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239 results

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Page 1
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.
Boggs K, Lynch F, Ward M, Bouffler SE, Ayres S, Forbes R, Springer A, de Silva MG, Lynch E, Gallacher L, Davis T, Rakonjac A, Stallard K, Brett GR, Stark Z. Boggs K, et al. Among authors: stark z. Genet Med Open. 2024 Jul 23;2(Suppl 2):101878. doi: 10.1016/j.gimo.2024.101878. eCollection 2024. Genet Med Open. 2024. PMID: 39712956 Free PMC article.
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: stark z. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R, Brown JS, Casauria S, Madelli EO, Mattiske T, Boughtwood T, Metke A, Davis A, Horton AE, Winlaw D, Das D, Soka M, Giannoulatou E, Rath EM, Haan E, Blue GM, Vohra J, Atherton JJ, van Spaendonck-Zwarts K, Cox K, Burnett L, Wallis M, Haas M, Quinn MCJ, Pachter N, Poplawski NK, Stark Z, Bagnall RD, Weintraub RG, Pantaleo SJ, Lunke S, De Fazio P, Thompson T, James P, Chang Y, Fatkin D, Macciocca I, Ingles J, Dunwoodie SL, Semsarian C, McGaughran J; Australian Genomics Cardiovascular Disorders Flagship. Austin R, et al. Among authors: stark z. Genet Med Open. 2024 Mar 25;2:101842. doi: 10.1016/j.gimo.2024.101842. eCollection 2024. Genet Med Open. 2024. PMID: 39669597 Free PMC article.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns B, Burns NJ, Chandrasekhar A, Chawla A, Chong J, Chopra M, Clause A, DiStefano M, DiTroia S, Elnagheeb M, Girod A, Goel H, Golden-Grant K, Ha T, Hamosh A, Huang J, Hughes M, Jamuar S, Kam S, Kesari A, Koh AL, Lassiter R, Leigh S, Lemire G, Lim JY, Malhotra A, McCurry H, Milewski B, Moosa S, Murray S, Owens E, Palmer E, Palus B, Patel M, Rajkumar R, Ratliff J, Raymond FL, Assis BDRR, Sajan S, Schlachetzki Z, Schmidt S, Stark Z, Strom S, Taylor J, Thaxton C, Thrush D, Toro S, Tshering K, Vasilevsky N, Wayburn B, Webb R, O'Donnell-Luria A, Coffey AJ. Broeren E, et al. Among authors: stark z. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.
Martyn M, Lee L, Jan A, Tytherleigh R, Lynch F, Mighton C, Bouffler SE, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Delatycki MB, Downie L, Vears D, Best S, Clausen M, Bombard Y, Stark Z, Gaff C. Martyn M, et al. Among authors: stark z. Genet Med. 2024 Nov 14;27(2):101327. doi: 10.1016/j.gim.2024.101327. Online ahead of print. Genet Med. 2024. PMID: 39548854 Free article.
Microcosting genomics: Challenges and opportunities.
Santos Gonzalez F, Ungar WJ, Buchanan J, Christodoulou J, Stark Z, Goranitis I. Santos Gonzalez F, et al. Among authors: stark z. Genet Med. 2024 Nov 7;27(2):101310. doi: 10.1016/j.gim.2024.101310. Online ahead of print. Genet Med. 2024. PMID: 39522058 No abstract available.
239 results