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Austin-Tse, Christina A.
112  results:
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1

P570: Generating a framework for curating mechanism of dise..:

DiStefano, Marina ; Alkuraya, Fowzan ; Amberger, Joanna...
Genetics in Medicine Open.  2 (2024)  - p. 101476 , 2024
Link: https://doi.org/10.1016/..
 
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2

De novo TLK1 and MDM1 mutations in a patient with a neurode..:

Villamor-Payà, Marina ; Sanchiz-Calvo, María ; Smak, Jordann...
iScience.  27 (2024)  6 - p. 109984 , 2024
Link: https://doi.org/10.1016/..
 
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3

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics.  111 (2024)  5 - p. 863-876 , 2024
Link: https://doi.org/10.1016/..
 
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4

Considerations for reporting variants in novel candidate ge..:

Chong, Jessica X. ; Berger, Seth I. ; Baxter, Samantha...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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5

P575: The Rare Genomes Project: Improving access to genomic..:

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie...
Genetics in Medicine Open.  2 (2024)  - p. 101481 , 2024
Link: https://doi.org/10.1016/..
 
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6

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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7

P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in ..:

Biddle, Joseph ; Campbell, Teresa ; Sanchis-Juan, Alba...
Genetics in Medicine Open.  2 (2024)  - p. 101136 , 2024
Link: https://doi.org/10.1016/..
 
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8

P523: The NeuroDev Study: Genetic characterization of neuro..:

O'Heir, Emily ; Kipkemoi, Patricia ; Kim, Heesu Ally...
Genetics in Medicine Open.  1 (2023)  1 - p. 100570 , 2023
Link: https://doi.org/10.1016/..
 
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9

Systematic evaluation of genome sequencing for the diagnost..:

Lowther, Chelsea ; Valkanas, Elise ; Giordano, Jessica L....
The American Journal of Human Genetics.  110 (2023)  9 - p. 1454-1469 , 2023
Link: https://doi.org/10.1016/..
 
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10

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine.  29 (2023)  1 - p. 180-189 , 2023
Link: https://doi.org/10.1038/..
 
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11

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine.  30 (2023)  1 - p. 302-302 , 2023
Link: https://doi.org/10.1038/..
 
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12

Phenotype and genetic analysis of data collected within the..:

Kipkemoi, Patricia ; Kim, Heesu Ally ; Christ, Bjorn...
Neuron.  111 (2023)  18 - p. 2800-2810.e5 , 2023
Link: https://doi.org/10.1016/..
 
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13

P451: The Gene Curation Coalition works to resolve discrepa..:

DiStefano, Marina ; Amberger, Joanna ; Austin-Tse, Christina...
Genetics in Medicine Open.  1 (2023)  1 - p. 100498 , 2023
Link: https://doi.org/10.1016/..
 
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14

Endophenotype effect sizes support variant pathogenicity in..:

Halford, Jennifer L. ; Morrill, Valerie N. ; Choi, Seung Hoan...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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15

The Gene Curation Coalition: A global effort to harmonize g..:

DiStefano, Marina T. ; Goehringer, Scott ; Babb, Lawrence...
Genetics in Medicine.  24 (2022)  8 - p. 1732-1742 , 2022
Link: https://doi.org/10.1016/..
 
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