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For: Fischer-zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U. SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. J Hum Genet 2019;64:609-16. [DOI: 10.1038/s10038-019-0602-8] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
Number Citing Articles
1 Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H. A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. Eur J Med Genet 2020;63:104039. [PMID: 32805445 DOI: 10.1016/j.ejmg.2020.104039] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
2 Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, Hall IF, Villa A, Sobacchi C, Colombi M. Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. Bone 2020;140:115571. [PMID: 32768688 DOI: 10.1016/j.bone.2020.115571] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
3 Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-nath C, Leibner A, Lurz E, Mayr JA, Mckiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genet Med 2020;22:610-21. [DOI: 10.1038/s41436-019-0698-4] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 9.0] [Reference Citation Analysis]
4 Khoreva A, Pomerantseva E, Belova N, Povolotskaya I, Konovalov F, Kaimonov V, Gavrina A, Zimin S, Pershin D, Davydova N, Burlakov V, Viktorova E, Roppelt A, Kalinina E, Novichkova G, Shcherbina A. Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature. Front Pediatr 2020;8:577. [PMID: 33042920 DOI: 10.3389/fped.2020.00577] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
5 Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. Am J Med Genet A 2020;182:1767-75. [PMID: 32297715 DOI: 10.1002/ajmg.a.61597] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
6 Beyens A, Boel A, Symoens S, Callewaert B. Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. Clin Genet 2021;99:53-66. [PMID: 33058140 DOI: 10.1111/cge.13865] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
7 Li ZD, Abuduxikuer K, Zhang J, Yang Y, Qiu YL, Huang Y, Xie XB, Lu Y, Wang JS. NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. Hepatol Res 2020;50:1306-15. [PMID: 32812336 DOI: 10.1111/hepr.13559] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]