Search Results - "Buratti J"

16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy.

Authors: Metay, C. Ghanem, R. Toutain, A. et al.

Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

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

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

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

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

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

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Authors: de Sainte Agathe JM Filser M Isidor B et al.

Source: Human genomics [Hum Genomics] 2023 Feb 10; Vol. 17 (1), pp. 7. Date of Electronic Publication: 2023 Feb 10.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Authors: Leitão E Schröder C Parenti I et al.

Source: Nature communications [Nat Commun] 2022 Nov 02; Vol. 13 (1), pp. 6570. Date of Electronic Publication: 2022 Nov 02.

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

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Authors: Dahawi M de Sainte Agathe JM Elmagzoub MS et al.

Source: Human genomics [Hum Genomics] 2024 Nov 21; Vol. 18 (1), pp. 130. Date of Electronic Publication: 2024 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Authors: Christensen MB Levy AM Mohammadi NA et al.

Source: Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 98-109. Date of Electronic Publication: 2022 Jun 08.

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

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Authors: Viora-Dupont E Robert F Chassagne A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1166-1183. Date of Electronic Publication: 2024 May 27.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.

Authors: Dahawi M Elmagzoub MS A Ahmed E et al.

Source: Frontiers in neurology [Front Neurol] 2021 Oct 21; Vol. 12, pp. 738272. Date of Electronic Publication: 2021 Oct 21 (Print Publication: 2021).

Publication Type: Journal Article

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

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Authors: Saint-Martin C Cauchois-Le Mière M Rex E et al.

Source: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 408-420. Date of Electronic Publication: 2021 Jan 28.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

Authors: de Sainte Agathe JM Mercier S Mahé JY et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Mar; Vol. 36 (3), pp. 771-774. Date of Electronic Publication: 2020 Nov 09.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Loss of function of ADNP by an intragenic inversion.

Authors: Georget M Lejeune E Buratti J et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 967-970. Date of Electronic Publication: 2023 Feb 24.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Authors: Larcher L Buratti J Héron-Longe B et al.

Source: Clinical genetics [Clin Genet] 2020 Apr; Vol. 97 (4), pp. 639-643. Date of Electronic Publication: 2020 Jan 07.

Publication Type: Journal Article

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

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Authors: Corbett MA Kroes T Veneziano L et al.

Source: Nature communications [Nat Commun] 2019 Oct 29; Vol. 10 (1), pp. 4920. Date of Electronic Publication: 2019 Oct 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

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Authors: Florian RT Kraft F Leitão E et al.

Corporate Authors: Florian RT Kraft F Leitão E et al.

Source: Nature communications [Nat Commun] 2019 Oct 29; Vol. 10 (1), pp. 4919. Date of Electronic Publication: 2019 Oct 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

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Authors: Papadopoulos C Malfatti E Métay C et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jul 06; Vol. 24 (13). Date of Electronic Publication: 2023 Jul 06.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE