M Chiara Manzini (Davut Pehlivan, Ashraf Yahia)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 32

Top Venues

Human molecular genetics

Disease models & mechanisms

Neurogenetics

medRxiv : the preprint server for health sciences

Rutgers The State University of New Jersey

Columbia University (PHD)

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

Affiliation History

Rutgers The State University of New Jersey Jun 01 2019

United States

Associate Professor :: Neuroscience and Cell Biology

George Washington University Apr 01 2013 - May 31 2019

United States

Assistant Professor :: Pharmacology and Physiology

Children's Hospital Boston Sep 01 2010 - Mar 31 2013

United States

Instructor :: Genetics and Genomics

Beth Israel Deaconess Medical Center Jun 01 2006 - Aug 31 2010

United States

Postdoctoral fellow :: Neurology

Education History

Columbia University Aug 30 1998 - Feb 01 2006

United States

PHD :: Neurobiology and Behavior

Publications

Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, null Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, M Chiara Manzini, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long Nam Nguyen
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences (2024)
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 25 (2) (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics (2024)
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mahmoud Koko, Rayan Abubaker, Fatima Abozar, Liena E O Elsayed, Vikram Bhise, Robert S Molday, Mustafa A Salih, M Chiara Manzini
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes. medRxiv : the preprint server for health sciences (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics (2024)
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mahmoud Koko, Rayan Abubaker, Fatima Abozar, Liena E O Elsayed, Vikram Bhise, Robert S Molday, Mustafa A Salih, Ashraf Yahia, M Chiara Manzini
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes. medRxiv : the preprint server for health sciences (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics 33 (14) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics 33 (14) (2024)
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 25 (2) (2024)
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, M Chiara Manzini, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long Nam Nguyen
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics 33 (8) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics (2024)
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 25 (2) (2024)
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzini
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mahmoud Koko, Rayan Abubaker, Fatima Abozar, Liena E O Elsayed, Vikram Bhise, Robert S Molday, Mustafa A Salih, M Chiara Manzini
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes. medRxiv : the preprint server for health sciences (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics 33 (8) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics 33 (8) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Edmund S Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P Hoffman, M Chiara Manzini
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. Molecular genetics & genomic medicine 8 (11) (2020)
Adele Mossa, M Chiara Manzini
Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders. Journal of neuroscience research 99 (1) (2019)
Edmund S Cauley, Ahlam Hamed, Inaam N Mohamed, Maha Elseed, Samantha Martinez, Ashraf Yahia, Fatima Abozar, Rayan Abubakr, Mahmoud Koko, Liena Elsayed, Xianhua Piao, Mustafa A Salih, M Chiara Manzini
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. Neurogenetics 20 (2) (2019)
Faranak Vahid-Ansari, Mireille Daigle, M Chiara Manzini, Kenji F Tanaka, René Hen, Sean D Geddes, Jean-Claude Béïque, Jonathan James, Zul Merali, Paul R Albert
Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior. The Journal of neuroscience : the official journal of the Society for Neuroscience 37 (49) (2017)
Maria H Chahrour, Brian J O'Roak, Emanuela Santini, Rodney C Samaco, Robin J Kleiman, M Chiara Manzini
Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. The Journal of neuroscience : the official journal of the Society for Neuroscience 36 (45) (2017)

M Chiara Manzini.css-eqlu8i{font-size:small;padding-left:4px;} (Davut Pehlivan, Ashraf Yahia)

Publication Activity (10 Years)

Top Topics

Top Venues

M Chiara Manzini (Davut Pehlivan, Ashraf Yahia)