Search Results - "Buratti J"

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

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Authors: Tabet AC Rolland T Ducloy M et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2019 Jul 01; Vol. 4, pp. 16. Date of Electronic Publication: 2019 Jul 01 (Print Publication: 2019).

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med 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

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Authors: Jin SC Lewis SA Bakhtiari S et al.

Source: Nature genetics [Nat Genet] 2021 Mar; Vol. 53 (3), pp. 412.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Authors: Marti S Pellet P Beaupain B et al.

Source: HemaSphere [Hemasphere] 2025 Jun 11; Vol. 9 (6), pp. e70150. Date of Electronic Publication: 2025 Jun 11 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not 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

Genomic Profiling of Adults with Pharmacoresistant Genetic Generalized Epilepsy.

Authors: Kidder, Benjamin L. Xu, Jian Geng, Rui et al.

Source: Brain Sciences (2076-3425). May2026, Vol. 16 Issue 5, p521. 15p.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Authors: Bou-Rouphael J Cospain A Courtin T et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2605-2624. Date of Electronic Publication: 2025 Sep 22.

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

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

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Authors: Pantea, Cristina-Loredana Bataneant, Mihaela Zimbru, Cristian G. et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 4, p1735. 16p.

Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.

Authors: Nakousi C., Nicole Nakousi M., Catalina Perez C., Gabriela et al.

Source: Case Reports in Genetics. 10/27/2025, Vol. 2025, p1-6. 6p.

Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review.

Authors: De Falco, Domenico Di Stasio, Dario Lauritano, Dorina et al.

Source: Applied Sciences (2076-3417); Feb2025, Vol. 15 Issue 4, p2195, 18p

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: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Sep 04. Date of Electronic Publication: 2025 Sep 04.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Dimer‐Specific FokT‐seq Reveals DNA‐Binding Dimerization and Novel Genomic Targets of TDP‐43.

Authors: Yang, Mingming Wang, Qi Yan, Ruolan et al.

Source: Advanced Science. 11/13/2025, Vol. 12 Issue 42, p1-12. 12p.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Authors: Nava C Cogne B Santini A et al.

Source: Nature genetics [Nat Genet] 2025 Jun; Vol. 57 (6), pp. 1374-1388. Date of Electronic Publication: 2025 May 16.

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

A Developmental Neuroimmune Cascade Model of Autism Spectrum Disorder.

Authors: Leisman, Gerry Melillo, Robert Alfasi, Rahela

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 12, p5185. 44p.

Exploratory Machine Learning Analysis of circRNA-Derived Molecular Features in Autism Spectrum Disorder.

Authors: Sharda, Raunak Kouznetsova, Valentina L. Tsigelny, Igor F.

Source: Non-Coding RNA. Jun2026, Vol. 12 Issue 3, p17. 18p.

Axion-scalar systems and dynamical distances.

Authors: Grimm, Thomas W. van de Heisteeg, Damian Revello, Filippo

Source: Journal of High Energy Physics. Jun2026, Vol. 2026 Issue 6, p1-65. 65p.

EFT strings and dualities in 4d 풩 = 1.

Authors: Grieco, Alessandra Ruiz, Ignacio Valenzuela, Irene

Source: Journal of High Energy Physics. Jun2026, Vol. 2026 Issue 6, p1-87. 87p.

Management Strategies for Reducing Pesticide Use in the Control of Oat Foliar Diseases: an Analysis of Agronomic Indicators and the Industrial and Chemical Quality of Grains.

Alternate Title: Estrategias de Manejo para Reducir el Uso de Plaguicidas en el Control de Enfermedades Foliares de la Avena: un Análisis de Indicadores Agronómicos y de la Calidad Industrial y Química de los Granos.
Estratégias de Manejo para Reduzir o uso de Pesticidas no Controle de Doenças Foliares da Aveia: uma Análise de Indicadores Agronômicos e da Qualidade Industrial e Química dos Grãos.

Authors: Alessi, Odenis da Silva, Jose Antonio Gonzalez Carvalho, Ivan Ricardo et al.

Source: GeSec: Revista de Gestao e Secretariado. 2026, Vol. 17 Issue 5, p1-25. 25p.

Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.

Authors: Sabahizadeh, Amirreza Askarinejad, Amir AliAkbar, Saranaz Seyed et al.

Source: BMC Medical Genomics. 3/7/2025, Vol. 18 Issue 1, p1-7. 7p.