Vincenzo Salpietro

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 36

Top Venues

Nature communications

European journal of human genetics : EJHG

Diabetes therapy : research, treatment and education of diabetes and related disorders

Neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Chiara Mameli, Giulia Marie Smylie, Marco Marigliano, Luca Zagaroli, Valentina Mancioppi, Claudio Maffeis, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review. Diabetes therapy : research, treatment and education of diabetes and related disorders (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2024)
Chiara Mameli, Giulia Marie Smylie, Marco Marigliano, Luca Zagaroli, Valentina Mancioppi, Claudio Maffeis, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review. Diabetes therapy : research, treatment and education of diabetes and related disorders (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Chiara Mameli, Giulia Marie Smylie, Marco Marigliano, Luca Zagaroli, Valentina Mancioppi, Claudio Maffeis, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio
Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review. Diabetes therapy : research, treatment and education of diabetes and related disorders (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Chiara Mameli, Giulia Marie Smylie, Marco Marigliano, Luca Zagaroli, Valentina Mancioppi, Claudio Maffeis, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio
Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review. Diabetes therapy : research, treatment and education of diabetes and related disorders (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Chiara Mameli, Giula Maria Smylie, Marco Marigliano, Luca Zagaroli, Valentina Mancioppi, Claudio Maffeis, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review. Diabetes therapy : research, treatment and education of diabetes and related disorders (2024)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natália Padilla, Raquel Fueyo, Elisa A Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E Sheppard, Paul R Mark, Margaret H Harr, Hakon H Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C E Hurst, Michelle L Thompson, Anna Chassevent, Constance L Smith-Hicks, Xavier de la Cruz, Alexander M Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, null null, Deborah L French, Elizabeth A Heller, Murielle Saade, Hongjun Song, Guo-Li Ming, Fowzan Sami Alkuraya, Pankaj B Agrawal, Danny Reinberg, Elizabeth J Bhoj, Marian A Martínez-Balbás, Naiara Akizu
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature communications 14 (1) (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D'Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders. Orphanet journal of rare diseases 17 (1) (2022)
Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum. International journal of molecular sciences 22 (9) (2021)
Thomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, Sarah Wiethoff, Vincenzo Salpietro, Henry Houlden
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders. European journal of human genetics : EJHG 29 (6) (2021)
Reza Maroofian, Mahdiyeh Behnam, Rauan Kaiyrzhanov, Vincenzo Salpietro, Mansour Salehi, Henry Houlden
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. Neurology. Genetics 5 (6) (2019)
Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A Botia, Mina Ryten, Jana Vandrovcova, Oscar D Bello, Conceicao Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. Human mutation 39 (2) (2017)

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Vincenzo Salpietro