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Stavropoulos, Dimitri J
122
results:
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Online (122)
Mediatypes
Articles (Online) (60)
OpenAccess-fulltext (62)
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1
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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2
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/..
?
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/..
?
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
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/..
?
6
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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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/..
?
8
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/..
?
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/..
?
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
Stable transmission of an unbalanced chromosome 21 derived ..:
Sabatini, Peter J. B.
;
Ejaz, Resham
;
Stavropoulos, Dimitri J.
..
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
1-15