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Page 1
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: robinson p. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T. Forwood C, et al. Among authors: robinson pn. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31. Am J Med Genet C Semin Med Genet. 2023. PMID: 37654076 Free PMC article.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: robinson pn. HGG Adv. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Online ahead of print. HGG Adv. 2024. PMID: 39394689 Free PMC article.
Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: robinson p. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
Vanzacaftor-tezacaftor-deutivacaftor for children aged 6-11 years with cystic fibrosis (RIDGELINE Trial VX21-121-105): an analysis from a single-arm, phase 3 trial.
Hoppe JE, Kasi AS, Pittman JE, Jensen R, Thia LP, Robinson P, Tirakitsoontorn P, Ramsey B, Mall MA, Taylor-Cousar JL, McKone EF, Tullis E, Salinas DB, Zhu J, Chen YC, Rodriguez-Romero V, Sosnay PR, Davies G. Hoppe JE, et al. Among authors: robinson p. Lancet Respir Med. 2024 Dec 20:S2213-2600(24)00407-7. doi: 10.1016/S2213-2600(24)00407-7. Online ahead of print. Lancet Respir Med. 2024. PMID: 39756425 Free article.
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis.
Shear MA, Robinson PN, Sparks TN. Shear MA, et al. Among authors: robinson pn. Best Pract Res Clin Obstet Gynaecol. 2024 Dec 15;98:102575. doi: 10.1016/j.bpobgyn.2024.102575. Online ahead of print. Best Pract Res Clin Obstet Gynaecol. 2024. PMID: 39740319 Free article. Review.
Implementing digital respiratory technologies for people with respiratory conditions: A protocol for a scoping review.
Hui CY, Condon K, Kolekar S, Roberts N, Sreter KB, Simons SO, Figueiredo C, McKeough Z, Salim H, Gawlik-Lipinski A, Gonsard A, Önal Aral A, Vanoverschelde A, Armstrong M, Kohlbrenner D, Paixão C, Stafler P, Papadopoulou E, Rabe AP, Mohammad M, Bouloukaki I, Quach S, Chaabouni M, Kaltsakas G, Loveys K, Reier-Nilsen T, Sunjaya AP, Robinson P, Pinnock H, Chan AHY. Hui CY, et al. Among authors: robinson p. PLoS One. 2024 Dec 27;19(12):e0314914. doi: 10.1371/journal.pone.0314914. eCollection 2024. PLoS One. 2024. PMID: 39729438 Free PMC article.
4,465 results