Search Results - "Scherer SW"

Selective Serotonin Reuptake Inhibitors for Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.

Authors: Trinari, Elisabetta Noronha, Noella Juliana Papola, Davide et al.

Source: Clinical Medicine Insights: Pediatrics. 6/9/2026, Vol. 20, p1-15. 15p.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

Mapping the inter- and intra-genic codon-usage landscape in Homo sapiens.

Authors: Arshad M Uchmanowicz M Rana V et al.

Source: NAR genomics and bioinformatics [NAR Genom Bioinform] 2026 Mar 03; Vol. 8 (1), pp. lqag024. Date of Electronic Publication: 2026 Mar 03 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101756213 Publication Model: eCollection Cited Medium: Internet ISSN: 2631-9268 (Electronic) Linking ISSN: 26319268 NLM ISO Abbreviation: NAR Genom Bioinform Subsets: MEDLINE

Genome-wide characterization of copy number variants and their functional relevance in indigenous draught cattle of South Asia.

Authors: Mavunga, Tafara Kundai Sölkner, Johann Mészáros, Gábor et al.

Source: PLoS ONE. 7/13/2026, Vol. 21 Issue 7, p1-21. 21p.

GrassSV – hybrid method to detect structural variants in high throughput DNA-seq data.

Authors: Witczak, Dominik Sychla, Krzysztof Wysocka, Julia et al.

Source: PLoS Computational Biology. 6/22/2026, Vol. 22 Issue 6, p1-14. 14p.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Authors: Hou H Yuki KE Costain G et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 01; Vol. 10 (1), pp. 51. Date of Electronic Publication: 2025 Jul 01.

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: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Authors: Reko N Torabi-Marashi A Kallurkar P et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Aug 06; Vol. 113 (8), pp. 1665-1678. Date of Electronic Publication: 2026 Jul 23.

Publication Type: Journal Article

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

Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

Authors: Chen A Jain M Baribeau D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 29. Date of Electronic Publication: 2026 Jul 29.

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

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Authors: Bradley CA Ko SY Tian M et al.

Source: Nature [Nature] 2026 Jul; Vol. 655 (8122), pp. 418-428. Date of Electronic Publication: 2026 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

Authors: Reuter MS Salazar NB Howe JL et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 29; Vol. 11 (1), pp. 1. Date of Electronic Publication: 2025 Nov 29.

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: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

On the analysis of genetic association with long-read sequencing data.

Authors: He G Scherer SW Strug LJ

Source: PLoS genetics [PLoS Genet] 2025 Sep 29; Vol. 21 (9), pp. e1011887. Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Diverse short tandem repeat sequences influence gene regulation in human populations.

Authors: Mitina A Engchuan W Trost B et al.

Source: Genome biology [Genome Biol] 2025 Sep 12; Vol. 26 (1), pp. 279. Date of Electronic Publication: 2025 Sep 12.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol 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

Bridging cancer cell-intrinsic driver genes and -extrinsic cell-cell communication with Driver2Comm.

Authors: Xie, Runzhi Li, Junping Hu, Yuxuan et al.

Source: PLoS Computational Biology. 2/17/2026, Vol. 22 Issue 2, p1-26. 26p.

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The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.

Authors: Furley, Kirsten Teo, Audrey Williams, Katrina et al.

Source: Journal of Autism & Developmental Disorders. Jul2026, Vol. 56 Issue 7, p2721-2734. 14p.

Subjects: Medical information storage & retrieval systems, Child psychopathology, Research funding, Genomics, Children with disabilities, CINAHL database, Neurophysiology, Meta-analysis, Descriptive statistics, Systematic reviews, MEDLINE, Routine diagnostic tests, Developmental disabilities, Child development, Medical databases, Confidence intervals, Neuroradiology, Genetic testing, Psychology information storage & retrieval systems

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.

Authors: Sundberg M Shum C Norabuena EM et al.

Source: Neurobiology of disease [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107126. Date of Electronic Publication: 2025 Sep 25.

Publication Type: Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

Authors: Lu, Jinfeng Toro, Camilo Adams, David R. et al.

Source: BMC Genomics. 1/26/2024, Vol. 25 Issue 1, p1-22. 22p.

Is the extreme within-population genome size variation real in Spodoptera frugiperda?

Authors: Durand, Karine Nam, Kiwoong

Source: PLoS ONE. 9/30/2025, Vol. 20 Issue 9, p1-10. 10p.

Association of Angiotensin-converting enzyme (ACE) genetic variants with nephropathy in sickle cell disease: evidence from an Egyptian cohort.

Authors: El-Ghamrawy, Mona K. Khorshied, Mervat M. Eiswy, Yasmin M.R. et al.

Source: Egyptian Journal of Haematology. Jan-Mar2026, Vol. 51 Issue 1, p160-166. 7p.