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Periodical

Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue

Authors : Haque, Bushra; Cheerie, David; Birkadze, Saba

Source: European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p238-242, 5p

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Periodical

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

Authors : Fehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat

Source: Nature Genetics; 20240101, Issue: Preprints p1-10, 10p

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Periodical

Three generation families: Analysis of de novo variants in autism

Authors : Costa, Claudia I. Samogy; da Silva Campos, Gabriele; da Silva Montenegro, Eduarda Morgana

Source: European Journal of Human Genetics: EJHG; September 2023, Vol. 31 Issue: 9 p1017-1022, 6p

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Periodical

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Authors : Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma

Source: CMAJ: Canadian Medical Association Journal. February 5, 2018, Vol. 190 Issue 5, pE126, 11 p.

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Periodical

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

Authors : Wen, Jia; Trost, Brett; Engchuan, Worrawat

Source: Molecular Psychiatry; January 2023, Vol. 28 Issue: 1 p475-482, 8p

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Periodical

Rare copy number variation in posttraumatic stress disorder

Authors : Maihofer, Adam X.; Engchuan, Worrawat; Huguet, Guillaume

Source: Molecular Psychiatry; December 2022, Vol. 27 Issue: 12 p5062-5069, 8p

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Periodical

Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis

Authors : Jegathisawaran, Jathishinie; Tsiplova, Kate; Hayeems, Robin Z.

Source: Genetics in Medicine; May 2022, Vol. 24 Issue: 5 p1027-1036, 10p

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Periodical

Genome-wide tandem repeat expansions contribute to schizophrenia risk

Authors : Mojarad, Bahareh A.; Engchuan, Worrawat; Trost, Brett

Source: Molecular Psychiatry; 20220101, Issue: Preprints p1-7, 7p

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Periodical

Genome-wide detection of tandem DNA repeats that are expanded in autism

Authors : Trost, Brett; Engchuan, Worrawat; Nguyen, Charlotte M.

Source: Nature; October 2020, Vol. 586 Issue: 7827 p80-86, 7p

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Periodical

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees

Authors : Woodbury‐Smith, Marc; Zarrei, Mehdi; Wei, John

Source: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; July 2020, Vol. 183 Issue: 5 p268-276, 9p

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