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Liu, Ruby
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1

Focused Exome Sequencing Gives a High Diagnostic Yield in t..:

Duraisamy, Arul J. ; Liu, Ruby ; Sureshkumar, Shruti...
The Journal of Molecular Diagnostics.  26 (2024)  6 - p. 510-519 , 2024
Link: https://doi.org/10.1016/..
 
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2

P599: Beyond single nucleotide variants and copy number var..:

Liu, Ruby ; Reddy Nallamilli, Babi Ramesh ; Collins, Christin..
Genetics in Medicine Open.  2 (2024)  - p. 101505 , 2024
Link: https://doi.org/10.1016/..
 
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3

P729: Identification of multiple diagnoses in pediatric pat..:

Collins, Christin ; Guo, Fen ; Liu, Ruby...
Genetics in Medicine Open.  2 (2024)  - p. 101633 , 2024
Link: https://doi.org/10.1016/..
 
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4

P638: Genomic breakpoint analysis facilitates identificatio..:

Guruju, Naga ; Jump, Vanessa ; Liu, Ruby...
Genetics in Medicine Open.  2 (2024)  - p. 101544 , 2024
Link: https://doi.org/10.1016/..
 
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5

Evidence from 2100 index cases supports genome sequencing a..:

Guo, Fen ; Liu, Ruby ; Pan, Yinghong...
Genetics in Medicine.  26 (2024)  1 - p. 100995 , 2024
Link: https://doi.org/10.1016/..
 
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6

P696: Case presentation: Co-segregation of a rare GLA varia..:

Colasanto, Mary ; Pan, Yinghong ; Liu, Ruby..
Genetics in Medicine Open.  2 (2024)  - p. 101600 , 2024
Link: https://doi.org/10.1016/..
 
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7

Beyond Single Diagnosis: Exploring Multidiagnostic Realitie..:

Guo, Fen ; Liu, Ruby ; Pan, Yinghong...
Human Mutation.  2024 (2024)  - p. 1-19 , 2024
Link: https://doi.org/10.1155/..
 
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8

P714: Genome screening of newborns: Sequencing is easy, ass..:

Balciuniene, Jorune ; Liu, Ruby ; Bean, Lora...
Genetics in Medicine Open.  2 (2024)  - p. 101618 , 2024
Link: https://doi.org/10.1016/..
 
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9

P679: Ultrarapid whole genome sequencing facilitates early ..:

Nallamilli, Babi Ramesh Reddy ; Lakshmanan, Jagannathan ; Ramachander, Vinish...
Genetics in Medicine Open.  2 (2024)  - p. 101583 , 2024
Link: https://doi.org/10.1016/..
 
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10

P643: Unveiling noncoding DMD variants: Synergizing RNA seq..:

Pan, Yinghong ; Guo, Fen ; Ma, Zeqiang...
Genetics in Medicine Open.  2 (2024)  - p. 101549 , 2024
Link: https://doi.org/10.1016/..
 
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11

P502: How does multiomics help variant reclassification?:

Liu, Ruby ; Guo, Fen ; Reddy Nallamilli, Babi Ramesh...
Genetics in Medicine Open.  1 (2023)  1 - p. 100549 , 2023
Link: https://doi.org/10.1016/..
 
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12

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by ..:

Rice, Stephanie ; Varotsis, Dante ; Wodoslawsky, Sascha...
Genetics in Medicine Open.  1 (2023)  1 - p. 100695 , 2023
Link: https://doi.org/10.1016/..
 
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13

P476: Identification and accurate sizing of D4Z4 repeat uni..:

Guruju, Naga ; Jump, Vanessa ; Nallamilli, Babi...
Genetics in Medicine Open.  1 (2023)  1 - p. 100523 , 2023
Link: https://doi.org/10.1016/..
 
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14

P426: Recognizing the promise and potential pitfalls of gen..:

Bean, Lora ; Collins, Christin ; Guo, Fen...
Genetics in Medicine Open.  1 (2023)  1 - p. 100473 , 2023
Link: https://doi.org/10.1016/..
 
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15

P389: Real-world evidence demonstrating why genome sequenci..:

Guo, Fen ; Liu, Ruby ; Pan, Yinghong...
Genetics in Medicine Open.  1 (2023)  1 - p. 100425 , 2023
Link: https://doi.org/10.1016/..
 
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