Search Results - "Innes AM"

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors: Blok LS Rousseau J Twist J et al.

Corporate Authors: Blok LS Rousseau J Twist J et al.

Source: Nature communications [Nat Commun] 2019 Feb 15; Vol. 10 (1), pp. 883. Date of Electronic Publication: 2019 Feb 15.

Publication Type: Journal Article; Published Erratum

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: PubMed not MEDLINE

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors: Snijders Blok L Rousseau J Twist J et al.

Corporate Authors: Snijders Blok L Rousseau J Twist J et al.

Source: Nature communications [Nat Commun] 2019 May 02; Vol. 10 (1), pp. 2079. Date of Electronic Publication: 2019 May 02.

Publication Type: Published Erratum

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: PubMed not MEDLINE

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

Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' reply.

Authors: Pfeffer G Innes AM Shutt TE

Source: EBioMedicine [EBioMedicine] 2019 Nov; Vol. 49, pp. 25. Date of Electronic Publication: 2019 Oct 17.

Publication Type: Journal Article; Comment

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Prion propagation is controlled by a hierarchical network involving the nuclear Tfap2c and hnRNP K factors and the cytosolic mTORC1 complex.

Authors: Sellitto, Stefano Caredio, Davide Bimbati, Matteo et al.

Source: PLoS Pathogens. 4/20/2026, Vol. 22 Issue 4, p1-30. 30p.

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Lipodystrophy: an uncommon cause of insulin resistance and young-onset diabetes.

Authors: Chaturvedi, Richa Pradhan, Aprajita Kachroo, Varsha et al.

Source: JCEM Case Reports. Apr2026, Vol. 4 Issue 4, p1-6. 6p.

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

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

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Authors: Liu, Rou Kretschmer, Stefanie Switala, Paulina et al.

Source: Pediatric Rheumatology. 11/5/2025, Vol. 23 Issue 1, p1-5. 5p.

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

Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.

Authors: Plonsky Toder, Moran Pollack, Shirley Tibi, Rami et al.

Source: Pediatric Nephrology. Oct2025, Vol. 40 Issue 10, p3093-3099. 7p.

Peroxisome-derived ether lipids regulate lysosomal exocytosis.

Authors: Chen L Henn D Dong Z et al.

Source: The EMBO journal [EMBO J] 2026 Jun; Vol. 45 (11), pp. 3699-3730. Date of Electronic Publication: 2026 May 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

Autophagy-related protein Atg11 is essential for microtubule-mediated chromosome segregation.

Authors: Reza, Md. Hashim Aggarwal, Rashi Verma, Jigyasa et al.

Source: PLoS Biology. 4/2/2025, Vol. 23 Issue 4, p1-38. 38p.

Mainstreaming of clinical genetic testing: A conceptual framework.

Authors: Mackley MP Richer J Guerin A et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Aug; Vol. 27 (8), pp. 101465. Date of Electronic Publication: 2025 May 22.

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

Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review.

Authors: Wei, Liqiang He, Yu Liu, Denghe et al.

Source: Molecular Cytogenetics (17558166). 11/3/2025, Vol. 18 Issue 1, p1-7. 7p.

Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.

Authors: Korakas, Emmanouil Kountouri, Aikaterini Ikonomidis, Ignatios et al.

Source: JCEM Case Reports. Nov2025, Vol. 3 Issue 11, p1-4. 4p.

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Authors: Stark, Jamie C. Pipko, Neta Liang, Yijing et al.

Source: Genome Medicine. 7/1/2025, Vol. 17 Issue 1, p1-24. 24p.

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Authors: Haque, Bushra Cheerie, David Pan, Amy et al.

Source: PLoS Genetics. 1/6/2025, Vol. 21 Issue 1, p1-21. 21p.