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1 . Academic Journal
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis
저자
by
Jegathisawaran, Jathishinie
;
Tsiplova, Kate
;
Hayeems, Robin Z.
;
Marshall, Christian R.
;
Stavropoulos, Dimitri J.
, et al.
소스
In
Genetics in Medicine
May 2022 24(5):1027-1036
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7 . Book
Chapter 5 - Principles of Clinical Cytogenetics and Genome Analysis
저자
by
Stavropoulos, Dimitri J.
.
소스
In
Thompson & Thompson Genetics and Genomics in Medicine
Edition: Ninth Edition. 2024:61-78
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3 .
Chapter Contributors
저자
by
Abecasis, Gonçalo R.
;
Applegate, Carolyn Dinsmore
;
Arbour, Laura
;
Beck, Christine R.
;
Cohn, Iris
, et al.
소스
In
Thompson & Thompson Genetics and Genomics in Medicine
Edition: Ninth Edition. 2024:v-vii
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7 . Academic Journal
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
저자
by
Fehlings, Darcy L.
;
Zarrei, Mehdi
;
Engchuan, Worrawat
;
Sondheimer, Neal
;
Thiruvahindrapuram, Bhooma
, et al.
소스
Nature Genetics
. 56(4):585-594
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7 . Academic Journal
The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
저자
by
Woodbury-Smith, Marc
;
D’Abate, Lia
;
Stavropoulos, Dimitri J.
;
Howe, Jennifer
;
Drmic, Irene
, et al.
소스
Journal of Medical Genetics; Dec2023, Vol. 60 Issue 12, p1153-1160, 37p
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7 . Academic Journal
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
저자
by
Lazier, Joanna
;
Hartley, Taila
;
Brock, Jo-Ann
;
Caluseriu, Oana
;
Chitayat, David
, et al.
소스
Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p931-937, 7p
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7 . Academic Journal
Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication.
저자
by
Drmic, Irene E.
;
MacKinnon Modi, Bonnie
;
McConnell, Beth
;
Jilderda, Sanne
;
Hoang, Ny
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p2999-3008, 10p
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7 . Academic Journal
A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype.
저자
by
Vincent, Krista Marie
;
Stavropoulos, Dimitri J.
;
Beaulieu‐Bergeron, Melanie
;
Yang, Chen
;
Jiang, Mary
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2421-2428, 8p
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7 . Academic Journal
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
저자
by
Chan, Ada J. S.
;
Engchuan, Worrawat
;
Reuter, Miriam S.
;
Wang, Zhuozhi
;
Thiruvahindrapuram, Bhooma
, et al.
소스
Nature Communications
. 13(1)
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7 . Academic Journal
Mosaic microdeletion 18q21 as a cause of mental retardation
저자
by
Stavropoulos, Dimitri J.
;
MacGregor, Daune L.
;
Yoon, Grace
.
소스
In
European Journal of Medical Genetics
2010 53(6):396-399
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