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Cited by in F6Publishing
For: Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations. Human Mutation 2019;40:721-8. [DOI: 10.1002/humu.23734] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 5.0] [Reference Citation Analysis]
Number Citing Articles
1 Akesson LS, Rius R, Brown NJ, Rosenbaum J, Donoghue S, Stormon M, Chai C, Bordador E, Guo Y, Hakonarson H, Compton AG, Thorburn DR, Amarasekera S, Marum J, Monaco A, Lee C, Chong B, Lunke S, Stark Z, Christodoulou J. Distinct diagnostic trajectories in NBAS ‐associated acute liver failure highlights the need for timely functional studies. JIMD Reports. [DOI: 10.1002/jmd2.12280] [Reference Citation Analysis]
2 Nazmi F, Ozdogan E, Mungan NO, Arikan C. Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues. Liver Int 2021. [PMID: 34396667 DOI: 10.1111/liv.15038] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
3 Krishnan S, Rughani A, Tsai A, Palle S. Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. BMJ Case Rep 2021;14:e234993. [PMID: 33542026 DOI: 10.1136/bcr-2020-234993] [Reference Citation Analysis]
4 Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott CE, Mensah MA. Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. J Med Internet Res 2020;22:e19263. [PMID: 33090109 DOI: 10.2196/19263] [Cited by in Crossref: 2] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
5 Li W, Zhu Y, Guo Q, Wan C. Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report. BMC Gastroenterol 2020;20:308. [PMID: 32957979 DOI: 10.1186/s12876-020-01451-4] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
6 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: 4] [Article Influence: 1.5] [Reference Citation Analysis]
7 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: 2] [Article Influence: 1.0] [Reference Citation Analysis]
8 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: 1.5] [Reference Citation Analysis]
9 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: 4] [Article Influence: 2.0] [Reference Citation Analysis]
10 Chavany J, Cano A, Roquelaure B, Bourgeois P, Boubnova J, Gaignard P, Hoebeke C, Reynaud R, Rhomer B, Slama A, Badens C, Chabrol B, Fabre A. Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review. Archives de Pédiatrie 2020;27:155-9. [DOI: 10.1016/j.arcped.2020.01.003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
11 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: 24] [Article Influence: 6.0] [Reference Citation Analysis]
12 Ricci S, Lodi L, Serranti D, Moroni M, Belli G, Mancano G, La Barbera A, Forzano G, Mangone G, Indolfi G, Azzari C. Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature. Front Immunol 2019;10:1955. [PMID: 31507590 DOI: 10.3389/fimmu.2019.01955] [Cited by in Crossref: 8] [Cited by in F6Publishing: 12] [Article Influence: 2.7] [Reference Citation Analysis]
13 Danyel M, Cheng Z, Jung C, Boschann F, Pantel JT, Hajjir N, Flöttmann R, Schulz S, Demuth I, Sheridan E, Mundlos S, Horn D, Mensah MA. Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. Eur J Hum Genet 2019;27:1827-35. [PMID: 31320746 DOI: 10.1038/s41431-019-0469-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]