaga, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCelli, Luca论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Umberto I, Ctr Rare Dis, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyBaldo, Demetrio论文数: 0 引用数: 0 h-index: 0机构: AULSS2 Marca Trevigiana, Med Genet Unit, Treviso, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyTurolla, Licia论文数: 0 引用数: 0 h-index: 0机构: AULSS2 Marca Trevigiana, Med Genet Unit, Treviso, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy论文数: 引用数: h-index:机构:Salzano, Emanuela论文数: 0 引用数: 0 h-index: 0机构: AOOR Villa Sofia Cervello, Div Med Genet, Palermo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyBuse, Martina论文数: 0 引用数: 0 h-index: 0机构: AOOR Villa Sofia Cervello, Div Med Genet, Palermo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyLastella, Patrizia论文数: 0 引用数: 0 h-index: 0机构: UOC Med Interna Univ C Frugoni AOU Policlin Conso, Ctr Sovraziendale Malattie Rare, Bari, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyZollino, Marcella论文数: 0 引用数: 0 h-index: 0机构: Sacro Cuore Catholic Univ Rome, Inst Genom Med, Dept Life Sci & Publ Hlth, Rome, Italy Fdn IRCCS AOU Policlin A Gemelli, Med Genet Unit, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCantone, Rachele论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGrosso, Enrico论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyZonta, Andrea论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPasini, Barbara论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: AORN Antonio Cardarelli, Med & Lab Genet Unit, Naples, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyDe Maggio, Ilaria论文数: 0 引用数: 0 h-index: 0机构: AORN Antonio Cardarelli, Med & Lab Genet Unit, Naples, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPriolo, Manuela论文数: 0 引用数: 0 h-index: 0机构: Grande Osped Metropolitano Bianchi Melacrino More, Med Genet Unit, Reggio Di Calabria, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMammi, Corrado论文数: 0 引用数: 0 h-index: 0机构: Grande Osped Metropolitano Bianchi Melacrino More, Med Genet Unit, Reggio Di Calabria, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyFoiadelli, Thomas论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Policlin San Matteo, Clin Pediat, Pavia, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyTrabatti, Chiara论文数: 0 引用数: 0 h-index: 0机构: Azienda Socio Sanit Territoriale ASST Crema, Div Pediat, 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ItalyLodato, Valentina论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyDi Giosaffatte, Niccolo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMajore, Silvia论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Ctr Fragile Child, Dept Pediat, Como, San Fermo Della, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPetracca, Antonio论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyFusco, Carmela论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCelli, Mauro论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Umberto I, Ctr Rare Dis, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGuarnieri, Vito论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMicale, Lucia论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCastori, Marco论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy
- [29] Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossHUMAN MUTATION, 2018, 39 (11) : 1593 - 1613Oza, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USADiStefano, Marina T.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Harvard Med Sch, Boston, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAHemphill, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USACushman, Brandon J.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAGrant, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USASiegert, Rebecca K.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAShen, Jun论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Harvard Med Sch, Boston, MA USA Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAChapin, Alex论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USABoczek, Nicole J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USASchimmenti, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Otorhinolaryngol Clin Genom & Biochem & Mol, Rochester, MN USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAMurry, Jaclyn B.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAHasadsri, Linda论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USANara, Kiyomitsu论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, Tokyo, Japan Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAKenna, Margaret论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA Harvard Med Sch, Boston, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USABooth, Kevin T.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Interdisciplinary Grad Program Mol Med, Iowa City, IA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAAzaiez, Hela论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAGriffith, Andrew论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Deafness & Other Commun Disorders NIDCD, Audiol Unit, NIH, Bethesda, MD USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAAvraham, Karen B.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAKremer, Hannie论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Otorhinolaryngol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Harvard Med Sch, Boston, MA USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst MIT & Harvard, Cambridge, MA USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USAAmr, Sami S.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA Harvard Med Sch, Boston, MA USA Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USATayoun, Ahmad N. 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- [30] Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelinesGENOME BIOLOGY, 2017, 18Ghosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USAOak, Ninad论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA