Nicola Brunetti-Pierri

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 87

Top Venues

American journal of medical genetics. Part A

EMBO molecular medicine

Nature communications

Nature metabolism

Università degli Studi di Napoli Federico II

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

Affiliation History

Università degli Studi di Napoli Federico II

Italy

Associate Professor :: Translational Medicine

Telethon Institute of Genetics and Medicine

Italy

Assistant Investigator

Publications

Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism (2024)
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
Liver-directed gene therapy for inherited metabolic diseases. Journal of inherited metabolic disease 47 (1) (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism 6 (7) (2024)
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
Liver-directed gene therapy for inherited metabolic diseases. Journal of inherited metabolic disease (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
Author Correction: ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez, Sergey Malitsky, Maxim Itkin
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism (2024)
Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli, Mariateresa Zanobio, Annalaura Torella, Fowzan Sami Alkuraya, Shelagh Joss, Cecilia Daolio, Alessandro Mauro Spinelli, Stefania Zampieri, null null, Vincenzo Nigro, Nicola Brunetti-Pierri
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. American journal of medical genetics. Part A (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism 6 (7) (2024)
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism 6 (7) (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism 6 (7) (2024)
Alfonso M D'Alessio, Iolanda Boffa, Lucia De Stefano, Leandro R Soria, Nicola Brunetti-Pierri
Liver gene transfer for metabolite detoxification in inherited metabolic diseases. FEBS letters (2024)
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
Liver-directed gene therapy for inherited metabolic diseases. Journal of inherited metabolic disease 47 (1) (2024)
Lisha Qiu Jin Lim, Lital N Adler, Emma Hajaj, Leandro R Soria, Rotem Ben-Tov Perry, Naama Darzi, Ruchama Brody, Noa Furth, Michal Lichtenstein, Elizabeta Bab-Dinitz, Ziv Porat, Tevie Melman, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Yael Aylon, Shifra Ben-Dor, Irit Orr, Amir Pri-Or, Rony Seger, Yoav Shaul, Eytan Ruppin, Moshe Oren, Minervo Perez, Jordan Meier, Nicola Brunetti-Pierri, Efrat Shema, Igor Ulitsky, Ayelet Erez
Author Correction: ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response. Nature metabolism (2024)
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
Liver-directed gene therapy for inherited metabolic diseases. Journal of inherited metabolic disease 47 (1) (2024)
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
Liver-directed gene therapy for inherited metabolic diseases. Journal of inherited metabolic disease 47 (1) (2024)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine 16 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Iolanda Boffa, Elena Polishchuk, Lucia De Stefano, Fabio Dell'Aquila, Edoardo Nusco, Elena Marrocco, Matteo Audano, Silvia Pedretti, Marianna Caterino, Ilaria Bellezza, Margherita Ruoppolo, Nico Mitro, Barbara Cellini, Alberto Auricchio, Nicola Brunetti-Pierri
Liver-directed gene therapy for ornithine aminotransferase deficiency. EMBO molecular medicine (2023)
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria Lisa Dentici, Tartaglia Marco, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F Lauridsen, Oliver Murch, Rachel Irving, Sally A Lynch, Sarju G Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M Johannesen, Ian T Westphall, Susan S Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S Møller, Guido Rubboli, Allan Bayat
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clinical genetics (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine (2023)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine 16 (1) (2023)
Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari, Margherita Scarpato, Valeria Gaudieri, Alberto Cuocolo, Anna Russo, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi, Nicola Brunetti-Pierri
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine 15 (3) (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine 15 (3) (2023)
Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari, Margherita Scarpato, Valeria Gaudieri, Alberto Cuocolo, Anna Russo, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi, Nicola Brunetti-Pierri
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome. American journal of medical genetics. Part A (2023)
Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari, Margherita Scarpato, Valeria Gaudieri, Alberto Cuocolo, Anna Russo, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi, Nicola Brunetti-Pierri
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari, Margherita Scarpato, Valeria Gaudieri, Alberto Cuocolo, Anna Russo, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi, Nicola Brunetti-Pierri
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregula, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine 15 (3) (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregula, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine (2023)
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias G J Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa L Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena Centeno, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Balabio, Thomas Dierks, Andre Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO molecular medicine 15 (3) (2023)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine 16 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Alessandro Rossi, Nicola Brunetti-Pierri
Gene therapies for Mucopolysaccharidoses. Journal of inherited metabolic disease (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine (2023)
Iolanda Boffa, Nicola Brunetti-Pierri
Vision on gyrate atrophy: why treat the liver? EMBO molecular medicine 16 (1) (2023)
Nicolina Cristina Sorrentino, Maximiliano Presa, Sergio Attanasio, Vincenzo Cacace, Martina Sofia, Aamir Zuberi, Jennifer Ryan, Somdatta Ray, Igor Petkovic, Karthikeyan Radhakrishnan, Lars Schlotawa, Andrea Ballabio, Cathleen Lutz, Nicola Brunetti-Pierri
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of Multiple Sulfatase Deficiency. Journal of inherited metabolic disease (2022)
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti-Pierri
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. American journal of medical genetics. Part A 188 (10) (2022)
Gerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, Christopher Learn, John C Dykes, Catherine L Mercer, Bert Callewaert, Ilse Meerschaut, Alessandro Mauro Spinelli, Irene Bruno, Matthew J Gillespie, Aaron T Dorfman, Adda Grimberg, Mark E Lindsay, Angela E Lin
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. American journal of medical genetics. Part A 188 (5) (2022)
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J Mcmillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G Monaghan, Michelle M Morrow, Evan E Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Science advances 8 (33) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus John Clarke, Barbara R DuPont, Mariet W Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S Fletcher, Florian Cherick, Aidin Foroutan, Michael J Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A Hilton, Zandra A Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J Louie, Silvia Maitz, Donatella Milani, Angela T Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R Pallares, Maria Piccione, Astrid S Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen P Robertson, Kathleen Rooney, Justine Rousseau, Gijs W E Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella M Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J van der Sluijs, Samantha A Vergano, Niels Vos, Kellie K Walden, Dimitar Azmanov, Tugce B Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A Lee, Marcel M A M Mannens, Tony Roscioli, Victoria Siu, David J Amor, Gareth Baynam, Eric G Bend, Kym M Boycott, Nicola Brunetti-Pierri, Philippe M Campeau, Dominique Campion, John Chrisodoulou, David Dyment, Natacha Esber, Jill A Fahrner, Mark Daniel Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D Kernohan, Alisdair McNeill, Leonie A Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A Skinner, Roger E Stevenson, Marie Vincent, Antonio Vitobello, Tartaglia Marco, Marielle Alders, Matthew L Tedder, Bekim Sadikovic
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human mutation 43 (11) (2022)
Sem J Aronson, Norman Junge, Mediha Trabelsi, Wided Kelmemi, Aurelie Hubert, Karlla W Brigatti, Michael D Fox, Robert J de Knegt, Johanna C Escher, Virginia M Ginocchio, Raffaele Iorio, Yan Zhu, Figen Özçay, Fakher Rahim, Mortada H F El-Shabrawi, Eyal Shteyer, Angelo Di Giorgio, Lorenzo D'Antiga, Federico Mingozzi, Nicola Brunetti-Pierri, Kevin A Strauss, Philippe Labrune, Ridha Mrad, Ulrich Baumann, Ulrich H W Beuers, Piter J Bosma, null null
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry. Liver international : official journal of the International Association for the Study of the Liver 42 (7) (2022)
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Smigiel Robert, Alka Malhotra, Donald Basel, Ingrid M B H van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J Taft, Stephan Züchner
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology 98 (11) (2022)
Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, Emilia K Bijlsma, Tamara T Koopmann, Mariette J V Hoffer, Kimberly McDonald, Laura G Hendon, Sofia Douzgou, Charulata Deshpande, Stefano D'Arrigo, Annalaura Torella, Vincenzo Nigro, Brunella Franco, Nicola Brunetti-Pierri
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange-Line Bruel, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American journal of medical genetics. Part A 188 (5) (2022)
Cristina Peduto, Giulio Piluso, Vincenzo Nigro, Nicola Brunetti-Pierri
Are SHROOM4 loss-of-function variants pathogenic? American journal of medical genetics. Part A 188 (11) (2022)
Leandro R Soria, Georgios Makris, Alfonso M D'Alessio, Angela De Angelis, Iolanda Boffa, Veronica Maria Pravatà, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T Ferenbach, Debora Paris, Paola Cuomo, Rosanna Capparelli, Matthew Nitzahn, Gerald S Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes Ruiz Desviat, Johannes Häberle, Daan M F van Aalten, Nicola Brunetti-Pierri
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. Nature communications 13 (1) (2022)
Pasquale Piccolo, Nicola Brunetti-Pierri
Liver CHOP-and-change stress response. Hepatology communications 6 (12) (2022)
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Alison Schreiber, Adnan Alsadah, Derek E Neilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma McCann, George J Burghel, Beatriz Menendez, George E Hoganson, Lorenzo D Botto, Francis M Filloux, Ángel Aledo-Serrano, Antonio Gil-Nagel, Katrina Tatton-Brown, Nienke E Verbeek, Michele van Hirtum-Das, Jeroen Breckpot, Trine Bjørg Hammer, Rikke S Møller, Andrea Whitney, Andrew G L Douglas, Mira Kharbanda, Nicola Brunetti-Pierri, Manuela Morleo, Vincenzo Nigro, Halie J May, James X Tao, Emanuela Argili, Elliot H Sherr, William B Dobyns, Genomics England Research Consortium, Richard A Baines, Jim Warwicker, J Alex Parker, Siddharth Banka, Katta Mohan Girisha, Philippe M Campeau
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy. Brain : a journal of neurology (2022)
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Atallah Isis, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Natural history of KBG syndrome in a large European cohort. Human molecular genetics (2022)
Roberta Romano, Francesca Cillo, Cristina Moracas, Laura Pignata, Chiara Nannola, Elisabetta Toriello, Antonio De Rosa, Emilia Cirillo, Emma Coppola, Giuliana Giardino, Nicola Brunetti-Pierri, Andrea Riccio, Claudio Pignata
Epigenetic Alterations in Inborn Errors of Immunity. Journal of clinical medicine 11 (5) (2022)
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, Silvia Maitz, Francesco Canonico, Anya Revah-Politi, Gabriel S Kupchik, Kwame Anyane-Yeboa, Vimla Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D'Arco, Cesar A Alves, Adeline Vanderver, Daniela Longo, Enrico Silvio Bertini, Annalaura Torella, Vincenzo Nigro, null null, Alessandra D'Amico, Marjo S van der Knaap, Paola Goffrini, Nicola Brunetti-Pierri
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Human mutation 42 (6) (2021)
Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Francesca Simonelli, Francesca Simonelli
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants. Diagnostics (Basel, Switzerland) 11 (7) (2021)
Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla Aggarwal, Nicola Brunetti-Pierri, Gerarda Cappuccio, Valeria Capra, Christina R Fagerberg, Gabriella Gazdagh, Edwin Guzman, Medard Hadonou, Victoria Harrison, Kathrine Havelund, Daniela Iancu, Alison Kraus, Natalie C Lippa, Mahesh Mansukhani, Danielle McBrian, Meriel McEntagart, Marta Pacio-Míguez, Maria Palomares-Bralo, Carrie Pottinger, Claudia A L Ruivenkamp, Oliviero Sacco, Gijs W E Santen, Fernando Santos-Simarro, Marcello Scala, John Short, Kristina P Sørensen, Christopher G Woods, null null, null null, Kwame Anyane-Yeboa
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American journal of medical genetics. Part A 185 (12) (2021)
Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A A van den Berg, Enrico Silvio Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E Müller, Laura Paone, Praveen G Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B de Rijke, Rowen Seckold, Tuba Seven Menevşe, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P Peeters, W Edward Visser
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. The Journal of clinical endocrinology and metabolism (2021)
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, Nicola Brunetti-Pierri, Mohnish Suri, Katherine S Josephs, Meriel McEntagart, Brendan Lanpher, Katherine C Nickels, Andrea Haworth, Laura Reed, Gerarda Cappuccio, Isabella Mammi, Jessica M Tarnowski, Antonio Novelli, null null, Daniela Melis, Bert Callewaert, Bruno Dallapiccola, Eric Klee, Tartaglia Marco
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clinical genetics 98 (2) (2020)
Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés Fernando Muro, Julien Baruteau, Nicola Brunetti-Pierri
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders. EMBO molecular medicine 13 (2) (2020)
Gerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, Annalaura Torella, Michele Pinelli, Brunella Franco, Bruno Corrado, Ennio Del Giudice, Alessandra D'Amico, Vincenzo Nigro, null null, Nicola Brunetti-Pierri
Expansion of the phenotype of lateral meningocele syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Gerarda Cappuccio, Martina Caiazza, Alessandro Roca, Daniela Melis, Antonella Iuliano, Gabor Matyas, Marta Rubino, Giuseppe Limongelli, Nicola Brunetti-Pierri
A pilot clinical trial with losartan in Myhre syndrome. American journal of medical genetics. Part A 185 (3) (2020)
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K George-Abraham, Catherine A Buchanan, Denise Williams, Usha Kini, Kate Wilson, null null, Sérgio B Sousa, Raoul C M Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti-Pierri
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)
Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, null null, Nicola Brunetti-Pierri
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder. JIMD reports 52 (1) (2020)
Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Jane Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Anna Laura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schönewolf-Greulich, Zeynep Tümer, Wendy K Chung, Wendy Anne Gold, John Chrisodoulou
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Human mutation 41 (10) (2020)
Michele Pinelli, Gaetano Terrone, Flavia Troglio, Gabriella Maria Squeo, Gerarda Cappuccio, Floriana Imperati, Piero Pignataro, Rita Genesio, Lucio Nitch, Ennio Del Giudice, Giuseppe Merla, Giuseppe Testa, Nicola Brunetti-Pierri
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clinical genetics 97 (6) (2020)
Pasquale Piccolo, Alessandro Rossi, Nicola Brunetti-Pierri
Liver-directed gene-based therapies for inborn errors of metabolism. Expert opinion on biological therapy 21 (2) (2020)
Gerarda Cappuccio, Diletta Apuzzo, Paola Passalacqua, Elena Parrini, Alessandra D'Amico, Tommaso Montini, Nicola Brunetti-Pierri
Long-term follow-up of an individual with ITPR1-related disorder. American journal of medical genetics. Part A 182 (7) (2020)
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy A Ashaat, Dalia Farouk Hussen, Ho-Ming Luk, Ivan F M Lo, Brian Hon-Yin Chung, Jasmine L F Fung, Danilo Moretti-Ferreira, Letícia Cassimiro Batista, Stephanie Lotz-Esquivel, Manuel Saborio-Rocafort, Ramses Badilla-Porras, Monica Penon-Portmann, Kelly L Jones, Omar A Abdul-Rahman, Annette Uwineza, Eloise J Prijoles, Ifeanyi Kanayo Ifeorah, Arianne Llamos Paneque, Nirmala D Sirisena, Leah Ke'ala'aumoe Dowsett, Sansan Lee, Gerarda Cappuccio, Carolyn Sian Kitchin, Alicia Diaz-Kuan, Meow-Keong Thong, María Gabriela Obregon, Leon Mutesa, Vajira H W Dissanayake, Mona O El Ruby, Nicola Brunetti-Pierri, Ekanem Nsikak Ekure, Roger E Stevenson, Maximilian Muenke, Paul S Kruszka
Rubinstein-Taybi syndrome in diverse populations. American journal of medical genetics. Part A 182 (12) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Leandro R Soria, Nicola Brunetti-Pierri
Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia. Journal of inherited metabolic disease 42 (6) (2019)
Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A Bacino, Nicola Brunetti-Pierri
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Molecular genetics & genomic medicine 7 (9) (2019)
Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia, Margherita Mutarelli, Roberta Borzone, Marianthi Karali, Rita Genesio, Angela Mormile, Lucio Nitsch, Floriana Imperati, Annalisa Esposito, Francesca Simonelli, Ennio Del Giudice, Nicola Brunetti-Pierri
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. European journal of human genetics : EJHG 27 (9) (2019)
Gerarda Cappuccio, Raffaella Brunetti-Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, null null, Nicola Brunetti-Pierri
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Molecular genetics & genomic medicine 7 (6) (2019)
Nunzia Pastore, Anna Vainshtein, Niculin J Herz, Tuong Huynh, Lorenzo Brunetti, Tiemo J Klisch, Margherita Mutarelli, Patrizia Annunziata, Kenichiro Kinouchi, Nicola Brunetti-Pierri, Paolo Sassone-Corsi, Andrea Balabio
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock. The EMBO journal 38 (12) (2019)
Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D'Amico, Nicola Brunetti-Pierri
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Molecular genetics & genomic medicine 7 (6) (2019)
Leandro R Soria, Matthew Nitzahn, Angela De Angelis, Suhail Khoja, Sergio Attanasio, Patrizia Annunziata, Donna J Palmer, Philip Ng, Gerald S Lipshutz, Nicola Brunetti-Pierri
Hepatic glutamine synthetase augmentation enhances ammonia detoxification. Journal of inherited metabolic disease 42 (6) (2019)
Leandro R Soria, Nicola Brunetti-Pierri
Targeting autophagy for therapy of hyperammonemia. Autophagy 14 (7) (2018)

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Nicola Brunetti-Pierri