M. Chiara Manzini - Publications, H-index & Citations

M. Chiara Manzini

rutgers university system

35H指数

130论文数

4.2K被引数

收录论文 39

发表时间

Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy 母体补偿对严重先天性肌营养不良斑马鱼模型发育表型的影响

PLoS Genetics

IF3.7

2026-01-01

PREAI

Flannery, Kyle P.; Mowla, Shorbon; Battula, Namarata; Clark, L. Rose; Oliveira, Callista D.; Simhon, Lillian M.; Liu, Deze; Venkatesan, Cynthia; Karas, Brittany F.; Terez, Kristin R.; Burbano, Daniel; Manzini, M. Chiara

Editorial overview: Mechanisms underlying neurodevelopmental disorders 编辑概述：神经发育障碍的机制

Current Opinion in Neurobiology

IF5.2

2025-06-30

PREAI

M. Chiara Manzini; Toru Takumi

A Multipoint Validation of Quantification in Capillary Electrophoresis Mass Spectrometry Proteomics: Isobaric Multiplexing with Tandem Mass Tags 毛细管电泳质谱蛋白质组学中的定量多点验证：等重多路复用与串联质量标签

ANALYTICAL CHEMISTRY

IF6.7

2025-05-13

PREAI

Rodriguez, Laura G.; Lombard-Banek, Camille; Quach, Vi M.; Choi, Sam B.; Manzini, M. Chiara; Nemes, Peter

A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A

HUMAN MOLECULAR GENETICS

IF3.2

2024-04-23

PREAI

Bhattacharya, Aniket; Parlanti, Paola; Cavallo, Luca; Farrow, Edward; Spivey, Tyler; Renieri, Alessandra; Mari, Francesca; Manzini, M. Chiara

Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes

HUMAN MOLECULAR GENETICS

IF3.2

2024-01-25

OAAI

Karas, Brittany F.; Terez, Kristin R.; Mowla, Shorbon; Battula, Namarata; Flannery, Kyle P.; Gural, Brian M.; Aboussleman, Grace; Mubin, Numa; Manzini, M. Chiara

Standardization of zebrafish drug testing parameters for muscle diseases

DISEASE MODELS & MECHANISMS

IF3.3

2024-01-18

OAAI

Karuppasamy, Muthukumar; English, Katherine G.; Henry, Clarissa A.; Manzini, M. Chiara; Parant, John M.; Wright, Melissa A.; Ruparelia, Avnika A.; Currie, Peter D.; Gupta, Vandana A.; Dowling, James J.; Maves, Lisa; Alexander, Matthew S.

Reverse shoulder arthroplasty in obstetric brachial plexus injury: our experience with shoulder motion analysis

JOURNAL OF ORTHOPAEDICS AND TRAUMATOLOGY

IF3.7

2023-11-10

OAAI

Porcellini, Giuseppe; Montemagno, Marco; Manzini, Chiara; Fiumana, Gabriele; Giorgini, Andrea; Micheloni, Gianmario; Tarallo, Luigi

Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System Cc2d1b有助于中枢神经系统发育髓鞘形成的调节

FRONTIERS IN MOLECULAR NEUROSCIENCE

IF3.8

2022-05-03

OAAI

Acheta, Jenica; Hong, Jiayue; Jeanette, Haley; Brar, Simrandeep; Yalamanchili, Anish; Feltri, M. Laura; Manzini, M. Chiara; Belin, Sophie; Poitelon, Yannick

Capillary Electrophoresis Mass Spectrometry for Scalable Single-Cell Proteomics

FRONTIERS IN CHEMISTRY

IF4.2

2022-04-08

OAAI

Shen, Bowen; Pade, Leena R.; Choi, Sam B.; Munoz-LLancao, Pablo; Manzini, M. Chiara; Nemes, Peter

Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation

NEURON

IF15

2021-12-01

PREAI

Bhattacharya, Aniket; Manzini, M. Chiara

Data-Dependent Acquisition Ladder for Capillary Electrophoresis Mass Spectrometry-Based Ultrasensitive (Neuro)Proteomics

ANALYTICAL CHEMISTRY

IF6.7

2021-11-23

PREAI

Choi, Sam B.; Munoz-LLancao, Pablo; Manzini, M. Chiara; Nemes, Peter

Pushing open the door to reality: On facilitating the transitions from virtual to real environments

APPLIED ERGONOMICS

IF3.4

2021-11-01

OAAI

Soret, Rebai; Montes-Solano, Ana-Maria; Manzini, Chiara; Peysakhovich, Vsevolod; Fabre, Eve Floriane

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

GENETICS IN MEDICINE

IF6.2

2020-10-01

OAAI

del Cano-Ochoa, Francisco; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M. Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramon-Maiques, Santiago

BiallelicMFSD2Avariants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-06-22

OAAI

Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S.; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Manzini, M. Chiara; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza; Silver, David L.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-10-01

OAAI

Lee, Sangmoon; Chen, Dillon Y.; Zaki, Maha S.; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M.; Dobyns, William B.; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N.; Mancini, Grazia M. S.; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M. Chiara; Toosi, Mehran Beiraghi; Gleeson, Joseph G.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

GENETICS IN MEDICINE

IF6.2

2019-09-01

OAAI

Sa, Maria J. Nabais; Jensik, Philip J.; McGee, Stacey R.; Parker, Michael J.; Lahiri, Nayana; McNeil, Evan P.; Kroes, Hester Y.; Hagerman, Randi J.; Harrison, Rachel E.; Montgomery, Tara; Splitt, Miranda; Palmer, Elizabeth E.; Sachdev, Rani K.; Mefford, Heather C.; Scott, Abbey A.; Martinez-Agosto, Julian A.; Lorenz, Ruediger; Orenstein, Naama; Berg, Jonathan N.; Amiel, Jeanne; Heron, Delphine; Keren, Boris; Cobben, Jan-Maarten; Menke, Leonie A.; Marco, Elysa J.; Graham, John M., Jr.; Pierson, Tyler Mark; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Manzini, M. Chiara; Cauley, Edmund S.; Colombo, Roberto; Odent, Sylvie; Dubourg, Christele; Phornphutkul, Chanika; de Brouwer, Arjan P. M.; de Vries, Bert B. A.; Vulto-vanSilfhout, Anneke T.

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

BIOLOGICAL PSYCHIATRY

IF9

2019-05-01

OAAI

Zamarbide, Marta; Mossa, Adele; Munoz-Llancao, Pablo; Wilkinson, Molly K.; Pond, Heather L.; Oaks, Adam W.; Manzini, M. Chiara

Catalytic Synthesis of 1,2,4,5-Tetrasubstituted 1H-Imidazole Derivatives: State of the Art

ADVANCED SYNTHESIS & CATALYSIS

IF4

2019-03-29

OAAI

Rossi, Renzo; Angelici, Gaetano; Casotti, Gianluca; Manzini, Chiara; Lessi, Marco