Search Results - "Gleeson JG"

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

Authors: Zaki MS Saleem SN Dobyns WB et al.

Source: Brain: A Journal of Neurology; Aug2012, Vol. 135 Issue 8, p2416-2427, 12p

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

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Authors: De Jonghe J Kim HC Adedeji A et al.

Source: Nature [Nature] 2026 Jun; Vol. 654 (8118), pp. 429-436. Date of Electronic Publication: 2026 Apr 08.

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

Developmental organization of sensory and sympathetic ganglia.

Authors: Vong KI Alvarez YD Zhang Q et al.

Source: Nature [Nature] 2026 Jun; Vol. 654 (8119), pp. 734-743. Date of Electronic Publication: 2026 Apr 01.

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

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Authors: Galassi Deforie V Maroofian R Karagoz I et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102551. Date of Electronic Publication: 2026 Mar 17.

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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Authors: Leitão E Santini A Cogne B et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 782-797. Date of Electronic Publication: 2026 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Disease insights from brain somatic mosaicism.

Authors: Chung C Nedunuri R Gleeson JG

Source: Experimental & molecular medicine [Exp Mol Med] 2026 Apr; Vol. 58 (4), pp. 953-960. Date of Electronic Publication: 2026 Apr 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-6413 (Electronic) Linking ISSN: 12263613 NLM ISO Abbreviation: Exp Mol Med Subsets: MEDLINE

De novo mutations and environmental modifiers: lessons from neural tube defects.

Authors: Li HY Shen Y Vong KI et al.

Source: Trends in genetics : TIG [Trends Genet] 2026 Apr; Vol. 42 (4), pp. 339-349. Date of Electronic Publication: 2026 Mar 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Trends Journals Country of Publication: England NLM ID: 8507085 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0168-9525 (Print) Linking ISSN: 01689525 NLM ISO Abbreviation: Trends Genet Subsets: MEDLINE

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Authors: Aughey GN Cali E Maroofian R et al.

Source: Brain : a journal of neurology [Brain] 2025 Apr 03; Vol. 148 (4), pp. 1194-1211.

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

When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.

Authors: Nakamura Y Nguyen T Mor N et al.

Source: Trends in genetics : TIG [Trends Genet] 2026 Mar 31. Date of Electronic Publication: 2026 Mar 31.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Trends Journals Country of Publication: England NLM ID: 8507085 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0168-9525 (Print) Linking ISSN: 01689525 NLM ISO Abbreviation: Trends Genet Subsets: MEDLINE

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Authors: Sharaf-Eldin W Ghorab RM Rafat K et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 Mar 11; Vol. 185 (4). Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Authors: Levine JM Calame DG Sangermano R et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 362-379. Date of Electronic Publication: 2026 Jan 15.

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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Authors: Morsy H Kim H Jang G et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 380-391. Date of Electronic Publication: 2026 Jan 21.

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

Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.

Authors: Garcia CAB Zubair M Santos MV et al.

Source: Genes [Genes (Basel)] 2025 Mar 31; Vol. 16 (4). Date of Electronic Publication: 2025 Mar 31.

Publication Type: 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

Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration.

Authors: Tang I Nisal A Reed A et al.

Source: Science translational medicine [Sci Transl Med] 2025 Jan; Vol. 17 (779), pp. eadp5247. Date of Electronic Publication: 2025 Jan 01.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.

Authors: Kim-McManus O Gleeson JG Mignon L et al.

Source: Nature communications [Nat Commun] 2024 Nov 12; Vol. 15 (1), pp. 9802. Date of Electronic Publication: 2024 Nov 12.

Publication Type: Journal Article; Review; 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

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Authors: Cogan G Zaki MS Issa M et al.

Source: Human genetics [Hum Genet] 2024 Nov; Vol. 143 (11), pp. 1353-1362. Date of Electronic Publication: 2024 Oct 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Authors: Sharaf-Eldin WE Rafat K Issa MY et al.

Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Oct 05; Vol. 74 (4), pp. 93. Date of Electronic Publication: 2024 Oct 05.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Authors: Cavusoglu D Ozturk G Turkdogan D et al.

Source: Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 1950-1965. Date of Electronic Publication: 2024 Apr 15.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.

Authors: Wang L Nakamura Y Li J et al.

Source: Cell stem cell [Cell Stem Cell] 2025 Dec 04; Vol. 32 (12), pp. 1923-1940.e7. Date of Electronic Publication: 2025 Nov 03.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101311472 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1875-9777 (Electronic) Linking ISSN: 18759777 NLM ISO Abbreviation: Cell Stem Cell Subsets: MEDLINE