Search Results - "Early Check Program"

Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program.

Authors: Gwaltney AY Halpin SN Scott S et al.

Source: Frontiers in genetics [Front Genet] 2025 Dec 03; Vol. 16, pp. 1704364. Date of Electronic Publication: 2025 Dec 03 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not 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

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.

Authors: Gaddis NC Kucera KS Cope HL et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 692-701. Date of Electronic Publication: 2026 Mar 05.

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

Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study.

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

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 23. Date of Electronic Publication: 2026 Jul 23.

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

Perspectives on genomic newborn screening studies: design, implementation, and outcomes.

Authors: Duz MB Chung WK

Source: Pediatric research [Pediatr Res] 2026 Jul 13. Date of Electronic Publication: 2026 Jul 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

Parental and public views on genomic newborn screening: a systematic review.

Authors: Sweetland R Ulph F

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 04. Date of Electronic Publication: 2026 Jul 04.

Publication Type: Journal Article; 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

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

Authors: Tassone, Flora Protic, Dragana Allen, Emily Graves et al.

Source: Cells (2073-4409). Sep2023, Vol. 12 Issue 18, p2330. 69p.

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays.

Authors: Dantonio P Tavakoli NP Migliore B et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2023 Feb 28; Vol. 9 (1). Date of Electronic Publication: 2023 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Early Identification of Fragile X Syndrome through Expanded Newborn Screening.

Authors: Okoniewski, Katherine C. Wheeler, Anne C. Lee, Stacey et al.

Source: Brain Sciences (2076-3425). Jan2019, Vol. 9 Issue 1, p4-1. 1p.

Sequencing newborns' genes could save lives

Authors: Mark Johnson

Source: Washington Post, The. 07/01/2024.

Fragile X Syndrome and Premutation Disorders : New Developments and Treatments

Authors: Randi J Hagerman Paul J Hagerman

Resource Type: eBook.

Subjects: Autism

Categories: MEDICAL / General, MEDICAL / Allied Health Services / Occupational Therapy, MEDICAL / Clinical Medicine, MEDICAL / Neurology, MEDICAL / Pediatrics, MEDICAL / Psychiatry / Child & Adolescent, PSYCHOLOGY / Psychopathology / Autism Spectrum Disorders, PSYCHOLOGY / Cognitive Neuroscience & Cognitive Neuropsychology

The Krabbe Conundrum Is Really a Newborn Screening Conundrum.

Authors: Tarini BA Atkins AE

Source: JAMA pediatrics [JAMA Pediatr] 2023 Oct 01; Vol. 177 (10), pp. 1007-1008.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE; In Process

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

Authors: Parisi MA Caggana M Cohen JL et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Mar; Vol. 193 (1), pp. 44-55. Date of Electronic Publication: 2023 Mar 06.

Publication Type: Review; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE