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Moccia, Amanda
27  results:
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1

P328: Transcription factor HAND2 in syndromic congenital he..:

Moccia, Amanda ; Stone, Brandon ; Hernandez, Liana...
Genetics in Medicine Open.  2 (2024)  - p. 101222 , 2024
Link: https://doi.org/10.1016/..
 
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2

Expanding the Clinical Utility of Targeted RNA Sequencing P..:

Schieffer, Kathleen M. ; Moccia, Amanda ; Bucknor, Brianna A....
Cancers.  15 (2023)  17 - p. 4394 , 2023
Link: https://doi.org/10.3390/..
 
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3

De novo variants in GATAD2A in individuals with a neurodeve..:

Werren, Elizabeth A. ; Guxholli, Alba ; Jones, Natasha...
Human Genetics and Genomics Advances.  4 (2023)  3 - p. 100198 , 2023
Link: https://doi.org/10.1016/..
 
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4

Molecular and functional heterogeneity in dorsal and ventra..:

Boda, Enrica ; Lorenzati, Martina ; Parolisi, Roberta...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

Dysregulation of cotranscriptional alternative splicing und..:

Bélanger, Catherine ; Bérubé-Simard, Félix-Antoine ; Leduc, Elizabeth...
Proceedings of the National Academy of Sciences of the United States of America.  115 (2018)  4 - p. E620-E629 , 2018
Link: https://www.jstor.org/st..
 
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6

Genetic analysis of CHARGE syndrome identifies overlapping ..:

Moccia, Amanda ; Srivastava, Anshika ; Skidmore, Jennifer M....
Genetics in Medicine.  20 (2018)  9 - p. 1022-1029 , 2018
Link: https://doi.org/10.1038/..
 
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7

Dysregulation of cotranscriptional alternative splicing und..:

Bélanger, Catherine ; Bérubé-Simard, Félix-Antoine ; Leduc, Elizabeth...
Proceedings of the National Academy of Sciences.  115 (2018)  4 - p. , 2018
Link: https://doi.org/10.1073/..
 
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8

Nervous system development and disease: A focus on trithora..:

Moccia, Amanda ; Martin, Donna M.
Molecular and Cellular Neuroscience.  87 (2018)  - p. 46-54 , 2018
Link: https://doi.org/10.1016/..
 
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9

De novo variants in GATAD2A in individuals with a neurodeve..:

Werren, Elizabeth A ; Guxholli, Alba ; Jones, Natasha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172836/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Molecular and functional heterogeneity in dorsal and ventra..:

Boda, Enrica ; Lorenzati, Martina ; Parolisi, Roberta...
info:eu-repo/semantics/altIdentifier/pmid/35484145.  , 2022
Link: http://hdl.handle.net/23..
 
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11

Dysregulation of cotranscriptional alternative splicing und..:

Bélanger, Catherine ; Bérubé-Simard, Félix-Antoine ; Leduc, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789929/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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12

Nervous System Development and Disease: A Focus on Trithora..:

Moccia, Amanda ; Martin, Donna M
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828982/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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13

Mutations in Citron Kinase Cause Recessive Microlissencepha..:

Harding, Brian N ; Moccia, Amanda ; Drunat, Séverine...
Harding , BN , Moccia , A , Drunat , S , Soukarieh , O , Tubeuf , H , Chitty , LS , Verloes , A , Gressens , P , El Ghouzzi , V , Joriot , S , Di Cunto , F , Martins , A , Passemard , S & Bielas , SL 2016 , ' Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons ' , American Journal of Human Genetics , vol. 99 , no. 2 , pp. 511–520 . https://doi.org/10.1016/j.ajhg.2016.07.003.  , 2016
Link: https://kclpure.kcl.ac.u..
 
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14

Mutations in Citron Kinase Cause Recessive Microlissencepha..:

Harding, Brian N ; Moccia, Amanda ; Drunat, Séverine...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2016.07.003.  , 2016
Link: https://hal.science/hal-..
 
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15

Mutations in Citron Kinase Cause Recessive Microlissencepha..:

Harding, Brian N ; Moccia, Amanda ; Drunat, Séverine...
info:eu-repo/semantics/altIdentifier/pmid/27453579.  , 2016
Link: http://hdl.handle.net/23..
 
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