Search Results - "Steyaert W"

Wobble-based on-chip calibration circuit for temperature independent oscillators.

Authors: De Smedt, V. Steyaert, W. Dehaene, W. et al.

Source: Electronics Letters (Institution of Engineering & Technology). 8/2/2012, Vol. 48 Issue 16, p1000-1001. 2p. 2 Diagrams, 1 Graph.

Subjects: Electric oscillators, Timing circuits, Calibration, Temperature, Metal oxide semiconductors

23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy.

Authors: Mueller, J. Savarese, M. Lillback, V. et al.

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

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Authors: Ali, R.H. Shah, K. Nasir, A. et al.

Source: Clinical Genetics. Sep2016, Vol. 90 Issue 3, p263-269. 7p.

Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome.

Authors: De Rycke K Horvat M Caboor L et al.

Source: JACC. Basic to translational science [JACC Basic Transl Sci] 2026 May; Vol. 11 (5), pp. 101543. Date of Electronic Publication: 2026 Apr 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier on behalf of the American College of Cardiology Foundation Country of Publication: United States NLM ID: 101677259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2452-302X (Electronic) Linking ISSN: 2452302X NLM ISO Abbreviation: JACC Basic Transl Sci Subsets: PubMed not MEDLINE

Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.

Authors: Sommer AK Te Paske IBAW Jansen EAM et al.

Source: Gastroenterology [Gastroenterology] 2026 Mar; Vol. 170 (3), pp. 557-568. Date of Electronic Publication: 2026 Jan 12.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Authors: Yépez VA Demidov G Ellwanger K et al.

Corporate Authors: Yépez VA Demidov G Ellwanger K et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 231.

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; In Process

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Authors: Yépez VA Demidov G Ellwanger K et al.

Corporate Authors: Yépez VA Demidov G Ellwanger K et al.

Source: Nature genetics [Nat Genet] 2025 Oct; Vol. 57 (10), pp. 2361-2370. Date of Electronic Publication: 2025 Sep 09.

Publication Type: Journal Article; Review

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

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Authors: Laurie S Steyaert W de Boer E et al.

Corporate Authors: Laurie S Steyaert W de Boer E et al.

Source: Nature medicine [Nat Med] 2025 Aug; Vol. 31 (8), pp. 2819-2820.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; In Process

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Authors: Steyaert W Sagath L Demidov G et al.

Corporate Authors: Steyaert W Sagath L Demidov G et al.

Source: Genome research [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 755-768. Date of Electronic Publication: 2025 Apr 14.

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

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Authors: Laurie S Steyaert W de Boer E et al.

Corporate Authors: Laurie S Steyaert W de Boer E et al.

Source: Nature medicine [Nat Med] 2025 Feb; Vol. 31 (2), pp. 478-489. Date of Electronic Publication: 2025 Jan 17.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.

Authors: Van Tongerloo AJAG Verdin H Steyaert W et al.

Source: Journal of genetic counseling [J Genet Couns] 2025 Feb; Vol. 34 (1), pp. e1899. Date of Electronic Publication: 2024 Apr 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Authors: Vorsteveld EE Van der Made CI Smeekens SP et al.

Corporate Authors: Vorsteveld EE Van der Made CI Smeekens SP et al.

Source: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 100883537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-7035 (Electronic) Linking ISSN: 15216616 NLM ISO Abbreviation: Clin Immunol Subsets: MEDLINE

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.

Authors: Khazeeva G Sablauskas K van der Sanden B et al.

Source: Nucleic acids research [Nucleic Acids Res] 2022 Sep 23; Vol. 50 (17), pp. e97.

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

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

Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.

Authors: Meerschaut I Steyaert W Bové T et al.

Source: Genes [Genes (Basel)] 2022 Jul 07; Vol. 13 (7). Date of Electronic Publication: 2022 Jul 07.

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

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

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Authors: Schuermans N Hemelsoet D Terryn W et al.

Corporate Authors: Schuermans N Hemelsoet D Terryn W et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 23; Vol. 17 (1), pp. 210. Date of Electronic Publication: 2022 May 23.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Authors: Steyaert W Sagath L Demidov G et al.

Corporate Authors: Steyaert W Sagath L Demidov G et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 04. Date of Electronic Publication: 2024 May 04.

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

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Authors: Wijngaard R Demidov G O'Gorman L et al.

Corporate Authors: Wijngaard R Demidov G O'Gorman L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Feb; Vol. 32 (2), pp. 200-208. Date of Electronic Publication: 2023 Oct 19.

Publication Type: Journal Article

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

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Authors: Wijngaard R Demidov G O'Gorman L et al.

Corporate Authors: Wijngaard R Demidov G O'Gorman L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Feb; Vol. 32 (2), pp. 248.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.

Authors: Steyaert W Haer-Wigman L Pfundt R et al.

Source: Nature communications [Nat Commun] 2023 Oct 27; Vol. 14 (1), pp. 6845. Date of Electronic Publication: 2023 Oct 27.

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

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Authors: Meerschaut I Beyens A Steyaert W et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2494-2499. Date of Electronic Publication: 2019 Oct 09.

Publication Type: Case Reports; 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