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Fazal, Sarah
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1

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

A deep intronic FGF14 GAA repeat expansion causes late-onse..:

Pellerin, David ; Danzi, Matt ; Wilke, Carlo...
Journal of the Neurological Sciences.  455 (2023)  - p. 121139 , 2023
Link: https://doi.org/10.1016/..
 
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3

Deep structured learning for variant prioritization in Mend..:

Danzi, Matt C. ; Dohrn, Maike F. ; Fazal, Sarah...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

RFC1repeat expansions: A recurrent cause of sensory and aut..:

Beijer, Danique ; Dohrn, Maike F. ; De Winter, Jonathan...
European Journal of Neurology.  29 (2022)  7 - p. 2156-2161 , 2022
Link: https://doi.org/10.1111/..
 
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5

REViewer: haplotype-resolved visualization of read alignmen..:

Dolzhenko, Egor ; Weisburd, Ben ; Ibañez, Kristina...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Repeat expansions nested within tandem CNVs: a unique struc..:

Fazal, Sarah ; Danzi, Matt C ; van Kuilenburg, André B P...
Human Molecular Genetics.  32 (2022)  1 - p. 46-54 , 2022
Link: https://doi.org/10.1093/..
 
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7

Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat E..:

Beijer, Danique ; Dohrn, Maike ; De Winter, Jonathan...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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8

Integration of genomics and transcriptomics predicts diabet..:

Skol, Andrew D ; Jung, Segun C ; Sokovic, Ana Marija...
eLife.  9 (2020)  - p. , 2020
Link: https://doi.org/10.7554/..
 
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9

Genetic modifiers and non-Mendelian aspects of CMT:

Bis-Brewer, Dana M. ; Fazal, Sarah ; Züchner, Stephan
Brain Research.  1726 (2020)  - p. 146459 , 2020
Link: https://doi.org/10.1016/..
 
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10

Large scale in silico characterization of repeat expansion ..:

Fazal, Sarah ; Danzi, Matt C. ; Cintra, Vivian P....
Scientific Data.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

Inhibition of fascin in cancer and stromal cells blocks ova..:

McGuire, Sean ; Kara, Betul ; Hart, Peter C....
Gynecologic Oncology.  153 (2019)  2 - p. 405-415 , 2019
Link: https://doi.org/10.1016/..
 
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12

Targeting the CACNA1A IRES as a Treatment for Spinocerebell..:

Pastor, Parviz Daniel Hejazi ; Du, Xiaofei ; Fazal, Sarah..
The Cerebellum.  17 (2018)  1 - p. 72-77 , 2018
Link: https://doi.org/10.1007/..
 
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13

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042577/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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15

RFC1 repeat expansions: A recurrent cause of sensory and au..:

Beijer, Danique ; Dohrn, Maike F ; De Winter, Jonathan...
https://discovery.ucl.ac.uk/id/eprint/10145678/1/Euro%20J%20of%20Neurology%20-%202022%20-%20Beijer.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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