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Academic Journal

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

  • Authors : Radford EJ; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.; Department of Paediatrics, University of Cambridge, Level 8, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

Subjects: Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Female

  • Source: Nature communications [Nat Commun] 2023 Dec 06; Vol. 14 (1), pp. 7702. Date of Electronic Publication: 2023 Dec 06.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

  • Authors : Levitin MO; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Evox Therapeutics Limited, Oxford OX4 4HG, UK.

Subjects: Signal Transduction*/Signal Transduction*/Signal Transduction*/genetics ; TOR Serine-Threonine Kinases*/TOR Serine-Threonine Kinases*/TOR Serine-Threonine Kinases*/metabolism; Humans

  • Source: Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4766-4783.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Rare genetic variants impact muscle strength.

Subjects: Hand Strength* ; Muscular Diseases*; Humans

  • Source: Nature communications [Nat Commun] 2023 Jun 10; Vol. 14 (1), pp. 3449. Date of Electronic Publication: 2023 Jun 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

The impact of rare protein coding genetic variation on adult cognitive function.

Subjects: Genetic Variation* ; Neurodevelopmental Disorders*; Humans

  • Source: Nature genetics [Nat Genet] 2023 Jun; Vol. 55 (6), pp. 927-938. Date of Electronic Publication: 2023 May 25.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Optimized whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells.

  • Authors : Usluer S; Wellcome Sanger Institute, Cambridge, UK. Electronic address: .; Hallast P

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism; Humans ; CRISPR-Cas Systems/CRISPR-Cas Systems/CRISPR-Cas Systems/genetics

  • Source: Stem cell reports [Stem Cell Reports] 2023 May 09; Vol. 18 (5), pp. 1061-1074. Date of Electronic Publication: 2023 Apr 06.Publisher: Cell Press Country of Publication: United States NLM ID: 101611300 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Differentiation of human induced pluripotent stem cells into cortical neural stem cells.

  • Authors : Neaverson A; Wellcome Sanger Institute, Cambridge, United Kingdom.; Open Targets, Wellcome Genome Campus, Hinxton, United Kingdom.

  • Source: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Jan 05; Vol. 10, pp. 1023340. Date of Electronic Publication: 2023 Jan 05 (Print Publication: 2022).Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited

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Academic Journal

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Subjects: Gene Expression Regulation, Developmental*; ADAMTS Proteins/ADAMTS Proteins/ADAMTS Proteins/*metabolism ; Heart Valve Diseases/Heart Valve Diseases/Heart Valve Diseases/*etiology

  • Source: Nature genetics [Nat Genet] 2020 Jan; Vol. 52 (1), pp. 40-47. Date of Electronic Publication: 2019 Dec 16.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Contribution of retrotransposition to developmental disorders.

  • Authors : Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, CB10 1SA, UK.; Prigmore E

Subjects: Genetic Variation*; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Retroelements/Retroelements/Retroelements/*physiology

  • Source: Nature communications [Nat Commun] 2019 Oct 11; Vol. 10 (1), pp. 4630. Date of Electronic Publication: 2019 Oct 11.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pathogenicity and selective constraint on variation near splice sites.

Subjects: Mutation* ; RNA Splice Sites*; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics

  • Source: Genome research [Genome Res] 2019 Feb; Vol. 29 (2), pp. 159-170. Date of Electronic Publication: 2018 Dec 26.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  46 results for ""Gerety, Sebastian S.""