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Stavropoulos, Dimitri J.
126  Ergebnisse:
Personensuche X
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1

O05: A micro-costing and cost-effectiveness analysis of gen..:

Ungar, Wendy ; Wu, Vercancy ; Marshall, Christian...
Genetics in Medicine Open.  2 (2024)  - p. 101365 , 2024
Link: https://doi.org/10.1016/..
 
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2

P740: DMD or not DMD? Clinical genome sequencing in the int..:

Higginbotham, Edward ; Lau, Lynette ; Thiruvahindrapuram, Bhooma...
Genetics in Medicine Open.  2 (2024)  - p. 101644 , 2024
Link: https://doi.org/10.1016/..
 
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3

The Phenotypic variability of 16p11.2 distal BP2–BP3 deleti..:

Woodbury-Smith, Marc ; D'Abate, Lia ; Stavropoulos, Dimitri J...
Journal of Medical Genetics.  60 (2023)  12 - p. 1153-1160 , 2023
Link: https://doi.org/10.1136/..
 
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4

Gene copy number variation and pediatric mental health/neur..:

Zarrei, Mehdi ; Burton, Christie L ; Engchuan, Worrawat...
Human Molecular Genetics.  32 (2023)  15 - p. 2411-2421 , 2023
Link: https://doi.org/10.1093/..
 
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5

A 79‐kb paternally inherited 7q32.2 microdeletion involving..:

Vincent, Krista Marie ; Stavropoulos, Dimitri J. ; Beaulieu‐Bergeron, Melanie...
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2421-2428 , 2022
Link: https://doi.org/10.1002/..
 
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6

Trio genome sequencing for developmental delay and pediatri..:

Jegathisawaran, Jathishinie ; Tsiplova, Kate ; Hayeems, Robin Z....
Genetics in Medicine.  24 (2022)  5 - p. 1027-1036 , 2022
Link: https://doi.org/10.1016/..
 
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7

Neurodevelopmental functioning in probands and non‐proband ..:

Drmic, Irene E. ; MacKinnon Modi, Bonnie ; McConnell, Beth...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2999-3008 , 2022
Link: https://doi.org/10.1002/..
 
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8

Genome-wide rare variant score associates with morphologica..:

Chan, Ada J. S. ; Engchuan, Worrawat ; Reuter, Miriam S....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Clinical application of fetal genome-wide sequencing during..:

Lazier, Joanna ; Hartley, Taila ; Brock, Jo-Ann...
Journal of Medical Genetics.  59 (2021)  10 - p. 931-937 , 2021
Link: https://doi.org/10.1136/..
 
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10

RCL1 copy number variants are associated with a range of ne..:

Brownstein, Catherine A. ; Smith, Richard S. ; Rodan, Lance H....
Molecular Psychiatry.  26 (2021)  5 - p. 1706-1718 , 2021
Link: https://doi.org/10.1038/..
 
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11

Segregating patterns of copy number variations in extended ..:

Woodbury‐Smith, Marc ; Zarrei, Mehdi ; Wei, John...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  183 (2020)  5 - p. 268-276 , 2020
Link: https://doi.org/10.1002/..
 
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12

Best practices for the analytical validation of clinical wh..:

Marshall, Christian R. ; Chowdhury, Shimul ; Taft, Ryan J....
npj Genomic Medicine.  5 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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13

Return of genetic and genomic research findings: experience..:

Papaz, Tanya ; Liston, Eriskay ; Zahavich, Laura...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

Implementation of Epilepsy Multigene Panel Testing in Ontar..:

Dyment, David A. ; Prasad, Asuri N. ; Boycott, Kym M....
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  47 (2019)  1 - p. 61-68 , 2019
Link: https://doi.org/10.1017/..
 
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15

Copy number variant discrepancy resolution using the ClinGe..:

Riggs, Erin R. ; Nelson, Tristan ; Merz, Andrew...
Human Mutation.  39 (2018)  11 - p. 1650-1659 , 2018
Link: https://doi.org/10.1002/..
 
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