Search Results - "Singer, Emma S."

Sudden Cardiac Death in the Young.

Authors: Bagnall, Richard D. Singer, Emma S. Tfelt-Hansen, Jacob

Source: Heart, Lung & Circulation. Apr2020, Vol. 29 Issue 4, p498-504. 7p.

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

Authors: Stafford, Fergus Krishnan, Neesha Richardson, Ebony et al.

Source: Genome Medicine. 12/28/2022, Vol. 14 Issue 1, p1-14. 14p.

Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families.

Authors: Isbister, Julia C. Nowak, Natalie Yeates, Laura et al.

Source: Journal of the American College of Cardiology (JACC). Nov2022, Vol. 80 Issue 22, p2057-2068. 12p.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Authors: Singer ES Smith J Lin R et al.

Source: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2026 Feb 16; Vol. 13, pp. 1766067. Date of Electronic Publication: 2026 Feb 16 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Authors: Chang Y Rath EM Soka M et al.

Corporate Authors: Chang Y Rath EM Soka M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101626. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).

Authors: Isbister JC Strocchi M Riedy M et al.

Source: Heart rhythm [Heart Rhythm] 2025 Nov; Vol. 22 (11), pp. 2906-2916. Date of Electronic Publication: 2024 Dec 14.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Authors: Singer ES Crowe J Holliday M et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2023 Oct 11; Vol. 8 (1), pp. 29. Date of Electronic Publication: 2023 Oct 11.

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: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

Authors: Hespe S Singer ES Reuter C et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2025 Jun; Vol. 18 (3), pp. e004976. Date of Electronic Publication: 2025 Apr 21.

Publication Type: Letter

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE; In Process

Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.

Authors: Ranpura GN Holliday M Li S et al.

Source: Stem cell research [Stem Cell Res] 2025 Mar; Vol. 83, pp. 103650. Date of Electronic Publication: 2024 Dec 31.

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

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.

Authors: Li S Fraser S Ranpura G et al.

Source: Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103153. Date of Electronic Publication: 2023 Jun 23.

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

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Splicing Functional Assays Into the Genetic Testing Pipeline.

Authors: Singer ES Bagnall RD

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2022 Dec; Vol. 15 (6), pp. e003949. Date of Electronic Publication: 2022 Nov 09.

Publication Type: Editorial; Comment

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Genetic Basis of Childhood Cardiomyopathy.

Authors: Bagnall RD Singer ES Wacker J et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2022 Dec; Vol. 15 (6), pp. e003686. Date of Electronic Publication: 2022 Oct 11.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

Authors: Holliday M Singer ES Ross SB et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2021 Apr; Vol. 14 (2), pp. e003202. Date of Electronic Publication: 2021 Mar 03.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Authors: Singer ES Ross SB Skinner JR et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 86-93. Date of Electronic Publication: 2020 Sep 25.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Genetic architecture of left ventricular noncompaction in adults.

Authors: Ross SB Singer ES Driscoll E et al.

Source: Human genome variation [Hum Genome Var] 2020 Oct 15; Vol. 7, pp. 33. Date of Electronic Publication: 2020 Oct 15 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: eCollection Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var Subsets: PubMed not MEDLINE

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.

Authors: Singer ES Ingles J Semsarian C et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Jan; Vol. 12 (1), pp. e002368.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE