Search Results - "Berg JS"

Plagl1 regulates the retinal progenitor cell to Müller glial cell transition.

Authors: Touahri, Yacine Pak, Alissa David, Luke Ajay et al.

Source: PLoS Genetics. 3/18/2026, Vol. 22 Issue 3, p1-34. 34p.

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.

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

Authors: Roman TS Gray SM Sneddon TP et al.

Source: HGG advances [HGG Adv] 2026 Jul 09; Vol. 7 (3), pp. 100605. Date of Electronic Publication: 2026 Apr 03.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Deciding "what" to screen for and "when": The importance of natural history information.

Authors: Jackson J Berg JS

Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 02; Vol. 113 (7), pp. 1372-1380. Date of Electronic Publication: 2026 Jun 23.

Publication Type: Journal Article; Review

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

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Authors: Cope HL Jalazo ER Berg JS et al.

Corporate Authors: Cope HL Jalazo ER Berg JS et al.

Source: Nature medicine [Nat Med] 2025 Nov; Vol. 31 (11), pp. 3762-3771. Date of Electronic Publication: 2025 Sep 05.

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

Index to Volume 11: Author.

Source: Wound Repair & Regeneration. Nov2003, Vol. 11 Issue 6, p510-512. 3p.

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

The impact of VUS reclassification on reproductive decision making.

Authors: Peyser, Alexandra Onel, Kenan Hershlag, Avner

Source: PLoS ONE. 5/27/2025, Vol. 20 Issue 5, p1-8. 8p.

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core.

Authors: Foss KS Sneddon TP Fensterle EP et al.

Source: Journal of clinical and translational science [J Clin Transl Sci] 2026 Feb 09; Vol. 10 (1), pp. e54. Date of Electronic Publication: 2026 Feb 09 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 101689953 Publication Model: eCollection Cited Medium: Internet ISSN: 2059-8661 (Electronic) Linking ISSN: 20598661 NLM ISO Abbreviation: J Clin Transl Sci Subsets: PubMed not MEDLINE

Whole exome sequencing reveals DNA repair gene variants in women exposed to chronic arsenic poisoning.

Authors: Agarwal, Radhika Kumar, Arun Pandey, Tejasvi et al.

Source: Discover Toxicology. 7/1/2026, Vol. 3 Issue 1, p1-16. 16p.

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3).

Authors: Level, Camille Faivre, Laurence Lemaitre, Margot et al.

Source: PLoS ONE. 6/15/2026, Vol. 21 Issue 6, p1-22. 22p.

Heterozygous variants in AP4S1 are not associated with a neurological phenotype.

Authors: Quiroz, Vicente Zubair, Umar Schierbaum, Luca et al.

Source: Annals of Clinical & Translational Neurology. Apr2025, Vol. 12 Issue 4, p851-854. 4p.

Are your kidneys ok? Detect early to protect kidney health.

Authors: Vassalotti, Joseph A. Francis, Anna Soares Dos Santos Jr, Augusto Cesar et al.

Source: Renal Failure. Dec2025, Vol. 47 Issue 1, p1-8. 8p.

Research trajectory of the mechanism of preeclampsia: a scientometric perspective.

Authors: Li, Shen Sun, Meiling Liu, Datong et al.

Source: Journal of Health, Population & Nutrition. 4/29/2025, Vol. 44 Issue 1, p1-24. 24p.

Are Your Kidneys Ok? Detect Early to Protect Kidney Health.

Authors: Vassalotti, Joseph A Francis, Anna Cesar Soares Dos Santos, Augusto et al.

Source: Turkish Journal of Nephrology. Apr2025, Vol. 34 Issue 2, p71-78. 8p.

Endovascular treatment for acute ischemic stroke in patients with versus without atrial fibrillation: a matched-control study.

Authors: Tong, Xu Li, Shijing Liu, Wei et al.

Source: BMC Neurology. 9/29/2021, Vol. 21 Issue 1, p1-8. 8p.

Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice.

Authors: Salunke J Byfield G Powell SN et al.

Source: Public health genomics [Public Health Genomics] 2025; Vol. 28 (1), pp. 66-84. Date of Electronic Publication: 2024 Dec 19.

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

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101474167 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1662-8063 (Electronic) Linking ISSN: 16624246 NLM ISO Abbreviation: Public Health Genomics Subsets: MEDLINE

North Carolina primary care provider perspectives on expanded genomic screening in children.

Authors: Branch EK Roberts MC Waltz M et al.

Source: BMC medical genomics [BMC Med Genomics] 2026 Jan 16; Vol. 19 (1), pp. 30. Date of Electronic Publication: 2026 Jan 16.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.

Authors: Downie L Yeo J Minten T et al.

Corporate Authors: Downie L Yeo J Minten T et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101618. Date of Electronic Publication: 2025 Oct 24.

Publication Type: Consensus Statement; 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

Reliability and validity of a newly developed Action Research Arm Test for upper limb function assessment in patients with stroke: A comparison with the conventional version.

Authors: Sakamoto, Daigo Hamaguchi, Toyohiro Nakayama, Yasuhide et al.

Source: PLoS ONE. 3/24/2026, Vol. 21 Issue 3, p1-18. 18p.