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For: Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet 2017;101:985-94. [PMID: 29198724 DOI: 10.1016/j.ajhg.2017.10.006] [Cited by in Crossref: 34] [Cited by in F6Publishing: 23] [Article Influence: 6.8] [Reference Citation Analysis]
Number Citing Articles
1 Tian W, Chen N, Ye Y, Ma C, Qin C, Niu Y, Xiaoxin L, Zhao L, Zhao H, Liang Z, Song S, Wang Y, Chen Z, Lin J, Yan Z, Duan J, Zhao S, Zhang TJ, Qiu G, Wu Z, Wu N, Zhu L. A genotype-first analysis in a cohort of Mullerian anomaly. J Hum Genet 2022. [PMID: 35022528 DOI: 10.1038/s10038-021-00996-w] [Reference Citation Analysis]
2 Mensah NE, Sabir AH, Bond A, Roworth W, Irving M, Davies AC, Ahn JW. Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing. Genetics in Medicine 2021. [DOI: 10.1016/j.gim.2021.11.021] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Zhang H, Zhuang Z, Yang M, Ding R, Quan J, Zhou S, Gu T, Xu Z, Zheng E, Cai G, Yang J, Wu Z. Genome-Wide Detection of Genetic Loci and Candidate Genes for Body Conformation Traits in Duroc × Landrace × Yorkshire Crossbred Pigs. Front Genet 2021;12:664343. [PMID: 34707635 DOI: 10.3389/fgene.2021.664343] [Reference Citation Analysis]
4 Zhu Z, Zhang X, Jiang Y, Ruan S, Huang F, Zeng H, Liu M, Xia W, Zeng F, Chen J, Cui Y, Chen H. NEAT1 functions as a key mediator of BMP2 to promote osteogenic differentiation of renal interstitial fibroblasts. Epigenomics 2021;13:1171-86. [PMID: 34325517 DOI: 10.2217/epi-2021-0212] [Reference Citation Analysis]
5 Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson WD, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. PLoS Genet 2021;17:e1009679. [PMID: 34324492 DOI: 10.1371/journal.pgen.1009679] [Reference Citation Analysis]
6 Donoghue SE, White SM, Tan TY, Kowalski R, Morava E, Yaplito-Lee J. Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy. JIMD Rep 2021;57:29-37. [PMID: 33473337 DOI: 10.1002/jmd2.12177] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 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: 8] [Article Influence: 11.0] [Reference Citation Analysis]
8 Ahluwalia N, Gelb BD. A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve. Am J Med Genet A 2021;185:575-8. [PMID: 33247540 DOI: 10.1002/ajmg.a.61992] [Reference Citation Analysis]
9 Gariballa N, Ali BR. Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives. Front Mol Biosci 2020;7:575608. [PMID: 33195419 DOI: 10.3389/fmolb.2020.575608] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
10 Halloran D, Durbano HW, Nohe A. Bone Morphogenetic Protein-2 in Development and Bone Homeostasis. J Dev Biol 2020;8:E19. [PMID: 32933207 DOI: 10.3390/jdb8030019] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 9.5] [Reference Citation Analysis]
11 Gumus E, Temiz E, Sarikaya B, Yuksekdag O, Sipahioglu S, Gonel A. The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip. Indian J Orthop 2021;55:169-75. [PMID: 33569111 DOI: 10.1007/s43465-020-00235-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
12 Asadollahpour Nanaei H, Esmailizadeh A, Ayatollahi Mehrgardi A, Han J, Wu DD, Li Y, Zhang YP. Comparative population genomic analysis uncovers novel genomic footprints and genes associated with small body size in Chinese pony. BMC Genomics 2020;21:496. [PMID: 32689947 DOI: 10.1186/s12864-020-06887-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
13 Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J, Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 2020;28:1243-64. [PMID: 32376988 DOI: 10.1038/s41431-020-0632-x] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 5.5] [Reference Citation Analysis]
14 Olsson B, Calixto RD, da Silva Machado NC, Meger MN, Paula-Silva FWG, Rebellato NLB, da Costa DJ, Küchler EC, Scariot R. MSX1 is differentially expressed in the deepest impacted maxillary third molars. Br J Oral Maxillofac Surg 2020;58:789-94. [PMID: 32381388 DOI: 10.1016/j.bjoms.2020.04.006] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Mishra R, Jain V, Gupta D, Saxena R, Kulshreshtha S, Ramprasad VL, Verma IC, Dua Puri R. Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. Mol Syndromol 2020;11:43-9. [PMID: 32256301 DOI: 10.1159/000505506] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. Genome Med 2019;11:79. [PMID: 31801603 DOI: 10.1186/s13073-019-0692-0] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 3.3] [Reference Citation Analysis]
17 Jee YH, Baron J, Nilsson O. New developments in the genetic diagnosis of short stature. Curr Opin Pediatr 2018;30:541-7. [PMID: 29787394 DOI: 10.1097/MOP.0000000000000653] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
18 Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. Am J Med Genet A 2019;179:1157-72. [PMID: 30980518 DOI: 10.1002/ajmg.a.61154] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
19 Wang H, Liu Y, Liu HC, Han D, Feng HL. [Detection and functional analysis of BMP2 gene mutation in patients with tooth agenesis]. Beijing Da Xue Xue Bao Yi Xue Ban 2019;51:9-15. [PMID: 30773537 DOI: 10.19723/j.issn.1671-167X.2019.01.003] [Reference Citation Analysis]
20 Hautefort A, Mendes-ferreira P, Sabourin J, Manaud G, Bertero T, Rucker-martin C, Riou M, Adão R, Manoury B, Lambert M, Boet A, Lecerf F, Domergue V, Brás-silva C, Gomez AM, Montani D, Girerd B, Humbert M, Antigny F, Perros F. Bmpr2 Mutant Rats Develop Pulmonary and Cardiac Characteristics of Pulmonary Arterial Hypertension. Circulation 2019;139:932-48. [DOI: 10.1161/circulationaha.118.033744] [Cited by in Crossref: 34] [Cited by in F6Publishing: 18] [Article Influence: 11.3] [Reference Citation Analysis]
21 Salazar VS, Capelo LP, Cantù C, Zimmerli D, Gosalia N, Pregizer S, Cox K, Ohte S, Feigenson M, Gamer L, Nyman JS, Carey DJ, Economides A, Basler K, Rosen V. Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche. Elife 2019;8:e42386. [PMID: 30735122 DOI: 10.7554/eLife.42386] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 4.3] [Reference Citation Analysis]
22 Xie H, Hong N, Zhang E, Li F, Sun K, Yu Y. Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. Front Genet 2019;10:15. [PMID: 30745907 DOI: 10.3389/fgene.2019.00015] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
23 Ma L, Wang J, Li L, Qiao Q, Di RM, Li XM, Xu YJ, Zhang M, Li RG, Qiu XB, Li X, Yang YQ. ISL1 loss-of-function mutation contributes to congenital heart defects. Heart Vessels 2019;34:658-68. [PMID: 30390123 DOI: 10.1007/s00380-018-1289-z] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 2.8] [Reference Citation Analysis]