Sfoglia per Autore
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
2021 Kushary, S. T.; Revah-Politi, A.; Barua, S.; Ganapathi, M.; Accogli, A.; Aggarwal, V.; Brunetti Pierri, N.; Cappuccio, G.; Capra, V.; Fagerberg, C. R.; Gazdagh, G.; Guzman, E.; Hadonou, M.; Harrison, V.; Havelund, K.; Iancu, D.; Kraus, A.; Lippa, N. C.; Mansukhani, M.; Mcbrian, D.; Mcentagart, M.; Pacio-Miguez, M.; Palomares-Bralo, M.; Pottinger, C.; Ruivenkamp, C. A. L.; Sacco, O.; Santen, G. W. E.; Santos-Simarro, F.; Scala, M.; Short, J.; Sorensen, K. P.; Woods, C. G.; Anyane Yeboa, K.
Clinical and functional consequences of C-terminal variants in MCT8: a case series
2021 van Geest, Ferdy S; Meima, Marcel E; Stuurman, Kyra E; Wolf, Nicole I; van der Knaap, Marjo S; Lorea, Cláudia F; Poswar, Fabiano O; Vairo, Filippo; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bakhtiani, Priyanka; de Munnik, Sonja A; Peeters, Robin P; Visser, W Edward; Groeneweg, Stefan
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study
2021 van Geest, Ferdy S; Groeneweg, Stefan; van den Akker, Erica L T; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A A; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D; Christian, Peter; Coutant, Régis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Lora, Felipe Monti; Moran, Carla; Müller, Katalin E; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B; Seckold, Rowen; Menevşe, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P; Visser, W Edward
Peculiar footprints in a child with agenesis of corpus callosum
2021 Cappuccio, G.; Genesio, R.; Pignataro, P.; Brunetti Pierri, N.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
2021 Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T; Gannon, Stephen R; Mccall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B; Turner, Tychele N; Shannon, Chevis N; Brockmeyer, Douglas; Limbrick, David D; Gurnett, Christina A; Haller, Gabe
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
2021 Ciaccio, C.; Duga, V.; Pantaleoni, C.; Esposito, S.; Moroni, I.; Pinelli, M.; Castello, R.; Nigro, V.; Chiapparini, L.; D'Arrigo, S.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
2021 Tan, N. B.; Pagnamenta, A. T.; Ferla, M. P.; Gadian, J.; Chung, B. H. Y.; Chan, M. C. Y.; Fung, J. L. F.; Cook, E.; Guter, S.; Boschann, F.; Heinen, A.; Schallner, J.; Mignot, C.; Keren, B.; Whalen, S.; Sarret, C.; Mittag, D.; Demmer, L.; Stapleton, R.; Saida, K.; Matsumoto, N.; Miyake, N.; Sheffer, R.; Mor-Shaked, H.; Barnett, C. P.; Byrne, A. B.; Scott, H. S.; Kraus, A.; Cappuccio, G.; Brunetti Pierri, N.; Iorio, R.; Di Dato, F.; Pais, L. S.; Yeung, A.; Tan, T. Y.; Taylor, J. C.; Christodoulou, J.; White, S.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
2021 Chopra, Maya; Mcentagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Dimonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; Mckeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
2021 Cappuccio, G.; Ceccatelli Berti, C.; Baruffini, E.; Sullivan, J.; Shashi, V.; Jewett, T.; Stamper, T.; Maitz, S.; Canonico, F.; Revah-Politi, A.; Kupchik, G. S.; Anyane-Yeboa, K.; Aggarwal, V.; Benneche, A.; Bratland, E.; Berland, S.; D'Arco, F.; Alves, C. A.; Vanderver, A.; Longo, D.; Bertini, E.; Torella, A.; Nigro, V.; D'Amico, A.; van der Knaap, M. S.; Goffrini, P.; Brunetti Pierri, N.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
2021 Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
2021 Schneider, A. L.; Myers, C. T.; Muir, A. M.; Calvert, S.; Basinger, A.; Perry, M. S.; Rodan, L.; Helbig, K. L.; Chambers, C.; Gorman, K. M.; King, M. D.; Donkervoort, S.; Soldatos, A.; Bonnemann, C. G.; Spataro, N.; Gabau, E.; Arellano, M.; Cappuccio, G.; Brunetti Pierri, N.; Rossignol, E.; Hamdan, F. F.; Michaud, J. L.; Balak, C.; Mefford, H. C.; Scheffer, I. E.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 Voisin, N.; Schnur, R. E.; Douzgou, S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S.; Verheyen, S.; Johnson, D.; Zarate, Y. A.; Hancarova, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkolbl, A.; Funari, T.; Giannuzzi, G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, O. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalova, D.; Rhodes, L.; Sanders, V. R.; Sedlacek, Z.; Seebacher, H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tonne, E.; Tveten, K.; Vitiello, G.; Vlckova, M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti Pierri, N.; Chung, W. K.; Reymond, A.
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder
2020 Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367)
2020 Cappuccio, G.; Pinelli, M.; Torella, A.; Alagia, M.; Auricchio, Renata.; Staiano, A.; Nigro, V.; Brunetti-Pierri, Nicola
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female
2020 Barillari, Maria Rosaria; Karali, Marianthi; Di Iorio, Valentina; Contaldo, Maria; Piccolo, Vincenzo; Esposito, Maria; Costa, Giuseppe; Argenziano, Giuseppe; Serpico, Rosario; Carotenuto, Marco; Cappuccio, Gerarda; Banfi, Sandro; Melillo, Paolo; Simonelli, Francesca
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 Groeneweg, S.; van Geest, F. S.; Abaci, A.; Alcantud, A.; Ambegaonkar, G. P.; Armour, C. M.; Bakhtiani, P.; Barca, D.; Bertini, E. S.; van Beynum, I. M.; Brunetti-Pierri, Nicola; Bugiani, M.; Cappa, M.; Cappuccio, G.; Castellotti, B.; Castiglioni, C.; Chatterjee, K.; de Coo, I. F. M.; Coutant, R.; Craiu, D.; Crock, P.; Degoede, C.; Demir, K.; Dica, A.; Dimitri, P.; Dolcetta-Capuzzo, A.; Dremmen, M. H. G.; Dubey, R.; Enderli, A.; Fairchild, J.; Gallichan, J.; George, B.; Gevers, E. F.; Hackenberg, A.; Halasz, Z.; Heinrich, B.; Huynh, T.; Klosowska, A.; van der Knaap, M. S.; van der Knoop, M. M.; Konrad, D.; Koolen, D. A.; Krude, H.; Lawson-Yuen, A.; Lebl, J.; Linder-Lucht, M.; Lorea, C. F.; Lourenco, C. M.; Lunsing, R. J.; Lyons, G.; Malikova, J.; Mancilla, E. E.; Mcgowan, A.; Mericq, V.; Lora, F. M.; Moran, C.; Muller, K. E.; Oliver-Petit, I.; Paone, L.; Paul, P. G.; Polak, M.; Porta, F.; Poswar, F. O.; Reinauer, C.; Rozenkova, K.; Menevse, T. S.; Simm, P.; Simon, A.; Singh, Y.; Spada, M.; van der Spek, J.; Stals, M. A. M.; Stoupa, A.; Subramanian, G. M.; Tonduti, D.; Turan, S.; den Uil, C. A.; Vanderniet, J.; van der Walt, A.; Wemeau, J. -L.; Wierzba, J.; de Wit, M. -C. Y.; Wolf, N. I.; Wurm, M.; Zibordi, F.; Zung, A.; Zwaveling-Soonawala, N.; Visser, W. E.
Long-term follow-up of an individual with ITPR1-related disorder
2020 Cappuccio, G.; Apuzzo, D.; Passalacqua, P.; Parrini, E.; D'Amico, A.; Montini, T.; Brunetti-Pierri, Nicola.
A systematic cross-sectional survey of multiple sulfatase deficiency
2020 Cappuccio, G.; Alagia, M.; Brunetti-Pierri, Nicola
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum
2020 Mendes, M. I.; Green, L. M. C.; Bertini, E.; Tonduti, D.; Aiello, C.; Smith, D.; Salsano, E.; Beerepoot, S.; Hertecant, J.; von Spiczak, S.; Livingston, J. H.; Emrick, L.; Fraser, J.; Russell, L.; Bernard, G.; Magri, S.; Di Bella, D.; Taroni, F.; Koenig, M. K.; Moroni, I.; Cappuccio, G.; Brunetti-Pierri, N.; Rhee, J.; Mendelsohn, B. A.; Helbig, I.; Helbig, K.; Muhle, H.; Ismayl, O.; Vanderver, A. L.; Salomons, G. S.; van der Knaap, M. S.; Wolf, N. I.
Two cases of 16q12.1q21 deletions and refinement of the critical region
2020 Apuzzo, D.; Cappuccio, G.; Vaisanen, T.; Alagia, M.; Pignataro, P.; Genesio, R.; Brunetti-Pierri, Nicola
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature | 1.1 Articolo in rivista | 2021 | Kushary, S. T.; Revah-Politi, A.; Barua, S.; Ganapathi, M.; Accogli, A.; Aggarwal, V.; Brunetti Pierri, N.; Cappuccio, G.; Capra, V.; Fagerberg, C. R.; Gazdagh, G.; Guzman, E.; Hadonou, M.; Harrison, V.; Havelund, K.; Iancu, D.; Kraus, A.; Lippa, N. C.; Mansukhani, M.; Mcbrian, D.; Mcentagart, M.; Pacio-Miguez, M.; Palomares-Bralo, M.; Pottinger, C.; Ruivenkamp, C. A. L.; Sacco, O.; Santen, G. W. E.; Santos-Simarro, F.; Scala, M.; Short, J.; Sorensen, K. P.; Woods, C. G.; Anyane Yeboa, K. | |
| Clinical and functional consequences of C-terminal variants in MCT8: a case series | 1.1 Articolo in rivista | 2021 | van Geest, Ferdy S; Meima, Marcel E; Stuurman, Kyra E; Wolf, Nicole I; van der Knaap, Marjo S; Lorea, Cláudia F; Poswar, Fabiano O; Vairo, Filippo; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bakhtiani, Priyanka; de Munnik, Sonja A; Peeters, Robin P; Visser, W Edward; Groeneweg, Stefan | |
| Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study | 1.1 Articolo in rivista | 2021 | van Geest, Ferdy S; Groeneweg, Stefan; van den Akker, Erica L T; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A A; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D; Christian, Peter; Coutant, Régis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Lora, Felipe Monti; Moran, Carla; Müller, Katalin E; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B; Seckold, Rowen; Menevşe, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P; Visser, W Edward | |
| Peculiar footprints in a child with agenesis of corpus callosum | 1.1 Articolo in rivista | 2021 | Cappuccio, G.; Genesio, R.; Pignataro, P.; Brunetti Pierri, N. | |
| Rare and de novo coding variants in chromodomain genes in Chiari I malformation | 1.1 Articolo in rivista | 2021 | Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T; Gannon, Stephen R; Mccall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B; Turner, Tychele N; Shannon, Chevis N; Brockmeyer, Douglas; Limbrick, David D; Gurnett, Christina A; Haller, Gabe | |
| Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant | 1.1 Articolo in rivista | 2021 | Ciaccio, C.; Duga, V.; Pantaleoni, C.; Esposito, S.; Moroni, I.; Pinelli, M.; Castello, R.; Nigro, V.; Chiapparini, L.; D'Arrigo, S.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C. | |
| Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability | 1.1 Articolo in rivista | 2021 | Tan, N. B.; Pagnamenta, A. T.; Ferla, M. P.; Gadian, J.; Chung, B. H. Y.; Chan, M. C. Y.; Fung, J. L. F.; Cook, E.; Guter, S.; Boschann, F.; Heinen, A.; Schallner, J.; Mignot, C.; Keren, B.; Whalen, S.; Sarret, C.; Mittag, D.; Demmer, L.; Stapleton, R.; Saida, K.; Matsumoto, N.; Miyake, N.; Sheffer, R.; Mor-Shaked, H.; Barnett, C. P.; Byrne, A. B.; Scott, H. S.; Kraus, A.; Cappuccio, G.; Brunetti Pierri, N.; Iorio, R.; Di Dato, F.; Pais, L. S.; Yeung, A.; Tan, T. Y.; Taylor, J. C.; Christodoulou, J.; White, S. | |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism | 1.1 Articolo in rivista | 2021 | Chopra, Maya; Mcentagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Dimonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; Mckeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T | |
| Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease | 1.1 Articolo in rivista | 2021 | Cappuccio, G.; Ceccatelli Berti, C.; Baruffini, E.; Sullivan, J.; Shashi, V.; Jewett, T.; Stamper, T.; Maitz, S.; Canonico, F.; Revah-Politi, A.; Kupchik, G. S.; Anyane-Yeboa, K.; Aggarwal, V.; Benneche, A.; Bratland, E.; Berland, S.; D'Arco, F.; Alves, C. A.; Vanderver, A.; Longo, D.; Bertini, E.; Torella, A.; Nigro, V.; D'Amico, A.; van der Knaap, M. S.; Goffrini, P.; Brunetti Pierri, N. | |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature | 1.1 Articolo in rivista | 2021 | Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna | |
| FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability | 1.1 Articolo in rivista | 2021 | Schneider, A. L.; Myers, C. T.; Muir, A. M.; Calvert, S.; Basinger, A.; Perry, M. S.; Rodan, L.; Helbig, K. L.; Chambers, C.; Gorman, K. M.; King, M. D.; Donkervoort, S.; Soldatos, A.; Bonnemann, C. G.; Spataro, N.; Gabau, E.; Arellano, M.; Cappuccio, G.; Brunetti Pierri, N.; Rossignol, E.; Hamdan, F. F.; Michaud, J. L.; Balak, C.; Mefford, H. C.; Scheffer, I. E. | |
| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy | 1.1 Articolo in rivista | 2021 | Voisin, N.; Schnur, R. E.; Douzgou, S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S.; Verheyen, S.; Johnson, D.; Zarate, Y. A.; Hancarova, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkolbl, A.; Funari, T.; Giannuzzi, G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, O. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalova, D.; Rhodes, L.; Sanders, V. R.; Sedlacek, Z.; Seebacher, H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tonne, E.; Tveten, K.; Vitiello, G.; Vlckova, M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti Pierri, N.; Chung, W. K.; Reymond, A. | |
| Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder | 1.1 Articolo in rivista | 2020 | Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti-Pierri, Nicola | |
| Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) | 1.7 Commento, erratum, replica e simili | 2020 | Cappuccio, G.; Pinelli, M.; Torella, A.; Alagia, M.; Auricchio, Renata.; Staiano, A.; Nigro, V.; Brunetti-Pierri, Nicola | |
| Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female | 1.1 Articolo in rivista | 2020 | Barillari, Maria Rosaria; Karali, Marianthi; Di Iorio, Valentina; Contaldo, Maria; Piccolo, Vincenzo; Esposito, Maria; Costa, Giuseppe; Argenziano, Giuseppe; Serpico, Rosario; Carotenuto, Marco; Cappuccio, Gerarda; Banfi, Sandro; Melillo, Paolo; Simonelli, Francesca | |
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study | 1.1 Articolo in rivista | 2020 | Groeneweg, S.; van Geest, F. S.; Abaci, A.; Alcantud, A.; Ambegaonkar, G. P.; Armour, C. M.; Bakhtiani, P.; Barca, D.; Bertini, E. S.; van Beynum, I. M.; Brunetti-Pierri, Nicola; Bugiani, M.; Cappa, M.; Cappuccio, G.; Castellotti, B.; Castiglioni, C.; Chatterjee, K.; de Coo, I. F. M.; Coutant, R.; Craiu, D.; Crock, P.; Degoede, C.; Demir, K.; Dica, A.; Dimitri, P.; Dolcetta-Capuzzo, A.; Dremmen, M. H. G.; Dubey, R.; Enderli, A.; Fairchild, J.; Gallichan, J.; George, B.; Gevers, E. F.; Hackenberg, A.; Halasz, Z.; Heinrich, B.; Huynh, T.; Klosowska, A.; van der Knaap, M. S.; van der Knoop, M. M.; Konrad, D.; Koolen, D. A.; Krude, H.; Lawson-Yuen, A.; Lebl, J.; Linder-Lucht, M.; Lorea, C. F.; Lourenco, C. M.; Lunsing, R. J.; Lyons, G.; Malikova, J.; Mancilla, E. E.; Mcgowan, A.; Mericq, V.; Lora, F. M.; Moran, C.; Muller, K. E.; Oliver-Petit, I.; Paone, L.; Paul, P. G.; Polak, M.; Porta, F.; Poswar, F. O.; Reinauer, C.; Rozenkova, K.; Menevse, T. S.; Simm, P.; Simon, A.; Singh, Y.; Spada, M.; van der Spek, J.; Stals, M. A. M.; Stoupa, A.; Subramanian, G. M.; Tonduti, D.; Turan, S.; den Uil, C. A.; Vanderniet, J.; van der Walt, A.; Wemeau, J. -L.; Wierzba, J.; de Wit, M. -C. Y.; Wolf, N. I.; Wurm, M.; Zibordi, F.; Zung, A.; Zwaveling-Soonawala, N.; Visser, W. E. | |
| Long-term follow-up of an individual with ITPR1-related disorder | 1.1 Articolo in rivista | 2020 | Cappuccio, G.; Apuzzo, D.; Passalacqua, P.; Parrini, E.; D'Amico, A.; Montini, T.; Brunetti-Pierri, Nicola. | |
| A systematic cross-sectional survey of multiple sulfatase deficiency | 1.1 Articolo in rivista | 2020 | Cappuccio, G.; Alagia, M.; Brunetti-Pierri, Nicola | |
| RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum | 1.1 Articolo in rivista | 2020 | Mendes, M. I.; Green, L. M. C.; Bertini, E.; Tonduti, D.; Aiello, C.; Smith, D.; Salsano, E.; Beerepoot, S.; Hertecant, J.; von Spiczak, S.; Livingston, J. H.; Emrick, L.; Fraser, J.; Russell, L.; Bernard, G.; Magri, S.; Di Bella, D.; Taroni, F.; Koenig, M. K.; Moroni, I.; Cappuccio, G.; Brunetti-Pierri, N.; Rhee, J.; Mendelsohn, B. A.; Helbig, I.; Helbig, K.; Muhle, H.; Ismayl, O.; Vanderver, A. L.; Salomons, G. S.; van der Knaap, M. S.; Wolf, N. I. | |
| Two cases of 16q12.1q21 deletions and refinement of the critical region | 1.1 Articolo in rivista | 2020 | Apuzzo, D.; Cappuccio, G.; Vaisanen, T.; Alagia, M.; Pignataro, P.; Genesio, R.; Brunetti-Pierri, Nicola |
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