Search Results - "Scherer SW"

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Authors: Kwasnicka-Crawford DA Roberts W Scherer SW

Source: Journal of Autism & Developmental Disorders. Apr2007, Vol. 37 Issue 4, p694-702. 9p.

Autism spectrum disorder in the genetics clinic: a review.

Authors: Carter, MT Scherer, SW

Source: Clinical Genetics. May2013, Vol. 83 Issue 5, p399-407. 9p. 1 Diagram, 3 Charts.

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

Authors: Carter, MT Nikkel, SM Fernandez, BA et al.

Source: Clinical Genetics. Nov2011, Vol. 80 Issue 5, p435-443. 9p. 1 Color Photograph, 1 Diagram, 1 Chart.

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Authors: Somerville MJ Mervis CB Young EJ et al.

Source: New England Journal of Medicine. 10/20/2005, Vol. 353 Issue 16, p1694-1701. 8p.

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

Quantum computing and the implementation of precision medicine.

Authors: Nassir N Hashmi MA Raji KG et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Dec 03; Vol. 10 (1), pp. 80. Date of Electronic Publication: 2025 Dec 03.

Publication Type: Journal Article; Review

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

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Authors: Awamleh Z Chen A Choufani S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102636. Date of Electronic Publication: 2026 Jun 19.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Authors: Wang M Helal S Torabi-Marashi A et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1233-1252. Date of Electronic Publication: 2026 May 13.

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

Large Models for Small Tables: Adapting Tabular Foundation Models to EHR Data.

Authors: Zhu R Zhou X Liang I et al.

Source: AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science [AMIA Jt Summits Transl Sci Proc] 2026 Jun 01; Vol. 2026, pp. 604-613. Date of Electronic Publication: 2026 Jun 01 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: AMIA Country of Publication: United States NLM ID: 101539486 Publication Model: eCollection Cited Medium: Internet ISSN: 2153-4063 (Electronic) NLM ISO Abbreviation: AMIA Jt Summits Transl Sci Proc Subsets: PubMed not MEDLINE

Foundation Model-Guided Synthetic EHR Release: Performance Enhancement with Privacy Preservation.

Authors: Zhu R Zhou X Liang I et al.

Source: AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science [AMIA Jt Summits Transl Sci Proc] 2026 Jun 01; Vol. 2026, pp. 614-622. Date of Electronic Publication: 2026 Jun 01 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: AMIA Country of Publication: United States NLM ID: 101539486 Publication Model: eCollection Cited Medium: Internet ISSN: 2153-4063 (Electronic) NLM ISO Abbreviation: AMIA Jt Summits Transl Sci Proc Subsets: PubMed not 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

The Genome Sequence of the Hemlock Woolly Adelgid, Adelges tsugae Annand 1924.

Authors: Brunet BMT Dial DT Burke GR et al.

Source: Genome biology and evolution [Genome Biol Evol] 2025 Sep 30; Vol. 17 (10).

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101509707 Publication Model: Print Cited Medium: Internet ISSN: 1759-6653 (Electronic) Linking ISSN: 17596653 NLM ISO Abbreviation: Genome Biol Evol Subsets: 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

Genetic Architecture and Risk of Childhood Maltreatment Across 5 Psychiatric Diagnoses.

Authors: Nielsen TT Bali P Grove J et al.

Corporate Authors: Nielsen TT Bali P Grove J et al.

Source: JAMA psychiatry [JAMA Psychiatry] 2025 Aug 01; Vol. 82 (8), pp. 790-800.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print Cited Medium: Internet ISSN: 2168-6238 (Electronic) Linking ISSN: 2168622X NLM ISO Abbreviation: JAMA Psychiatry Subsets: MEDLINE

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

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