نتائج البحث

Transgenerational effects of paternal exposures: the role of germline de novo mutations.

• Authors : Dehghanbanadaki, Hojat¹ (AUTHOR); Jimbo, Masaya¹ (AUTHOR); Fendereski, Kiarad¹ (AUTHOR)

• Source: Andrology. Jan2025, Vol. 13 Issue 1, p101-118. 18p.

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Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis.

• Authors : Guan, Jing^1,2,3 (AUTHOR) ; Wu, Xiaonan^1,2,3 (AUTHOR); Zhang, Jiao^1,2,3 (AUTHOR)

• Source: Journal of Neurogenetics. Mar2024, Vol. 38 Issue 1, p9-18. 10p.

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RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.

• Authors : Zheng, Simin¹ (AUTHOR); Huang, Huanyang¹ (AUTHOR); Ma, Li² (AUTHOR)

• Source: BMC Medical Genomics. 8/24/2022, Vol. 15 Issue 1, p1-10. 10p.

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Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.

• Authors : Li, Kuokuo^1,2,3,4; Fang, Zhenghuan²; Zhao, Guihu¹

• Source: Journal of Autism & Developmental Disorders. Mar2022, Vol. 52 Issue 3, p1299-1313. 15p. 2 Charts, 3 Graphs.

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Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.

• Authors : Liu, Liying¹ (AUTHOR); Liu, Fang^2,3 (AUTHOR); Wang, Qiuhong¹ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2021, Vol. 9 Issue 6, p1-15. 15p.

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Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.

• Authors : Mo Li¹; Xue Zeng²; Jin, Chentian³

• Source: Quantitative Biology. Jun2021, Vol. 9 Issue 2, p216-227. 12p.

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Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.

• Authors : Zhao, Guihu^1,2 (AUTHOR); Li, Kuokuo³ (AUTHOR); Li, Bin^1,2 (AUTHOR)

Subjects: *FALSE discovery rate; *NEUROBEHAVIORAL disorders; *GENETIC mutation

• Source: Nucleic Acids Research. 1/8/2020, Vol. 48 Issue D1, pD913-D926. 14p.

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HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data.

• Authors : Zhou, Xin¹ ; Batzoglou, Serafim¹ ; Sidow, Arend^2,3

• Source: BMC Genomics. 6/18/2018, Vol. 19 Issue 1, p1-7. 7p. 1 Diagram, 3 Charts, 1 Graph.

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

• Authors : Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia ...

Subjects: Male; Adult; 0301 basic medicine

• Source: Am J Hum Genet

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Evidence of Site-Specific and Male-Biased Germline Mutation Rate in a Wild Songbird

• Authors : Zhang, Hongkai; Lundberg, Max; Tarka, Maja

Subjects: bird; CpG sites; de novo mutation

• Source: Genome Biology and Evolution. 15(11)

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