ACCOGLI, ANDREA
ACCOGLI, ANDREA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy?
2022-01-01 Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion
2019-01-01 Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V.
A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions
2018-01-01 Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
2023-01-01 Scorrano, G.; D'Onofrio, G.; Accogli, A.; Severino, M.; Buchert, R.; Kotzaeridou, U.; Iapadre, G.; Farello, G.; Iacomino, M.; Dono, F.; Di Francesco, L.; Fiorile, M. F.; La Bella, S.; Corsello, A.; Cali, E.; Di Rosa, G.; Gitto, E.; Verrotti, A.; Fortuna, S.; Soler, M. A.; Chiarelli, F.; Oehl-Jaschkowitz, B.; Haack, T. B.; Zara, F.; Striano, P.; Salpietro, V.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
2022-01-01 Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
2021-01-01 Pavanello, M.; Fiaschi, P.; Accogli, A.; Severino, M.; Tortora, D.; Piatelli, G.; Capra, V.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
2022-01-01 Naim, Alessandro; Accogli, Andrea; Amadori, Elisabetta; D'Onofrio, Gianluca; Madia, Francesca; Tortora, Domenico; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo; Severino, Mariasavina
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders
2024-01-01 Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report
2021-01-01 Trevisan, L.; Grazzini, M.; Cianflone, A.; Accogli, A.; Finocchi, C.; Capello, E.; Saitta, L.; Grandis, M.; Roccatagliata, L.; Mandich, P.
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
2015-01-01 Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
2021-01-01 Masnada, S.; Pichiecchio, A.; Formica, M.; Arrigoni, F.; Borrelli, P.; Accorsi, P.; Bonanni, P.; Borgatti, R.; Bernardina, B. D.; Danieli, A.; Darra, F.; Deconinck, N.; De Giorgis, V.; Dulac, O.; Gataullina, S.; Giordano, L.; Guerrini, R.; La Briola, F.; Mastrangelo, M.; Montomoli, M.; Mortilla, M.; Osanni, E.; Parisi, P.; Perucca, E.; Pinelli, L.; Romaniello, R.; Severino, M.; Vigevano, F.; Vignoli, A.; Bahi-Buisson, N.; Cavallin, M.; Accogli, A.; Burgeois, M.; Capra, V.; Chaves-Vischer, V.; Chiapparini, L.; Colafati, G.; D'Arrigo, S.; Desguerre, I.; Doco-Fenzy, M.; D'Orsi, G.; Epitashvili, N.; Fazzi, E.; Ferretti, A.; Fiorini, E.; Fradin, M.; Fusco, C.; Granata, T.; Johannesen, K. M.; Lebon, S.; Loget, P.; Moller, R. S.; Montanaro, D.; Orcesi, S.; Quelin, C.; Rebessi, E.; Romeo, A.; Solazzi, R.; Spagnoli, C.; Uebler, C.; Zara, F.; Arzimanoglou, A.; Veggiotti, P.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2025-01-01 Peron, A.; D'Arco, F.; Aldinger, K. A.; Smith-Hicks, C.; Zweier, C.; Gradek, G. A.; Bradbury, K.; Accogli, A.; Andersen, E. F.; Au, P. Y. B.; Battini, R.; Beleford, D.; Bird, L. M.; Bouman, A.; Bruel, A. -L.; Busk, O. L.; Campeau, P. M.; Capra, V.; Carlston, C.; Carmichael, J.; Chassevent, A.; Clayton-Smith, J.; Bamshad, M. J.; Earl, D. L.; Faivre, L.; Philippe, C.; Ferreira, P.; Graul-Neumann, L.; Green, M. J.; Haffner, D.; Haldipur, P.; Hanna, S.; Houge, G.; Jones, W. D.; Kraus, C.; Kristiansen, B. E.; Lespinasse, J.; Low, K. J.; Lynch, S. A.; Maia, S.; Mao, R.; Kalinauskiene, R.; Melver, C.; Mcdonald, K.; Montgomery, T.; Morleo, M.; Motter, C.; Openshaw, A. S.; Palumbos, J. C.; Parikh, A. S.; Perilla-Young, Y.; Powell, C. M.; Person, R.; Desai, M.; Piard, J.; Pfundt, R.; Scala, M.; Serey-Gaut, M.; Shears, D.; Slavotinek, A.; Suri, M.; Turner, C.; Tvrdik, T.; Weiss, K.; Wentzensen, I. M.; Zollino, M.; Hsieh, T. -C.; Ramsey, K.; Zollino, M.; Scala, M.; Capra, V.; Peron, A.; De Vries, B. B. A.; Guillemot, F.; Dobyns, W. B.; Viskochil, D.; Dias, C.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
2024-01-01 Stegmann, J. D.; Kalanithy, J. C.; Dworschak, G. C.; Ishorst, N.; Mingardo, E.; Lopes, F. M.; Ho, Y. M.; Grote, P.; Lindenberg, T. T.; Yilmaz, O.; Channab, K.; Seltzsam, S.; Shril, S.; Hildebrandt, F.; Boschann, F.; Heinen, A.; Jolly, A.; Myers, K.; Mcbride, K.; Bekheirnia, M. R.; Bekheirnia, N.; Scala, M.; Morleo, M.; Nigro, V.; Torella, A.; Pinelli, M.; Capra, V.; Accogli, A.; Maitz, S.; Spano, A.; Olson, R. J.; Klee, E. W.; Lanpher, B. C.; Jang, S. S.; Chae, J. -H.; Steinbauer, P.; Rieder, D.; Janecke, A. R.; Vodopiutz, J.; Vogel, I.; Blechingberg, J.; Cohen, J. L.; Riley, K.; Klee, V.; Walsh, L. E.; Begemann, M.; Elbracht, M.; Eggermann, T.; Stoppe, A.; Stuurman, K.; Van Slegtenhorst, M.; Barakat, T. S.; Mulhern, M. S.; Sands, T. T.; Cytrynbaum, C.; Weksberg, R.; Isidori, F.; Pippucci, T.; Severi, G.; Montanari, F.; Kruer, M. C.; Bakhtiari, S.; Darvish, H.; Reutter, H.; Hagelueken, G.; Geyer, M.; Woolf, A. S.; Posey, J. E.; Lupski, J. R.; Odermatt, B.; Hilger, A. C.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
2024-01-01 Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E.; Wells, Michael F.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
2024-01-01 Accogli, A.; Park, Y. N.; Lenk, G. M.; Severino, M.; Scala, M.; Denecke, J.; Hempel, M.; Lessel, D.; Kortum, F.; Salpietro, V.; De Marco, P.; Guerrisi, S.; Torella, A.; Nigro, V.; Srour, M.; Turro, E.; Labarque, V.; Freson, K.; Piatelli, G.; Capra, V.; Kitzman, J. O.; Meisler, M. H.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
2021-01-01 Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; Mccartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34
2019-01-01 Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
2023-01-01 Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
Chiari malformation type I: what information from the genetics?
2019-01-01 Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
2021-01-01 Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? | 1-gen-2022 | Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia | |
| A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion | 1-gen-2019 | Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V. | |
| A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions | 1-gen-2018 | Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria | |
| A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children | 1-gen-2023 | Scorrano, G.; D'Onofrio, G.; Accogli, A.; Severino, M.; Buchert, R.; Kotzaeridou, U.; Iapadre, G.; Farello, G.; Iacomino, M.; Dono, F.; Di Francesco, L.; Fiorile, M. F.; La Bella, S.; Corsello, A.; Cali, E.; Di Rosa, G.; Gitto, E.; Verrotti, A.; Fortuna, S.; Soler, M. A.; Chiarelli, F.; Oehl-Jaschkowitz, B.; Haack, T. B.; Zara, F.; Striano, P.; Salpietro, V. | |
| A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome | 1-gen-2022 | Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele | |
| A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management | 1-gen-2021 | Pavanello, M.; Fiaschi, P.; Accogli, A.; Severino, M.; Tortora, D.; Piatelli, G.; Capra, V. | |
| Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy | 1-gen-2022 | Naim, Alessandro; Accogli, Andrea; Amadori, Elisabetta; D'Onofrio, Gianluca; Madia, Francesca; Tortora, Domenico; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo; Severino, Mariasavina | |
| Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders | 1-gen-2024 | Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo | |
| An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report | 1-gen-2021 | Trevisan, L.; Grazzini, M.; Cianflone, A.; Accogli, A.; Finocchi, C.; Capello, E.; Saitta, L.; Grandis, M.; Roccatagliata, L.; Mandich, P. | |
| Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? | 1-gen-2015 | Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria | |
| Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome | 1-gen-2021 | Masnada, S.; Pichiecchio, A.; Formica, M.; Arrigoni, F.; Borrelli, P.; Accorsi, P.; Bonanni, P.; Borgatti, R.; Bernardina, B. D.; Danieli, A.; Darra, F.; Deconinck, N.; De Giorgis, V.; Dulac, O.; Gataullina, S.; Giordano, L.; Guerrini, R.; La Briola, F.; Mastrangelo, M.; Montomoli, M.; Mortilla, M.; Osanni, E.; Parisi, P.; Perucca, E.; Pinelli, L.; Romaniello, R.; Severino, M.; Vigevano, F.; Vignoli, A.; Bahi-Buisson, N.; Cavallin, M.; Accogli, A.; Burgeois, M.; Capra, V.; Chaves-Vischer, V.; Chiapparini, L.; Colafati, G.; D'Arrigo, S.; Desguerre, I.; Doco-Fenzy, M.; D'Orsi, G.; Epitashvili, N.; Fazzi, E.; Ferretti, A.; Fiorini, E.; Fradin, M.; Fusco, C.; Granata, T.; Johannesen, K. M.; Lebon, S.; Loget, P.; Moller, R. S.; Montanaro, D.; Orcesi, S.; Quelin, C.; Rebessi, E.; Romeo, A.; Solazzi, R.; Spagnoli, C.; Uebler, C.; Zara, F.; Arzimanoglou, A.; Veggiotti, P. | |
| BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | 1-gen-2025 | Peron, A.; D'Arco, F.; Aldinger, K. A.; Smith-Hicks, C.; Zweier, C.; Gradek, G. A.; Bradbury, K.; Accogli, A.; Andersen, E. F.; Au, P. Y. B.; Battini, R.; Beleford, D.; Bird, L. M.; Bouman, A.; Bruel, A. -L.; Busk, O. L.; Campeau, P. M.; Capra, V.; Carlston, C.; Carmichael, J.; Chassevent, A.; Clayton-Smith, J.; Bamshad, M. J.; Earl, D. L.; Faivre, L.; Philippe, C.; Ferreira, P.; Graul-Neumann, L.; Green, M. J.; Haffner, D.; Haldipur, P.; Hanna, S.; Houge, G.; Jones, W. D.; Kraus, C.; Kristiansen, B. E.; Lespinasse, J.; Low, K. J.; Lynch, S. A.; Maia, S.; Mao, R.; Kalinauskiene, R.; Melver, C.; Mcdonald, K.; Montgomery, T.; Morleo, M.; Motter, C.; Openshaw, A. S.; Palumbos, J. C.; Parikh, A. S.; Perilla-Young, Y.; Powell, C. M.; Person, R.; Desai, M.; Piard, J.; Pfundt, R.; Scala, M.; Serey-Gaut, M.; Shears, D.; Slavotinek, A.; Suri, M.; Turner, C.; Tvrdik, T.; Weiss, K.; Wentzensen, I. M.; Zollino, M.; Hsieh, T. -C.; Ramsey, K.; Zollino, M.; Scala, M.; Capra, V.; Peron, A.; De Vries, B. B. A.; Guillemot, F.; Dobyns, W. B.; Viskochil, D.; Dias, C. | |
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | 1-gen-2024 | Stegmann, J. D.; Kalanithy, J. C.; Dworschak, G. C.; Ishorst, N.; Mingardo, E.; Lopes, F. M.; Ho, Y. M.; Grote, P.; Lindenberg, T. T.; Yilmaz, O.; Channab, K.; Seltzsam, S.; Shril, S.; Hildebrandt, F.; Boschann, F.; Heinen, A.; Jolly, A.; Myers, K.; Mcbride, K.; Bekheirnia, M. R.; Bekheirnia, N.; Scala, M.; Morleo, M.; Nigro, V.; Torella, A.; Pinelli, M.; Capra, V.; Accogli, A.; Maitz, S.; Spano, A.; Olson, R. J.; Klee, E. W.; Lanpher, B. C.; Jang, S. S.; Chae, J. -H.; Steinbauer, P.; Rieder, D.; Janecke, A. R.; Vodopiutz, J.; Vogel, I.; Blechingberg, J.; Cohen, J. L.; Riley, K.; Klee, V.; Walsh, L. E.; Begemann, M.; Elbracht, M.; Eggermann, T.; Stoppe, A.; Stuurman, K.; Van Slegtenhorst, M.; Barakat, T. S.; Mulhern, M. S.; Sands, T. T.; Cytrynbaum, C.; Weksberg, R.; Isidori, F.; Pippucci, T.; Severi, G.; Montanari, F.; Kruer, M. C.; Bakhtiari, S.; Darvish, H.; Reutter, H.; Hagelueken, G.; Geyer, M.; Woolf, A. S.; Posey, J. E.; Lupski, J. R.; Odermatt, B.; Hilger, A. C. | |
| Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities | 1-gen-2024 | Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E.; Wells, Michael F. | |
| Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder | 1-gen-2024 | Accogli, A.; Park, Y. N.; Lenk, G. M.; Severino, M.; Scala, M.; Denecke, J.; Hempel, M.; Lessel, D.; Kortum, F.; Salpietro, V.; De Marco, P.; Guerrisi, S.; Torella, A.; Nigro, V.; Srour, M.; Turro, E.; Labarque, V.; Freson, K.; Piatelli, G.; Capra, V.; Kitzman, J. O.; Meisler, M. H. | |
| Biallelic PI4KA variants cause neurological, intestinal and immunological disease | 1-gen-2021 | Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; Mccartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L | |
| Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 | 1-gen-2019 | Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S. | |
| BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients | 1-gen-2023 | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette | |
| Chiari malformation type I: what information from the genetics? | 1-gen-2019 | Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P. | |
| Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy | 1-gen-2021 | Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale |