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For: Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 2017;101:789-802. [PMID: 29100090 DOI: 10.1016/j.ajhg.2017.09.018] [Cited by in Crossref: 38] [Cited by in F6Publishing: 34] [Article Influence: 7.6] [Reference Citation Analysis]
Number Citing Articles
1 Naert T, Vleminckx K. CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs. Drug Discov Today Technol 2018;28:41-52. [PMID: 30205880 DOI: 10.1016/j.ddtec.2018.07.001] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 4.8] [Reference Citation Analysis]
2 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]
3 Willis SC, Hess JE, Fryer JK, Whiteaker JM, Narum SR. Genomic region associated with run timing has similar haplotypes and phenotypic effects across three lineages of Chinook salmon. Evol Appl 2021;14:2273-85. [PMID: 34603498 DOI: 10.1111/eva.13290] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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5 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet 2021;108:337-45. [PMID: 33434492 DOI: 10.1016/j.ajhg.2020.12.014] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 22.0] [Reference Citation Analysis]
6 Gong P, Pelletier M, Silverman N, Kuhlman K, Wallerstein R. Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum. Case Reports in Perinatal Medicine 2022;11:20210063. [DOI: 10.1515/crpm-2021-0063] [Reference Citation Analysis]
7 Kosfeld A, Martens H, Hennies I, Haffner D, Weber RG. Kongenitale Anomalien der Nieren und ableitenden Harnwege (CA KUT). Medizinische Genetik 2018;30:448-60. [DOI: 10.1007/s11825-018-0226-y] [Reference Citation Analysis]
8 Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG. Genetic basis of human congenital anomalies of the kidney and urinary tract. J Clin Invest 2018;128:4-15. [PMID: 29293093 DOI: 10.1172/JCI95300] [Cited by in Crossref: 34] [Cited by in F6Publishing: 28] [Article Influence: 8.5] [Reference Citation Analysis]
9 Fox CS. Using Human Genetics to Drive Drug Discovery: A Perspective. Am J Kidney Dis 2019;74:111-9. [PMID: 30898364 DOI: 10.1053/j.ajkd.2018.12.045] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
10 Bis-Brewer DM, Züchner S. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance. Front Neurol 2018;9:958. [PMID: 30534106 DOI: 10.3389/fneur.2018.00958] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 3.3] [Reference Citation Analysis]
11 Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Exome-Based Rare-Variant Analyses in CKD. J Am Soc Nephrol 2019;30:1109-22. [PMID: 31085678 DOI: 10.1681/ASN.2018090909] [Cited by in Crossref: 17] [Cited by in F6Publishing: 10] [Article Influence: 5.7] [Reference Citation Analysis]
12 van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 2018;29:2348-61. [PMID: 30143558 DOI: 10.1681/ASN.2017121265] [Cited by in Crossref: 64] [Cited by in F6Publishing: 37] [Article Influence: 16.0] [Reference Citation Analysis]
13 Schrauwen I, Kari E, Mattox J, Llaci L, Smeeton J, Naymik M, Raible DW, Knowles JA, Crump JG, Huentelman MJ, Friedman RA. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet 2018;137:459-70. [PMID: 29955957 DOI: 10.1007/s00439-018-1898-8] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 3.0] [Reference Citation Analysis]
14 WareJoncas Z, Campbell JM, Martínez-Gálvez G, Gendron WAC, Barry MA, Harris PC, Sussman CR, Ekker SC. Precision gene editing technology and applications in nephrology. Nat Rev Nephrol 2018;14:663-77. [PMID: 30089813 DOI: 10.1038/s41581-018-0047-x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 7.0] [Reference Citation Analysis]
15 Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N; Task Force for Neonatal Genomics. Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. Am J Hum Genet 2019;104:94-111. [PMID: 30609410 DOI: 10.1016/j.ajhg.2018.11.017] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 4.7] [Reference Citation Analysis]
16 Nigam A, Knoers NVAM, Renkema KY. Impact of next generation sequencing on our understanding of CAKUT. Semin Cell Dev Biol 2019;91:104-10. [PMID: 30172048 DOI: 10.1016/j.semcdb.2018.08.013] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
17 Lemos MC, Thakker RV. Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations. Hum Mutat 2020;41:1341-50. [PMID: 32442337 DOI: 10.1002/humu.24052] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
18 Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM. Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Hum Genomics 2022;16:10. [PMID: 35361250 DOI: 10.1186/s40246-022-00385-0] [Reference Citation Analysis]
19 Malik SA, Modarage K, Goggolidou P. The Role of Wnt Signalling in Chronic Kidney Disease (CKD). Genes (Basel) 2020;11:E496. [PMID: 32365994 DOI: 10.3390/genes11050496] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
20 Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis 2020;15:214. [PMID: 32819397 DOI: 10.1186/s13023-020-01491-9] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 7.5] [Reference Citation Analysis]
21 Lasić V, Kosović I, Jurić M, Racetin A, Čurčić J, Šolić I, Lozić M, Filipović N, Šoljić V, Martinović V, Saraga-Babić M, Vukojević K. GREB1L, CRELD2 and ITGA10 expression in the human developmental and postnatal kidneys: an immunohistochemical study. Acta Histochem 2021;123:151679. [PMID: 33460985 DOI: 10.1016/j.acthis.2021.151679] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 Murugapoopathy V, Gupta IR. A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT). Clin J Am Soc Nephrol 2020;15:723-31. [PMID: 32188635 DOI: 10.2215/CJN.12581019] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 5.5] [Reference Citation Analysis]
23 Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM. Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Genes (Basel) 2020;11:E687. [PMID: 32585897 DOI: 10.3390/genes11060687] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
24 Ren Z, Povysil G, Hostyk JA, Cui H, Bhardwaj N, Goldstein DB. ATAV: a comprehensive platform for population-scale genomic analyses. BMC Bioinformatics 2021;22:149. [PMID: 33757430 DOI: 10.1186/s12859-021-04071-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
25 Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen AS, Goldstein DB. Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet 2019;20:747-59. [PMID: 31605095 DOI: 10.1038/s41576-019-0177-4] [Cited by in Crossref: 50] [Cited by in F6Publishing: 36] [Article Influence: 16.7] [Reference Citation Analysis]
26 Ichii O, Nakamura T, Horino T, Yabuki A, Elewa YHA, Kon Y. Abnormal Morphology of Distal Tubular Epithelial Cells Is Regulated by Genetic Factors Derived from Mouse Chromosome 12. Am J Pathol 2018;188:2120-38. [PMID: 29935167 DOI: 10.1016/j.ajpath.2018.05.011] [Reference Citation Analysis]
27 Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. Hum Reprod 2019;34:1838-46. [PMID: 31424080 DOI: 10.1093/humrep/dez126] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 7.0] [Reference Citation Analysis]
28 Kyei Barffour I, Kyei Baah Kwarkoh R. GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome. Eur J Med Genet 2021;64:104158. [PMID: 33548512 DOI: 10.1016/j.ejmg.2021.104158] [Reference Citation Analysis]
29 Christensen KA, Rondeau EB, Minkley DR, Sakhrani D, Biagi CA, Flores AM, Withler RE, Pavey SA, Beacham TD, Godin T, Taylor EB, Russello MA, Devlin RH, Koop BF. The sockeye salmon genome, transcriptome, and analyses identifying population defining regions of the genome. PLoS One 2020;15:e0240935. [PMID: 33119641 DOI: 10.1371/journal.pone.0240935] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
30 Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Rare genetic causes of complex kidney and urological diseases. Nat Rev Nephrol 2020;16:641-56. [PMID: 32807983 DOI: 10.1038/s41581-020-0325-2] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
31 Mallett AJ, Quinlan C, Patel C, Fowles L, Crawford J, Gattas M, Baer R, Bennetts B, Ho G, Holman K, Simons C. Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation. Kidney Med 2019;1:315-8. [PMID: 32734212 DOI: 10.1016/j.xkme.2019.06.006] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
32 Willis SC, Hess JE, Fryer JK, Whiteaker JM, Brun C, Gerstenberger R, Narum SR. Steelhead (Oncorhynchus mykiss) lineages and sexes show variable patterns of association of adult migration timing and age-at-maturity traits with two genomic regions. Evol Appl 2020;13:2836-56. [PMID: 33294026 DOI: 10.1111/eva.13088] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
33 Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain 2021;144:1451-66. [PMID: 33855352 DOI: 10.1093/brain/awab056] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
34 Showmaker KC, Cobb MB, Johnson AC, Yang W, Garrett MR. Whole genome sequencing and novel candidate genes for CAKUT and altered nephrogenesis in the HSRA rat. Physiol Genomics 2020;52:56-70. [PMID: 31841396 DOI: 10.1152/physiolgenomics.00112.2019] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]