Search Results - "Stark Z"

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Authors: Downie L Caruana J Kugenthiran N et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2026 Feb 14; Vol. 11 (1). Date of Electronic Publication: 2026 Feb 14.

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

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.

Authors: Venner, Eric Patterson, Karynne Kalra, Divya et al.

Source: Communications Biology. 6/11/2024, Vol. 7 Issue 1, p1-11. 11p.

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Authors: Welland MJ Ahlquist KD De Fazio P et al.

Source: Nature medicine [Nat Med] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

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

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Authors: Byrne AB Li AS Chung EYM et al.

Corporate Authors: Byrne AB Li AS Chung EYM et al.

Source: Nature reviews. Nephrology [Nat Rev Nephrol] 2026 May 21. Date of Electronic Publication: 2026 May 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-507X (Electronic) Linking ISSN: 17595061 NLM ISO Abbreviation: Nat Rev Nephrol Subsets: MEDLINE

Mainstreaming genomic testing for mitochondrial disease in Australia.

Authors: Ball M Baker N Lim SC et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 658-666. Date of Electronic Publication: 2026 Feb 26.

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

Author Index.

Source: Nephrology. Nov2020 Supplement S3, Vol. 25, p83-88. 6p.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Authors: Kaschta, Daniel Post, Christina Gaass, Franziska et al.

Source: Genome Medicine. 9/18/2025, Vol. 17 Issue 1, p1-15. 15p.

How parents decide whether to have genomic newborn screening: experiences from BabyScreen.

Authors: Kanga-Parabia A Tutty E Kugenthiran N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 26. Date of Electronic Publication: 2026 Jun 26.

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

Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

Authors: Brown GL Walker L Afolabi MA et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 08. Date of Electronic Publication: 2026 May 08.

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

Understanding the experience of adults with dyslexia: a quantitative and qualitative analysis.

Authors: Stark Z Johnson AP

Source: Annals of dyslexia [Ann Dyslexia] 2026 Apr; Vol. 76 (1), pp. 67-93. Date of Electronic Publication: 2025 Jul 23.

Publication Type: Journal Article

Journal Info: Publisher: International Dyslexia Association Country of Publication: United States NLM ID: 8406611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1934-7243 (Electronic) Linking ISSN: 07369387 NLM ISO Abbreviation: Ann Dyslexia Subsets: MEDLINE

Genomic Testing in Australia: A Budget Impact Analysis Using Diffusion Modeling From a Healthcare System Perspective.

Authors: Mordaunt DA Stark Z Elshaug AG et al.

Source: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research [Value Health] 2026 Mar; Vol. 29 (3), pp. 375-382. Date of Electronic Publication: 2025 Oct 15.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100883818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4733 (Electronic) Linking ISSN: 10983015 NLM ISO Abbreviation: Value Health Subsets: MEDLINE

Research Trends and Emerging Frontiers in Racehorse Genetics: A Bibliometric Analysis.

Authors: Huang, Qiuping Yao, Xinkui Yang, Xue et al.

Source: Animals (2076-2615). Jun2026, Vol. 16 Issue 11, p1705. 19p.

Analysis and influence mapping of socio-technical challenges for developing decarbonization and circular economy practices in the construction and building industry.

Authors: Gembali, Vidyasagar Kumar, Aalok Sarma, P. R. S.

Source: Annals of Operations Research; Apr2026, Vol. 359 Issue 2, p1975-2013, 39p

Genomics workforce views on automating genomic reanalysis: trust, equity and governance.

Authors: King EA Lynch F Stark Z et al.

Source: Human genetics [Hum Genet] 2026 Mar 05; Vol. 145 (1). Date of Electronic Publication: 2026 Mar 05.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE; In Process

Author Index.

Source: Nephrology. Aug2021 Supplement S2, Vol. 26, p61-64. 4p.

Automating genomic reanalysis: perspectives of people living with, or impacted by, a genetic, rare or undiagnosed condition.

Authors: Lynch F King E Nona S et al.

Source: BMC medical ethics [BMC Med Ethics] 2026 May 28. Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

Impact of a digital platform on genetic counselling encounters in the screening context.

Authors: Mighton C Jan A Lee L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 715-722. Date of Electronic Publication: 2026 Feb 13.

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

Childhood motor speech disorders: who to prioritise for genetic testing.

Authors: Van Niel H Lauretta M Baker E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 639-648. Date of Electronic Publication: 2026 Jan 13.

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

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.

Authors: Tutty E Kanga-Parabia A Kugenthiran N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb 24. Date of Electronic Publication: 2026 Feb 24.

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