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For: Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr 2014;82:44-52. [PMID: 24970356 DOI: 10.1159/000360857] [Cited by in Crossref: 47] [Cited by in F6Publishing: 37] [Article Influence: 5.9] [Reference Citation Analysis]
Number Citing Articles
1 Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. J Pediatr Endocrinol Metab 2015;28:927-32. [PMID: 25741789 DOI: 10.1515/jpem-2014-0450] [Cited by in Crossref: 34] [Cited by in F6Publishing: 32] [Article Influence: 5.7] [Reference Citation Analysis]
2 Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med 2018;20:630-8. [PMID: 29758562 DOI: 10.1038/gim.2017.159] [Cited by in Crossref: 51] [Cited by in F6Publishing: 47] [Article Influence: 10.2] [Reference Citation Analysis]
3 Cohen M, Pignatti E, Dines M, Mory A, Ekhilevitch N, Kolodny R, Flück CE, Tiosano D. In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. Int J Mol Sci 2020;21:E5857. [PMID: 32824094 DOI: 10.3390/ijms21165857] [Cited by in Crossref: 3] [Article Influence: 1.5] [Reference Citation Analysis]
4 Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet 2021;108:1526-39. [PMID: 34270938 DOI: 10.1016/j.ajhg.2021.06.013] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
5 Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med 2021;23:813-5. [PMID: 33514815 DOI: 10.1038/s41436-020-01046-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Ilenwabor BP, Schigt H, Kompatscher A, Bos C, Zuidscherwoude M, van der Eerden BCJ, Hoenderop JGJ, de Baaij JHF. FAM111A is dispensable for electrolyte homeostasis in mice. Sci Rep 2022;12:10211. [PMID: 35715480 DOI: 10.1038/s41598-022-14054-8] [Reference Citation Analysis]
7 Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V. Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies. Horm Res Paediatr 2017;87:412-22. [PMID: 28395282 DOI: 10.1159/000464143] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 1.8] [Reference Citation Analysis]
8 Kim Y, Lee Y, Park JH, Lee H, Cheon CK, Kim S, Hwang J, Jang J, Yoo H. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing: KIM et al. Clin Genet 2017;92:594-605. [DOI: 10.1111/cge.13038] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
9 Mastromauro C, Chiarelli F; Department of Paediatrics, University of Chieti, Chieti, Italy, Department of Paediatrics, University of Chieti, Chieti, Italy. Novel Insights Into the Genetic Causes of Short Stature in Children. Endocrinology 2022;18:49. [DOI: 10.17925/ee.2022.18.1.49] [Reference Citation Analysis]
10 Ansari H, Mohammadi-Asl J, Hajjari M, Tahmasebi-Birgani M, Kollaee A, Jassemi-Zergani F, Vakili-Hajiagha A. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia. J Gene Med 2019;21:e3103. [PMID: 31177591 DOI: 10.1002/jgm.3103] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
11 Cheng SSW, Chan PKJ, Luk HM, Mok MT, Lo IFM. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature. Am J Med Genet A 2021;185:636-46. [PMID: 33263187 DOI: 10.1002/ajmg.a.61991] [Reference Citation Analysis]
12 Murray PG, Clayton PE, Chernausek SD. A genetic approach to evaluation of short stature of undetermined cause. The Lancet Diabetes & Endocrinology 2018;6:564-74. [DOI: 10.1016/s2213-8587(18)30034-2] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 6.5] [Reference Citation Analysis]
13 Cavole TR, Perrone E, de Faria Soares MF, Dias da Silva MR, Maeda SS, Lazaretti-Castro M, Alvarez Perez AB. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. Am J Med Genet A 2020;182:3029-34. [PMID: 33010201 DOI: 10.1002/ajmg.a.61896] [Reference Citation Analysis]
14 Hochstenbach R, van Binsbergen E, Schuring-Blom H, Buijs A, Ploos van Amstel HK. A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing. Eur J Med Genet 2019;62:103543. [PMID: 30248410 DOI: 10.1016/j.ejmg.2018.09.010] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
15 Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99:3080-92. [PMID: 24915122 DOI: 10.1210/jc.2014-1506] [Cited by in Crossref: 67] [Cited by in F6Publishing: 60] [Article Influence: 8.4] [Reference Citation Analysis]
16 Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Clinical profiles and genetic spectra of 814 Chinese children with short stature. J Clin Endocrinol Metab 2021:dgab863. [PMID: 34850017 DOI: 10.1210/clinem/dgab863] [Reference Citation Analysis]
17 de Bruin C, Dauber A. Insights from exome sequencing for endocrine disorders. Nat Rev Endocrinol 2015;11:455-64. [PMID: 25963271 DOI: 10.1038/nrendo.2015.72] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 4.0] [Reference Citation Analysis]
18 Moosa S, Chentli F, Altmüller J, Bögershausen N, Nürnberg P, Yigit G, Li Y, Wollnik B. Genomic basis of syndromic short stature in an Algerian patient cohort. Am J Med Genet A 2021. [PMID: 34644002 DOI: 10.1002/ajmg.a.62532] [Reference Citation Analysis]
19 Muthuirulan P, Capellini TD. Complex Phenotypes: Mechanisms Underlying Variation in Human Stature. Curr Osteoporos Rep 2019;17:301-23. [PMID: 31441021 DOI: 10.1007/s11914-019-00527-9] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
20 Wortmann SB, Duba H. Angewandte Genetik in der Pädiatrie. Monatsschr Kinderheilkd 2018;166:774-84. [DOI: 10.1007/s00112-018-0525-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
21 Jorge A. Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency. Horm Res Paediatr 2017;88:421-2. [DOI: 10.1159/000481792] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
22 Grosse G, Hilger A, Ludwig M, Reutter H, Lorenzen F, Even G, Holterhus PM, Woelfle J; German GHI Study Group. Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. Horm Res Paediatr 2017;88:408-17. [PMID: 29073591 DOI: 10.1159/000480505] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.2] [Reference Citation Analysis]
23 Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of Clinical Endocrinology & Metabolism 2019;104:2023-30. [DOI: 10.1210/jc.2018-01971] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 7.0] [Reference Citation Analysis]
24 Guo MH, Hirschhorn JN, Dauber A. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab 2018;103:3155-68. [PMID: 29982553 DOI: 10.1210/jc.2018-01126] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
25 Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet 2019;27:1061-71. [PMID: 30809043 DOI: 10.1038/s41431-019-0362-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
26 Dauber A. New genetic tools in the diagnosis of growth defects. Growth Horm IGF Res 2018;38:24-8. [PMID: 29157920 DOI: 10.1016/j.ghir.2017.11.002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
27 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]
28 Kamil G, Yoon JY, Yoo S, Cheon CK. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet J Rare Dis 2021;16:297. [PMID: 34217350 DOI: 10.1186/s13023-021-01937-8] [Reference Citation Analysis]
29 Lee IK, Lim HH, Kim YM. The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings. Yonsei Med J 2020;61:981-5. [PMID: 33107243 DOI: 10.3349/ymj.2020.61.11.981] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
30 Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. Endocr Rev 2019;40:476-505. [PMID: 30265312 DOI: 10.1210/er.2018-00146] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 5.7] [Reference Citation Analysis]
31 Zhang S, Chen S, Qin H, Yuan H, Pi Y, Yang Y, Huang H, Li G, Sun Y, Wang Z, Ma H, Fu X, Zhou T, Wang J, Zhang H, Shen Y. Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet J Rare Dis 2019;14:144. [PMID: 31200758 DOI: 10.1186/s13023-019-1111-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
32 Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. J Pediatr 2019;215:192-8. [PMID: 31630891 DOI: 10.1016/j.jpeds.2019.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
33 Dauber A, Meng Y, Audi L, Vedantam S, Weaver B, Carrascosa A, Albertsson-Wikland K, Ranke MB, Jorge AAL, Cara J, Wajnrajch MP, Lindberg A, Camacho-Hübner C, Hirschhorn JN. A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness. J Clin Endocrinol Metab 2020;105:dgaa443. [PMID: 32652002 DOI: 10.1210/clinem/dgaa443] [Cited by in Crossref: 7] [Cited by in F6Publishing: 2] [Article Influence: 7.0] [Reference Citation Analysis]
34 Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. Int J Pediatr Endocrinol 2017;2017:1. [PMID: 28138333 DOI: 10.1186/s13633-016-0041-7] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
35 Chiarelli F, Primavera M, Mastromauro C. Evaluation and management of a child with short stature. Minerva Pediatr 2020;72:452-61. [PMID: 32686926 DOI: 10.23736/S0026-4946.20.05980-0] [Reference Citation Analysis]
36 Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmol 2021;99:e594-607. [PMID: 32996714 DOI: 10.1111/aos.14615] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
37 Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CAL, Kant SG. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. European Journal of Endocrinology 2016;174:R145-73. [DOI: 10.1530/eje-15-0937] [Cited by in Crossref: 75] [Cited by in F6Publishing: 40] [Article Influence: 12.5] [Reference Citation Analysis]
38 de Bruin C, Orbak Z, Andrew M, Hwa V, Dauber A. Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency. Horm Res Paediatr. 2016;85:358-362. [PMID: 26789720 DOI: 10.1159/000443684] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
39 Marchini A, Ogata T, Rappold GA. A Track Record on SHOX: From Basic Research to Complex Models and Therapy. Endocr Rev 2016;37:417-48. [PMID: 27355317 DOI: 10.1210/er.2016-1036] [Cited by in Crossref: 46] [Cited by in F6Publishing: 38] [Article Influence: 7.7] [Reference Citation Analysis]
40 Romero CJ, Mehta L, Rapaport R. Genetic Techniques in the Evaluation of Short Stature. Endocrinology and Metabolism Clinics of North America 2016;45:345-58. [DOI: 10.1016/j.ecl.2016.02.006] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
41 Dauber A. IGF-I Deficiency in the Era of Genomics: Lessons Learned. Horm Res Paediatr 2017;88:418-20. [PMID: 28965112 DOI: 10.1159/000481285] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
42 Collett-solberg PF, Jorge AA, Boguszewski MC, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, Saenger P. Growth hormone therapy in children; research and practice – A review. Growth Hormone & IGF Research 2019;44:20-32. [DOI: 10.1016/j.ghir.2018.12.004] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
43 Hughes IP, Choong C, Rath S, Atkinson H, Cotterill A, Cutfield W, Hofman P, Harris M. Early cessation and non-response are important and possibly related problems in growth hormone therapy: An OZGROW analysis. Growth Horm IGF Res 2016;29:63-70. [PMID: 27179230 DOI: 10.1016/j.ghir.2016.04.006] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
44 Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, Woelfle J. Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. Horm Res Paediatr 2019;92:1-14. [PMID: 31514194 DOI: 10.1159/000502231] [Cited by in Crossref: 60] [Cited by in F6Publishing: 48] [Article Influence: 20.0] [Reference Citation Analysis]
45 Domené S, Scaglia PA, Gutiérrez ML, Domené HM. Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development. Cells 2021;10:2063. [PMID: 34440832 DOI: 10.3390/cells10082063] [Reference Citation Analysis]