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Gregory Costain

Showing results (131-140 of 144) with videos related to

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Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
The Journal of Clinical Investigation|November 3, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Cell|November 11, 2022
Genomic architecture of autism from comprehensive whole-genome sequence annotationBrett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 15

Showing results (131-140 of 144) with videos related to

Sort By:
Pageof 15
Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
The Journal of Clinical Investigation|November 3, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Cell|November 11, 2022
Genomic architecture of autism from comprehensive whole-genome sequence annotationBrett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 15