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Hegde, Madhuri
275  results:
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1

Parallel biochemical and genetic testing informs a timely a..:

Miller, Vanessa Rangel ; Daugherty, Sean ; Gupta, Rupal N....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108015 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

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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4

P053: Understanding the measurement of nicotinamide adenine..:

Smith, Sara ; Ellgass, Madeline ; Park, Ariana...
Genetics in Medicine Open.  2 (2024)  - p. 100930 , 2024
Link: https://doi.org/10.1016/..
 
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5

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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6

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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7

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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8

P581: Comparison of GLA variant profile in newborn screenin..:

Chen-Deutsch, Xiangwen ; Yousaf, Rizwan ; Pan, Yinghong..
Genetics in Medicine Open.  2 (2024)  - p. 101487 , 2024
Link: https://doi.org/10.1016/..
 
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9

More Than a Decade of Rapid Genomic Sequencing: Where Are W..:

Saunders, Carol J ; Brunelli, Luca ; Deem, Michael J...
Clinical Chemistry.  70 (2024)  4 - p. 577-583 , 2024
Link: https://doi.org/10.1093/..
 
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10

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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11

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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12

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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13

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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14

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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15

P634: Development of a hemolysis index for Vanadis® cfDNA N..:

Luo, Zhiwen ; Shenoy, Suresh ; Donti, Taraka...
Genetics in Medicine Open.  1 (2023)  1 - p. 100690 , 2023
Link: https://doi.org/10.1016/..
 
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