Search Results - "Innes AM"

Genetic landmarks through philately: Woodrow Wilson ‘Woody’ Guthrie and Huntington disease.

Authors: Innes, AM Chudley, AE

Source: Clinical Genetics. Apr2002, Vol. 61 Issue 4, p263-267. 5p.

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype.

Authors: Innes, Am Chudley, Ae Carson, Nl et al.

Source: Clinical Genetics. Sep99, Vol. 56 Issue 3, p238-241. 4p.

A question of human rights

Authors: Graeme Innes - Graeme Innes, AM, is the Australian Human Rights Commissioner

Source: Age, The (Melbourne). 04/17/2008.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Authors: Ramantani G Kohlhase J Hertzberg C et al.

Source: Arthritis & Rheumatism. May2010, Vol. 62 Issue 5, p1469-1477. 9p.

Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.

Authors: Ng AC D'Alfonso S Innes AM et al.

Source: Journal of child neurology [J Child Neurol] 2026 Apr; Vol. 41 (4), pp. 574-580. Date of Electronic Publication: 2025 Sep 24.

Publication Type: Journal Article; Case Reports

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

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Authors: Mirzaa GM Yan K Relator R et al.

Source: Nature communications [Nat Commun] 2025 Nov 10; Vol. 16 (1), pp. 9875. Date of Electronic Publication: 2025 Nov 10.

Publication Type: Journal Article

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

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Authors: Hua M Aghanoori MR MacPherson MJ et al.

Source: The Journal of clinical investigation [J Clin Invest] 2026 Jun 11; Vol. 136 (14). Date of Electronic Publication: 2026 Jun 11 (Print Publication: 2026).

Publication Type: Journal Article

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

Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York.

Authors: Crocker K O'Toole J Pearse L et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1435-1441. Date of Electronic Publication: 2026 Feb 19.

Publication Type: Conference Proceedings

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

Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.

Authors: Mademont-Soler I Camós-Carreras M Garde A et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2026 May 25. Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Authors: Gillesse EH Wan M Ashtiani S et al.

Corporate Authors: Gillesse EH Wan M Ashtiani S et al.

Source: Neurogenetics [Neurogenetics] 2026 Feb 09; Vol. 27 (1), pp. 12. Date of Electronic Publication: 2026 Feb 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Authors: Quinodoz M Rutz S Peter V et al.

Source: The EMBO journal [EMBO J] 2025 Jan; Vol. 44 (2), pp. 413-436. Date of Electronic Publication: 2024 Dec 02.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Authors: Margot H Pizano A Amestoy A et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32087. Date of Electronic Publication: 2024 Apr 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Brain malformations and seizures by impaired chaperonin function of TRiC.

Authors: Kraft F Rodriguez-Aliaga P Yuan W et al.

Source: Science (New York, N.Y.) [Science] 2024 Nov; Vol. 386 (6721), pp. 516-525. Date of Electronic Publication: 2024 Oct 31.

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

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Authors: Gillesse E Wade A Parboosingh JS et al.

Corporate Authors: Gillesse E Wade A Parboosingh JS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63789. Date of Electronic Publication: 2024 Jun 25.

Publication Type: Case Reports; Journal Article

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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Authors: Maroni MJ Barton M Lynch K et al.

Source: Brain : a journal of neurology [Brain] 2026 Jan 08; Vol. 149 (1), pp. 343-359.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

45th Annual David Smith Workshop on Malformations and Morphogenesis.

Authors: Elliott AM Innes AM

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64194. Date of Electronic Publication: 2025 Jul 30.

Publication Type: Conference Proceedings; Journal Article

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

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Authors: Harel T Spicher C Scheer E et al.

Source: Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2732-2744.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.

Authors: Wang Y Sams EI Slaugh R et al.

Corporate Authors: Wang Y Sams EI Slaugh R et al.

Source: Genome medicine [Genome Med] 2025 Oct 24; Vol. 17 (1), pp. 129. Date of Electronic Publication: 2025 Oct 24.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Authors: Strong A McKenna C Stals K et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64119. Date of Electronic Publication: 2025 May 26.

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

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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Authors: Choufani S McNiven V Cytrynbaum C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Aug 07; Vol. 112 (8), pp. 1979.

Publication Type: Published Erratum

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE