Search Results - "Callaghan DB"

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Authors: Yoon, Jihoon G. Jang, Hyunsoo Lee, Seungbok et al.

Source: Genome Medicine. 8/6/2025, Vol. 17 Issue 1, p1-20. 20p.

Mercury and methylmercury concentration in the feathers of two species of Kingfishers Megaceryle torquata and Chloroceryle amazona in the Upper Paraguay Basin and Amazon Basin.

Authors: Hurtado, Thaysa Costa de Medeiros Costa, Gerlane de Carvalho, Giovani Spínola et al.

Source: Ecotoxicology. Oct2023, Vol. 32 Issue 8, p1084-1095. 12p.

Genetic analysis of DAF-18/PTEN missense mutants for the ability to maintain quiescence of the somatic gonad and germ line in Caenorhabditis elegans dauer larvae.

Authors: Wittes, Julia Greenwald, Iva

Source: G3: Genes | Genomes | Genetics. Jun2022, Vol. 12 Issue 6, p1-9. 9p.

The influence of migration patterns on exposure to contaminants in Nearctic shorebirds: a historical study.

Authors: Pratte, Isabeau Noble, David G. Mallory, Mark L. et al.

Source: Environmental Monitoring & Assessment. Apr2020, Vol. 192 Issue 4, p1-25. 25p.

Non-invasive biomonitoring of mercury in birds near thermal power plants: lessons from Maharashtra, India.

Authors: Thakur, Sunidhi Dhyani, Shalini Bramhanwade, Kavita et al.

Source: Environmental Monitoring & Assessment. Apr2020, Vol. 192 Issue 4, p1-14. 14p.

Retrospective biomonitoring of mercury and other elements in museum feathers of common kestrel Falco tinnunculus using instrumental neutron activation analysis (INAA).

Authors: Movalli, Paola Dekker, René Mije, Steven et al.

Source: Environmental Science & Pollution Research. Nov2017, Vol. 24 Issue 33, p25986-26005. 20p.

Trace Element Concentrations in Relation to the Trophic Behaviour of Endangered Ivory Gulls ( Pagophila eburnea) During Their Stay at a Breeding Site in Svalbard.

Authors: Lucia, Magali Strøm, Hallvard Bustamante, Paco et al.

Source: Archives of Environmental Contamination & Toxicology. Nov2016, Vol. 71 Issue 4, p518-529. 12p.

Research progress in SYNGAP1-related neurodevelopmental disorders: from pathogenesis to therapeutic strategies.

Authors: Zhang J Xue G Wang X et al.

Source: Frontiers in neurology [Front Neurol] 2026 Feb 12; Vol. 17, pp. 1773363. Date of Electronic Publication: 2026 Feb 12 (Print Publication: 2026).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Authors: Post KL Belmadani M Ganguly P et al.

Source: Nature communications [Nat Commun] 2020 Apr 29; Vol. 11 (1), pp. 2073. Date of Electronic Publication: 2020 Apr 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

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.

Authors: Callaghan DB Rogic S Tan PPC et al.

Source: Clinical genetics [Clin Genet] 2019 Sep; Vol. 96 (3), pp. 199-206. Date of Electronic Publication: 2019 May 30.

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

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.

Authors: Khlaifia A Jadhav V Danik M et al.

Source: ENeuro [eNeuro] 2023 May 05; Vol. 10 (5). Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).

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

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 101647362 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2822 (Electronic) Linking ISSN: 23732822 NLM ISO Abbreviation: eNeuro Subsets: MEDLINE

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Authors: Jacobs EZ Brown K Byler MC et al.

Source: Clinical genetics [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 259-268. Date of Electronic Publication: 2020 Nov 23.

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

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

Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions.

Authors: Gao Y Shonai D Trn M et al.

Source: Nature communications [Nat Commun] 2024 Aug 09; Vol. 15 (1), pp. 6801. Date of Electronic Publication: 2024 Aug 09.

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

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