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For: Lupski JR, Liu P, Stankiewicz P, Carvalho CMB, Posey JE. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 2020;20:995-1002. [PMID: 32954863 DOI: 10.1080/14737159.2020.1826312] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
Number Citing Articles
1 Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A 2021;185:3294-313. [PMID: 34405553 DOI: 10.1002/ajmg.a.62434] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
2 Lupski JR. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends Genet 2022:S0168-9525(22)00057-9. [PMID: 35450748 DOI: 10.1016/j.tig.2022.03.001] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
3 Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A 2021;185:1972-80. [PMID: 33797191 DOI: 10.1002/ajmg.a.62192] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
4 Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A 2021. [PMID: 34816580 DOI: 10.1002/ajmg.a.62565] [Reference Citation Analysis]
5 Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet 2021;12:708348. [PMID: 34512724 DOI: 10.3389/fgene.2021.708348] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Lupski JR, Posey JE, Chen S, Gong C, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics 2021;48:396-402. [PMID: 34006472 DOI: 10.1016/j.jgg.2021.02.008] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]