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For: Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M; Genomics England Research Consortium. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet 2021;108:115-33. [PMID: 33308444 DOI: 10.1016/j.ajhg.2020.11.015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 11.0] [Reference Citation Analysis]
Number Citing Articles
1 Liu Y, Guerrero-Juarez CF, Xiao F, Shettigar NU, Ramos R, Kuan CH, Lin YC, de Jesus Martinez Lomeli L, Park JM, Oh JW, Liu R, Lin SJ, Tartaglia M, Yang RB, Yu Z, Nie Q, Li J, Plikus MV. Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state. Dev Cell 2022;57:1758-1775.e7. [PMID: 35777353 DOI: 10.1016/j.devcel.2022.06.005] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Garavaglia B, Vallian S, Romito LM, Straccia G, Capecci M, Invernizzi F, Andrenelli E, Kazemi A, Boesch S, Kopajtich R, Olfati N, Shariati M, Shoeibi A, Sadr-Nabavi A, Prokisch H, Winkelmann J, Zech M. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord 2022;97:52-6. [PMID: 35306330 DOI: 10.1016/j.parkreldis.2022.03.007] [Reference Citation Analysis]
3 Xu P, Luo A, Xiong C, Ren H, Yan L, Luo Q. SCUBE3 downregulation modulates hepatocellular carcinoma by inhibiting CCNE1 via TGFβ/PI3K/AKT/GSK3β pathway. Cancer Cell Int 2022;22:1. [PMID: 34980127 DOI: 10.1186/s12935-021-02402-z] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 13.0] [Reference Citation Analysis]
4 Mangiavini L, Peretti GM, Canciani B, Maffulli N. Epidermal growth factor signalling pathway in endochondral ossification: an evidence-based narrative review. Ann Med 2022;54:37-50. [PMID: 34955078 DOI: 10.1080/07853890.2021.2015798] [Reference Citation Analysis]
5 Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. Am J Hum Genet 2021;108:2112-29. [PMID: 34626534 DOI: 10.1016/j.ajhg.2021.09.007] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
6 Marzollo A, Conti F, Rossini L, Rivalta B, Leonardi L, Tretti C, Tosato F, Chiriaco M, Ursu GM, Natalucci CT, Martella M, Borghesi A, Mancini C, Ciolfi A, di Matteo G, Tartaglia M, Cancrini C, Dotta A, Biffi A, Finocchi A, Bresolin S. Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature. J Clin Immunol 2021. [PMID: 34718934 DOI: 10.1007/s10875-021-01159-4] [Reference Citation Analysis]
7 Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies. Sci Rep 2021;11:19099. [PMID: 34580403 DOI: 10.1038/s41598-021-98646-w] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
8 Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. Am J Med Genet A 2021. [PMID: 34159694 DOI: 10.1002/ajmg.a.62399] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Rios JJ, Denton K, Yu H, Manickam K, Garner S, Russell J, Ludwig S, Rosenfeld JA, Liu P, Munch J, Sucato DJ, Beutler B, Wise CA. Saturation mutagenesis defines novel mouse models of severe spine deformity. Dis Model Mech 2021;14:dmm048901. [PMID: 34142127 DOI: 10.1242/dmm.048901] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Bertoli-Avella AM, Beetz C, Ameziane N, Bauer P. Reply letter to Battke et al. Eur J Hum Genet 2021;29:724-5. [PMID: 33597734 DOI: 10.1038/s41431-021-00819-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]