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For: 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]
Number Citing Articles
1 Mccarthy L, Abramchuk I, Wafy G, Denoncourt A, Lavallée-adam M, Downey M, Quinn J, Berman J. Ddp1 Cooperates with Ppx1 to Counter a Stress Response Initiated by Nonvacuolar Polyphosphate. mBio. [DOI: 10.1128/mbio.00390-22] [Reference Citation Analysis]
2 Gholizadeh MA, Mohammadi-Sarband M, Fardanesh F, Garshasbi M. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene. BMC Med Genomics 2022;15:78. [PMID: 35379233 DOI: 10.1186/s12920-022-01228-6] [Reference Citation Analysis]
3 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]
4 Mccarthy L, Abramchuk I, Wafy G, Denoncourt A, Lavallée-adam M, Downey M. Ddp1 cooperates with Ppx1 to counter a stress response initiated by non-vacuolar polyphosphate.. [DOI: 10.1101/2022.02.02.478728] [Reference Citation Analysis]
5 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]
6 Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D; Baylor-Hopkins Center for Mendelian Genomics. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet 2021;108:1981-2005. [PMID: 34582790 DOI: 10.1016/j.ajhg.2021.08.009] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 13.0] [Reference Citation Analysis]
7 Rijckmans E, Stouffs K, Jansen AC, Brock S. Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review. Eur J Paediatr Neurol 2021:S1090-3798(21)00156-2. [PMID: 34535379 DOI: 10.1016/j.ejpn.2021.08.006] [Reference Citation Analysis]
8 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]
9 Baijal K, Downey M. The promises of lysine polyphosphorylation as a regulatory modification in mammals are tempered by conceptual and technical challenges. Bioessays 2021;43:e2100058. [PMID: 33998006 DOI: 10.1002/bies.202100058] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
10 Posey JE. Multilocus inheritance and variable disease expressivity in rare disease. Genomics of Rare Diseases 2021. [DOI: 10.1016/b978-0-12-820140-4.00005-3] [Reference Citation Analysis]
11 Coban-akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR, Baylor Hopkins Center for Mendelian Genomics. De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation.. [DOI: 10.1101/2020.04.27.064824] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]