Search Results - "Bain JM"

Addressing the needs of nano-rare patients: the n-Lorem experience.

Authors: Crooke ST Glass S Gleeson JG et al.

Source: Nucleic acids research [Nucleic Acids Res] 2026 May 20; Vol. 54 (10).

Publication Type: Journal Article; Review

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Early Detection of Cerebral Palsy Using Standardized Screening Assessments in Neonatal Hypoxic Ischemic Encephalopathy: A Pilot Case Series.

Authors: Kerner-Rossi M Gomes W Sands T et al.

Source: Journal of child neurology [J Child Neurol] 2026 Feb 13, pp. 8830738251413829. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Authors: Hodgson AKO Baxandall L Aiyedun D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jun; Vol. 197 (6), pp. e64013. Date of Electronic Publication: 2025 Feb 20.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

Authors: Lewis SA Chopra M Cohen JS et al.

Source: JAMA pediatrics [JAMA Pediatr] 2025 Feb 01; Vol. 179 (2).

Publication Type: Journal Article; Systematic Review; Meta-Analysis

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE

Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder.

Authors: Sudnawa KK Pini N Li W et al.

Source: Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 34-43. Date of Electronic Publication: 2024 Aug 21.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Authors: Gehin C Lone MA Lee W et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Nov 03; Vol. 135 (21). Date of Electronic Publication: 2025 Nov 03 (Print Publication: 2025).

Publication Type: Published Erratum

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE; In Process

Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic.

Authors: Firestein MR Manessis A Warmingham JM et al.

Source: JAMA network open [JAMA Netw Open] 2024 Sep 03; Vol. 7 (9), pp. e2435005. Date of Electronic Publication: 2024 Sep 03.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Authors: Sudnawa KK Garber A Cohen R et al.

Source: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 523-532. Date of Electronic Publication: 2024 Jan 21.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

Authors: Myers SJ Yuan H Perszyk RE et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Sep 16; Vol. 32 (19), pp. 2857-2871.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.

Authors: Bi X Mulhern MS Spiegel E et al.

Source: Genes [Genes (Basel)] 2023 Aug 25; Vol. 14 (9). Date of Electronic Publication: 2023 Aug 25.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Assessing the feasibility of using the ketogenic diet in autism spectrum disorder.

Authors: Albers J Kraja G Eller D et al.

Source: Journal of human nutrition and dietetics : the official journal of the British Dietetic Association [J Hum Nutr Diet] 2023 Aug; Vol. 36 (4), pp. 1303-1315. Date of Electronic Publication: 2023 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Wiley on behalf of The British Dietetic Association Ltd., [c1988- Country of Publication: England NLM ID: 8904840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-277X (Electronic) Linking ISSN: 09523871 NLM ISO Abbreviation: J Hum Nutr Diet Subsets: MEDLINE

Glucose-enhanced oxidative stress resistance-A protective anticipatory response that enhances the fitness of Candida albicans during systemic infection.

Authors: Larcombe DE Bohovych IM Pradhan A et al.

Source: PLoS pathogens [PLoS Pathog] 2023 Jul 10; Vol. 19 (7), pp. e1011505. Date of Electronic Publication: 2023 Jul 10 (Print Publication: 2023).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7374 (Electronic) Linking ISSN: 15537366 NLM ISO Abbreviation: PLoS Pathog Subsets: MEDLINE

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Authors: Gonzalez JN Goldman S Carter MT et al.

Source: Genes [Genes (Basel)] 2023 May 26; Vol. 14 (6). Date of Electronic Publication: 2023 May 26.

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

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy.

Authors: Firestein MR Shuffrey LC Hu Y et al.

Source: JAMA network open [JAMA Netw Open] 2023 Apr 03; Vol. 6 (4), pp. e237396. Date of Electronic Publication: 2023 Apr 03.

Publication Type: Observational Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders.

Authors: Ham A Chang AY Li H et al.

Source: Molecular psychiatry [Mol Psychiatry] 2025 Feb; Vol. 30 (2), pp. 810-824.

Publication Type: Journal Article

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

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

Authors: McGee SR Rajamanickam S Adhikari S et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 386-401.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Motor phenotypes associated with genetic neurodevelopmental disorders.

Authors: Santana Almansa A Snyder LG Chung WK et al.

Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Dec; Vol. 11 (12), pp. 3238-3245. Date of Electronic Publication: 2024 Nov 02.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Hyphal swelling induced in the phagosome of macrophages.

Authors: Alonso MF Bain JM Erwig LP et al.

Source: Fungal biology [Fungal Biol] 2024 Nov; Vol. 128 (7), pp. 2148-2156. Date of Electronic Publication: 2024 Sep 02.

Publication Type: Journal Article

Journal Info: Publisher: Published by Elsevier, copyright by British Mycological Society Country of Publication: Netherlands NLM ID: 101524465 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-6146 (Print) NLM ISO Abbreviation: Fungal Biol Subsets: MEDLINE

Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.

Authors: Ziegler A Carroll J Bain JM et al.

Source: Nature medicine [Nat Med] 2024 Oct; Vol. 30 (10), pp. 2782-2786. Date of Electronic Publication: 2024 Aug 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection.

Authors: Shuffrey LC Firestein MR Kyle MH et al.

Source: JAMA pediatrics [JAMA Pediatr] 2022 Jun 01; Vol. 176 (6), pp. e215563. Date of Electronic Publication: 2022 Jun 06.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE