Search Results - "Chan AJS"

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Authors: Newman H Wong D Wu J et al.

Source: HemaSphere [Hemasphere] 2025 Nov 25; Vol. 9 (11), pp. e70269. Date of Electronic Publication: 2025 Nov 25 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.

Authors: Wang J Peterson JT Santos JDD et al.

Source: Frontiers in pharmacology [Front Pharmacol] 2025 Apr 09; Vol. 16, pp. 1507493. Date of Electronic Publication: 2025 Apr 09 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Authors: Ding Q Somerville C Manshaei R et al.

Source: Human genetics [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 201-216. Date of Electronic Publication: 2022 Nov 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Authors: Chan AJS Engchuan W Reuter MS et al.

Source: Nature communications [Nat Commun] 2022 Oct 29; Vol. 13 (1), pp. 6463. Date of Electronic Publication: 2022 Oct 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Three generation families: Analysis of de novo variants in autism.

Authors: Costa CIS da Silva Campos G da Silva Montenegro EM et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Sep; Vol. 31 (9), pp. 1017-1022. Date of Electronic Publication: 2023 Jun 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Authors: da Silva Montenegro EM Costa CS Campos G et al.

Source: Autism research : official journal of the International Society for Autism Research [Autism Res] 2020 Feb; Vol. 13 (2), pp. 199-206. Date of Electronic Publication: 2019 Nov 06.

Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101461858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-3806 (Electronic) Linking ISSN: 19393806 NLM ISO Abbreviation: Autism Res Subsets: MEDLINE

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Authors: Zarrei M Burton CL Engchuan W et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2019 Oct 07; Vol. 4, pp. 26. Date of Electronic Publication: 2019 Oct 07 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Authors: Chan AJS Cytrynbaum C Hoang N et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2019 Apr 26; Vol. 4, pp. 9. Date of Electronic Publication: 2019 Apr 26 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Authors: Trost B Thiruvahindrapuram B Chan AJS et al.

Source: Cell [Cell] 2022 Nov 10; Vol. 185 (23), pp. 4409-4427.e18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Authors: Uddin M Woodbury-Smith M Chan AJS et al.

Source: G3 (Bethesda, Md.) [G3 (Bethesda)] 2018 Mar 28; Vol. 8 (4), pp. 1115-1118. Date of Electronic Publication: 2018 Mar 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Electronic Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Authors: Trost B Walker S Wang Z et al.

Source: American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 142-155.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE