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Page 1
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Bick D, Ahmed A, Deen D, Ferlini A, Garnier N, Kasperaviciute D, Leblond M, Pichini A, Rendon A, Satija A, Tuff-Lacey A, Scott RH. Bick D, et al. Among authors: pichini a. Int J Neonatal Screen. 2022 Jul 15;8(3):40. doi: 10.3390/ijns8030040. Int J Neonatal Screen. 2022. PMID: 35892470 Free PMC article.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J. Blakes AJM, et al. Among authors: pichini a. Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x. Genome Med. 2022. PMID: 35883178 Free PMC article.