BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. Am J Med Genet A 2019;179:206-18. [PMID: 30556349 DOI: 10.1002/ajmg.a.60690] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 2.3] [Reference Citation Analysis]
Number Citing Articles
1 Boycott KM, Hartley T, Kernohan KD, Dyment DA, Howley H, Innes AM, Bernier FP, Brudno M. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery. The American Journal of Human Genetics 2022;109:1947-1959. [DOI: 10.1016/j.ajhg.2022.10.002] [Reference Citation Analysis]
2 Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Bacino CA, Lee BH, Chao HT; Undiagnosed Diseases Network. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A 2022. [PMID: 35194938 DOI: 10.1002/ajmg.a.62704] [Reference Citation Analysis]
3 Li P, Cheng S, Wen Y, Cheng B, Liu L, Wu X, Ao X, Huang Z, Liao C, Li S, Zhang F, Zhang Z. Identifying Candidate Genes Associated with Sporadic Amyotrophic Lateral Sclerosis via Integrative Analysis of Transcriptome-Wide Association Study and Messenger RNA Expression Profile. Cell Mol Neurobiol 2022. [PMID: 35038056 DOI: 10.1007/s10571-021-01186-0] [Reference Citation Analysis]
4 Bibbò F, Sorice C, Ferrucci V, Zollo M. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors. Front Oncol 2021;11:758146. [PMID: 34745995 DOI: 10.3389/fonc.2021.758146] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Choi HW. Fasciculations in Children. Pediatr Neurol 2021;125:40-7. [PMID: 34628142 DOI: 10.1016/j.pediatrneurol.2021.08.008] [Reference Citation Analysis]
6 Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet 2021;85:186-95. [PMID: 34111303 DOI: 10.1111/ahg.12437] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
7 Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 2021;29:3516-31. [PMID: 33105479 DOI: 10.1093/hmg/ddaa237] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 5.5] [Reference Citation Analysis]
8 Milone R, Aiello C, Pasquariello R, Rubegni A, Santorelli FM, Battini R, Bertini E. Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy. Journal of Pediatric Neurology 2021;19:116-23. [DOI: 10.1055/s-0040-1715526] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
9 Nistala H, Dronzek J, Gonzaga-jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. Functional modeling of NMIHBA-causingPRUNE1variants reveals a requirement for its exopolyphosphatase activity.. [DOI: 10.1101/2020.03.02.973909] [Reference Citation Analysis]
10 Fujii H, Sato N, Takanashi JI, Kimura Y, Morimoto E, Shigemoto Y, Suzuki F, Sasaki M, Sugimoto H. Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder. Brain Dev 2020;42:302-6. [PMID: 31882333 DOI: 10.1016/j.braindev.2019.12.001] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]