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Minoche, André E.
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1

Quantitative ctDNA Detection in Hepatoblastoma: Implication..:

Kahana-Edwin, Smadar ; Torpy, James ; Cain, Lucy E....
Cancers.  16 (2023)  1 - p. 12 , 2023
Link: https://doi.org/10.3390/..
 
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Whole Genome Sequencing, Focused Assays and Functional Stud..:

Nash, Benjamin M. ; Ma, Alan ; Ho, Gladys...
International Journal of Molecular Sciences.  23 (2022)  7 - p. 3905 , 2022
Link: https://doi.org/10.3390/..
 
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Use of Whole-Genome Sequencing for Mitochondrial Disease Di..:

Davis, Ryan L. ; Kumar, Kishore R. ; Puttick, Clare...
Neurology.  99 (2022)  7 - p. , 2022
Link: https://doi.org/10.1212/..
 
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Whole exome and genome sequencing in mendelian disorders: a..:

Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah...
European Journal of Human Genetics.  30 (2022)  10 - p. 1121-1131 , 2022
Link: https://doi.org/10.1038/..
 
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5

Application of Genome Sequencing from Blood to Diagnose Mit..:

Rius, Rocio ; Compton, Alison G. ; Baker, Naomi L....
Genes.  12 (2021)  4 - p. 607 , 2021
Link: https://doi.org/10.3390/..
 
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Diagnostic Yield of Whole Genome Sequencing After Nondiagno..:

Palmer, Elizabeth Emma ; Sachdev, Rani ; Macintosh, Rebecca...
Neurology.  96 (2021)  13 - p. , 2021
Link: https://doi.org/10.1212/..
 
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7

Assembly and characterization of the genome of chard (Beta ..:

Lehner, Reinhard ; Blazek, Lisa ; Minoche, André E...
Journal of Biotechnology.  333 (2021)  - p. 67-76 , 2021
Link: https://doi.org/10.1016/..
 
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8

Genomic diagnostics in polycystic kidney disease: an assess..:

Mallawaarachchi, Amali C. ; Lundie, Ben ; Hort, Yvonne...
European Journal of Human Genetics.  29 (2021)  5 - p. 760-770 , 2021
Link: https://doi.org/10.1038/..
 
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9

ClinSV: clinical grade structural and copy number variant d..:

Minoche, Andre E. ; Lundie, Ben ; Peters, Greg B....
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Revealing hidden genetic diagnoses in the ocular anterior s..:

Ma, Alan ; Yousoof, Saira ; Grigg, John R....
Genetics in Medicine.  22 (2020)  10 - p. 1623-1632 , 2020
Link: https://doi.org/10.1038/..
 
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11

Canfam_GSD: De novo chromosome-length genome assembly of th..:

Ballard, J William O ; Zammit, Robert A ; Smith, Timothy P L...
GigaScience.  9 (2020)  4 - p. , 2020
Link: https://doi.org/10.1093/..
 
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12

The diagnostic utility of genome sequencing in a pediatric ..:

Riley, Lisa G. ; Cowley, Mark J. ; Gayevskiy, Velimir...
Genetics in Medicine.  22 (2020)  7 - p. 1254-1261 , 2020
Link: https://doi.org/10.1038/..
 
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13

The genome of Ectocarpus subulatus – A highly stress-tolera..:

Dittami, Simon M. ; Corre, Erwan ; Brillet-Guéguen, Loraine...
Marine Genomics.  52 (2020)  - p. 100740 , 2020
Link: https://doi.org/10.1016/..
 
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14

Whole genome sequencing for the genetic diagnosis of hetero..:

Kumar, Kishore R. ; Davis, Ryan L. ; Tchan, Michel C....
Parkinsonism & Related Disorders.  69 (2019)  - p. 111-118 , 2019
Link: https://doi.org/10.1016/..
 
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15

Increased Diagnostic Yield of Spastic Paraplegia with or Wi..:

Kim, Aryun ; Kumar, Kishore R. ; Davis, Ryan L....
The Cerebellum.  18 (2019)  4 - p. 781-790 , 2019
Link: https://doi.org/10.1007/..
 
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