Search Results - "Chan AJS"

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Authors: Yiğit, Zehra Manav Erbaş, Aydan Mengübaş Türkyılmaz, Ayberk et al.

Source: Balkan Medical Journal. Feb2026, Vol. 43 Issue 2, p92-102. 11p.

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

MSL2 disruption leads to autism-like behaviors, impairs neurogenesis, and alters histone H4K16 acetylation.

Authors: Luo S Qu S Tan S et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2026 May 22; Vol. 83 (1). Date of Electronic Publication: 2026 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome.

Authors: Wang, Sifeng Yan, Shuyuan Xiao, Jingjun et al.

Source: Molecular Cytogenetics (17558166). 8/30/2023, Vol. 16 Issue 1, p1-5. 5p.

GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations.

Authors: Chirmade S Wang Z Mastromatteo S et al.

Source: Heredity [Heredity (Edinb)] 2026 Mar; Vol. 135 (3), pp. 199-210. Date of Electronic Publication: 2025 Nov 07.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0373007 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2540 (Electronic) Linking ISSN: 0018067X NLM ISO Abbreviation: Heredity (Edinb) Subsets: MEDLINE

Whole‐genome sequencing analysis of Japanese autism spectrum disorder trios.

Authors: Furukawa, Sawako Kushima, Itaru Kato, Hidekazu et al.

Source: Psychiatry & Clinical Neurosciences. Mar2025, Vol. 79 Issue 3, p87-97. 11p.

Subjects: Autism spectrum disorders, Whole genome sequencing, Phenotypes, Genetic variation, Genetic mutation, Japanese people, Neural development

Convergence and divergence of genes informed by common and rare variants of autism spectrum disorders in tissue-specific pathways and gene networks.

Authors: Gill C Zuo Y Ha DS et al.

Source: Translational psychiatry [Transl Psychiatry] 2026 Feb 06; Vol. 16 (1). Date of Electronic Publication: 2026 Feb 06.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

The mechanism of miR-155-5p in regulating autism-like behaviour, pain sensitivity and inflammatory response in brain tissue via the Wnt/β-catenin pathway in valproic acid rat model of autism spectrum disorder.

Authors: Zhao, J. Yin, X. Dong, L. et al.

Source: European Zoological Journal. Dec2025, Vol. 92 Issue 1, p709-719. 11p.

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.

Authors: Sarker, Shaoli Eshaque, Tamannyat Binte Soorajkumar, Anjana et al.

Source: Scientific Reports. 12/6/2023, Vol. 13 Issue 1, p1-11. 11p.

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

Authors: Abdi, Mona Aliyev, Elbay Trost, Brett et al.

Source: Genome Medicine. 10/7/2023, Vol. 15 Issue 1, p1-16. 16p.

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Authors: Lesurf, Robert Breckpot, Jeroen Bouwmeester, Jade et al.

Source: Genome Medicine. 10/15/2024, Vol. 16 Issue 1, p1-24. 24p.

Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.

Authors: Kim, Soo-Whee Lee, Hyeji Song, Da Yea et al.

Source: Genome Medicine. 9/27/2024, Vol. 16 Issue 1, p1-18. 18p.

Contracted functional connectivity profiles in autism.

Authors: Weber, Clara F. Kebets, Valeria Benkarim, Oualid et al.

Source: Molecular Autism. 9/11/2024, Vol. 15 Issue 1, p1-14. 14p.

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

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.

Authors: Faheem, Muhammad Deneault, Eric Alexandrova, Roumiana et al.

Source: BMC Medical Genomics. 1/12/2023, Vol. 16 Issue 1, p1-12. 12p.

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.

Authors: Tan S Lyu Y Sun X et al.

Source: Molecular psychiatry [Mol Psychiatry] 2026 Jul 16. Date of Electronic Publication: 2026 Jul 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Childhood motor speech disorders: who to prioritise for genetic testing.

Authors: Van Niel H Lauretta M Baker E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 639-648. Date of Electronic Publication: 2026 Jan 13.

Publication Type: Journal Article

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

Flexible and rapid validation of structural variation using adaptive sampling.

Authors: Paivandy A Lenner F Eisfeldt J et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 649-657. Date of Electronic Publication: 2026 Feb 23.

Publication Type: Journal Article

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

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Parental mental disorders in patients with comorbid schizophrenia and obsessive-compulsive disorder: a nationwide family-link study.

Authors: Hsu TW Tsai SJ Bai YM et al.

Source: European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2024 Dec; Vol. 33 (12), pp. 4325-4334. Date of Electronic Publication: 2024 May 30.

Publication Type: Journal Article

Journal Info: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9212296 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-165X (Electronic) Linking ISSN: 10188827 NLM ISO Abbreviation: Eur Child Adolesc Psychiatry Subsets: MEDLINE