Search Results - "Coursimault J"

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Authors: Ullah M Rehman AU Shetty M et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2026 Jan 01; Vol. 144 (1), pp. 70-78.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Authors: Rots D Jakub TE Keung C et al.

Corporate Authors: Rots D Jakub TE Keung C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2814. Date of Electronic Publication: 2025 Oct 18.

Publication Type: Published Erratum

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; In Process

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Authors: Michaud V Sequeira A Mercier E et al.

Source: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. Date of Electronic Publication: 2023 Aug 31.

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

Journal Info: Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: 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

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Authors: Coursimault J Cassinari K Lecoquierre F et al.

Source: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1882-1897. Date of Electronic Publication: 2022 Jul 23.

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

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Authors: Coursimault J Rovelet-Lecrux A Cassinari K et al.

Source: Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1239-1248. Date of Electronic Publication: 2022 May 17.

Publication Type: Case Reports; 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

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Authors: Coursimault J Guerrot AM Morrow MM et al.

Source: Human genetics [Hum Genet] 2022 Jan; Vol. 141 (1), pp. 65-80. Date of Electronic Publication: 2021 Nov 08.

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

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Authors: Cassinari K Rovelet-Lecrux A Derambure C et al.

Source: Genes & diseases [Genes Dis] 2024 Aug 06; Vol. 12 (3), pp. 101386. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V. on behalf of KeAi Communications Co. Ltd Country of Publication: Netherlands NLM ID: 101635967 Publication Model: eCollection Cited Medium: Internet ISSN: 2352-3042 (Electronic) Linking ISSN: 23523042 NLM ISO Abbreviation: Genes Dis Subsets: PubMed not MEDLINE

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Authors: Ruault V Burger P Gradels-Hauguel J et al.

Corporate Authors: Ruault V Burger P Gradels-Hauguel J et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

[KCNV2-associated cone dystrophy case report: Clinical and electrophysiological features].

Transliterated Title: Dystrophie des cônes associée à KCNV2, à propos d’un cas : particularités cliniques et électrophysiologiques.

Authors: Pasquier L Coursimault J Side W et al.

Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2023 Dec; Vol. 46 (10), pp. e374-e377. Date of Electronic Publication: 2023 Sep 01.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

Authors: Bouassida M Egloff M Levy J et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 895-904. Date of Electronic Publication: 2023 May 15.

Publication Type: Review; 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

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Authors: Lecoquierre F Brehin AC Coutant S et al.

Source: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 926-933. Date of Electronic Publication: 2020 Mar 01.

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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Authors: Rots D Jakub TE Keung C et al.

Corporate Authors: Rots D Jakub TE Keung C et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.

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

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

Authors: Coursimault J Goldenberg A Nicolas G et al.

Source: European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104556. Date of Electronic Publication: 2022 Jul 01.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

Authors: Coursimault J Lecoquierre F Saugier-Veber P et al.

Source: European journal of medical genetics [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104166. Date of Electronic Publication: 2021 Feb 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE