Search Results - "Mosca-Boidron AL"

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Authors: Jensen M Smolen C Tyryshkina A et al.

Source: Cell [Cell] 2025 Dec 11; Vol. 188 (25), pp. 7065-7082.e17. Date of Electronic Publication: 2025 Oct 07.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Authors: Viora-Dupont E Delanne J Garde A et al.

Source: Molecular autism [Mol Autism] 2025 Oct 30; Vol. 16 (1), pp. 54. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE

A clinical and genotype-phenotype analysis of MACF1 variants.

Authors: Dekker J Schot R Aldinger KA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

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

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

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Authors: Tisserant E Vitobello A Callegarin D et al.

Source: Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 171-180. Date of Electronic Publication: 2022 Feb 09.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Authors: Jensen M Smolen C Tyryshkina A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Authors: Tran Mau-Them F Moutton S Racine C et al.

Source: Human genetics [Hum Genet] 2020 Nov; Vol. 139 (11), pp. 1381-1390. Date of Electronic Publication: 2020 May 12.

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

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Authors: Smolen C Jensen M Dyer L et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Dec 07; Vol. 110 (12), pp. 2015-2028. Date of Electronic Publication: 2023 Nov 17.

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

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

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Authors: Smolen C Jensen M Dyer L et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 May 26. Date of Electronic Publication: 2023 May 26.

Publication Type: Preprint; Journal Article

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

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Authors: Lefebvre M Beaufrere AM Francannet C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2509-2512. Date of Electronic Publication: 2018 Sep 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Authors: Wolfe K McQuillin A Alesi V et al.

Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2018 Jun; Vol. 177 (4), pp. 397-405. Date of Electronic Publication: 2018 Mar 31.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Authors: Carapito R Konantz M Paillard C et al.

Source: The Journal of clinical investigation [J Clin Invest] 2017 Nov 01; Vol. 127 (11), pp. 4090-4103. Date of Electronic Publication: 2017 Oct 03.

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

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] 2017 Oct 23; Vol. 2, pp. 32. Date of Electronic Publication: 2017 Oct 23 (Print Publication: 2017).

Publication Type: Journal Article

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

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Authors: Tran Mau-Them F Duffourd Y Vitobello A et al.

Corporate Authors: Tran Mau-Them F Duffourd Y Vitobello A et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1836. Date of Electronic Publication: 2021 Oct 30.

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

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

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Authors: Delanne J Bruel AL Huet F et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Oct 18; Vol. 29, pp. 100812. Date of Electronic Publication: 2021 Oct 18 (Print Publication: 2021).

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Authors: El Chehadeh S Touraine R Prieur F et al.

Source: Clinical genetics [Clin Genet] 2017 Apr; Vol. 91 (4), pp. 576-588. Date of Electronic Publication: 2017 Feb 16.

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

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Authors: Lefebvre M Sanlaville D Marle N et al.

Source: Clinical genetics [Clin Genet] 2016 May; Vol. 89 (5), pp. 630-5. Date of Electronic Publication: 2016 Jan 04.

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

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Authors: El Chehadeh S Faivre L Mosca-Boidron AL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jan; Vol. 170A (1), pp. 116-29. Date of Electronic Publication: 2015 Sep 30.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Authors: Juven A Nambot S Piton A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Aug; Vol. 28 (8), pp. 1044-1055. Date of Electronic Publication: 2020 Feb 18.

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

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

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Authors: Thevenon J Monnier N Callier P et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Dec; Vol. 164A (12), pp. 3027-34. Date of Electronic Publication: 2014 Sep 24.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE