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For: Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet 2019;51:117-27. [PMID: 30578417 DOI: 10.1038/s41588-018-0281-y] [Cited by in Crossref: 52] [Cited by in F6Publishing: 41] [Article Influence: 13.0] [Reference Citation Analysis]
Number Citing Articles
1 Damasio MB, Bodria M, Dolores M, Durand E, Sertorio F, Wong MCY, Dacher JN, Hassani A, Pistorio A, Mattioli G, Magnano G, Vivier PH. Comparative Study Between Functional MR Urography and Renal Scintigraphy to Evaluate Drainage Curves and Split Renal Function in Children With Congenital Anomalies of Kidney and Urinary Tract (CAKUT). Front Pediatr 2019;7:527. [PMID: 32047727 DOI: 10.3389/fped.2019.00527] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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4 Westland R, Renkema KY, Knoers NVAM. Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract. Clin J Am Soc Nephrol 2020;16:128-37. [PMID: 32312792 DOI: 10.2215/CJN.14661119] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
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6 Dan H, Ruan T, Sampogna RV. Circadian Clock Regulation of Developmental Time in the Kidney. Cell Rep 2020;31:107661. [PMID: 32433970 DOI: 10.1016/j.celrep.2020.107661] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
7 Zhu C, Zhang B, Peng T, Li MQ, Ren YY, Wu JN. Association of abnormal placental perfusion with the risk of male hypospadias: a hospital-based retrospective cohort study. BMC Pregnancy Childbirth 2020;20:673. [PMID: 33160306 DOI: 10.1186/s12884-020-03381-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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9 Yin D, Hu ZQ, Luo CB, Wang XY, Xin HY, Sun RQ, Wang PC, Li J, Fan J, Zhou ZJ, Zhou J, Zhou SL. LINC01133 promotes hepatocellular carcinoma progression by sponging miR-199a-5p and activating annexin A2. Clin Transl Med 2021;11:e409. [PMID: 34047479 DOI: 10.1002/ctm2.409] [Reference Citation Analysis]
10 Fernandez-Prado R, Kanbay M, Ortiz A, Perez-Gomez MV. Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction. Ann Transl Med 2019;7:S226. [PMID: 31656805 DOI: 10.21037/atm.2019.08.73] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
11 Nakatochi M, Kushima I, Ozaki N. Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies. J Hum Genet 2021;66:25-37. [PMID: 32958875 DOI: 10.1038/s10038-020-00838-1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
12 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]
13 Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med 2021:S1098-3600(21)04137-X. [PMID: 34906515 DOI: 10.1016/j.gim.2021.09.010] [Reference Citation Analysis]
14 Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol 2021:ASN. [PMID: 33597122 DOI: 10.1681/ASN.2020050681] [Reference Citation Analysis]
15 Lupski JR. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. Am J Hum Genet 2019;104:391-406. [PMID: 30849326 DOI: 10.1016/j.ajhg.2018.12.018] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
16 Milone R, Scalise R, Pasquariello R, Berloffa S, Ricca I, Battini R. De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability. Genes (Basel) 2021;12:511. [PMID: 33807234 DOI: 10.3390/genes12040511] [Reference Citation Analysis]
17 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]
18 Knoers NVAM, Renkema KY. The genomic landscape of CAKUT; you gain some, you lose some. Kidney Int 2019;96:267-9. [PMID: 31331462 DOI: 10.1016/j.kint.2019.03.017] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
19 Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int 2020;98:1020-30. [PMID: 32450157 DOI: 10.1016/j.kint.2020.04.045] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
20 Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter H, Weber S, Merz WM, Tkaczyk M, Miklaszewska M, Sikora P, Szmigielska A, Krzemien G, Zachwieja K, Szczepanska M, Taranta-Janusz K, Kroll P, Polok M, Zaniew M, Hilger AC. Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). Genes (Basel) 2021;12:1449. [PMID: 34573432 DOI: 10.3390/genes12091449] [Reference Citation Analysis]
21 Hay E, Cullup T, Barnicoat A. A practical approach to the genomics of kidney disorders. Pediatr Nephrol 2021. [PMID: 33675412 DOI: 10.1007/s00467-021-04995-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 Macioszek S, Wawrzyniak R, Kranz A, Kordalewska M, Struck-Lewicka W, Dudzik D, Biesemans M, Maternik M, Żurowska AM, Markuszewski MJ. Comprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept. Front Mol Biosci 2021;8:665661. [PMID: 34395519 DOI: 10.3389/fmolb.2021.665661] [Reference Citation Analysis]
23 Stingl CS, Jackson-Cook C, Couser NL. Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review. Case Rep Pediatr 2020;2020:2031701. [PMID: 32373379 DOI: 10.1155/2020/2031701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
24 Hasson D, Goldstein SL, Standage SW. The application of omic technologies to research in sepsis-associated acute kidney injury. Pediatr Nephrol 2021;36:1075-86. [PMID: 32356189 DOI: 10.1007/s00467-020-04557-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
25 Trick AY, Chen FE, Schares JA, Freml BE, Lor P, Yun Y, Wang TH. High resolution estimates of relative gene abundance with quantitative ratiometric regression PCR (qRR-PCR). Analyst 2021;146:6463-9. [PMID: 34605831 DOI: 10.1039/d1an01397a] [Reference Citation Analysis]
26 Oliveira EA, Mak RH, Simões E Silva AC. Editorial: Developmental Disorders of the Kidney and Urinary Tract: Recent Insights From Clinical and Molecular Studies. Front Pediatr 2020;8:348. [PMID: 32676489 DOI: 10.3389/fped.2020.00348] [Reference Citation Analysis]
27 Chen TJ, Song R, Janssen A, Yosypiv IV. Cytogenomic aberrations in isolated multicystic dysplastic kidney in children. Pediatr Res 2021. [PMID: 33790410 DOI: 10.1038/s41390-021-01476-9] [Reference Citation Analysis]
28 Chen CH, Bournat JC, Wilken N, Rosenfeld JA, Zhang J, Seth A, Jorgez CJ. Variants in ALX4 and their association with genitourinary defects. Andrology 2020;8:1243-55. [PMID: 32385972 DOI: 10.1111/andr.12815] [Reference Citation Analysis]
29 Hays T, Groopman EE, Gharavi AG. Genetic testing for kidney disease of unknown etiology. Kidney Int 2020;98:590-600. [PMID: 32739203 DOI: 10.1016/j.kint.2020.03.031] [Cited by in Crossref: 9] [Cited by in F6Publishing: 3] [Article Influence: 4.5] [Reference Citation Analysis]
30 Caliskan Y, Lee B, Whelan AM, Abualrub F, Lentine KL, Jittirat A. Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment. Curr Transpl Rep. [DOI: 10.1007/s40472-021-00340-3] [Reference Citation Analysis]
31 Bleyer AJ, Wolf MT, Kidd KO, Zivna M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol 2021. [PMID: 34021396 DOI: 10.1007/s00467-021-05118-4] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
32 Cao KX, Milmoe NJ, Cuckow PM, Olsen LH, Johal NS, Douglas Winyard PJ, Long DA, Fry CH. Antenatal biological models in the characterization and research of congenital lower urinary tract disorders. J Pediatr Urol 2021;17:21-9. [PMID: 33386226 DOI: 10.1016/j.jpurol.2020.11.022] [Reference Citation Analysis]
33 Stern-Zimmer M, Calderon-Margalit R, Skorecki K, Vivante A. Childhood risk factors for adulthood chronic kidney disease. Pediatr Nephrol 2021;36:1387-96. [PMID: 32500249 DOI: 10.1007/s00467-020-04611-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
34 Khan K, Ahram DF, Liu YP, Westland R, Sampogna RV, Katsanis N, Davis EE, Sanna-Cherchi S. Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. Kidney Int 2021:S0085-2538(21)01060-7. [PMID: 34780871 DOI: 10.1016/j.kint.2021.09.034] [Reference Citation Analysis]
35 Liu J, Wu N, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study., Japan Early Onset Scoliosis Research Group., Baylor-Hopkins Center for Mendelian Genomics. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med 2019;21:1548-58. [PMID: 30636772 DOI: 10.1038/s41436-018-0377-x] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 10.0] [Reference Citation Analysis]
36 Fishman CE, Mohebnasab M, van Setten J, Zanoni F, Wang C, Deaglio S, Amoroso A, Callans L, van Gelder T, Lee S, Kiryluk K, Lanktree MB, Keating BJ. Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN). Front Genet 2019;10:1084. [PMID: 31803228 DOI: 10.3389/fgene.2019.01084] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
37 Nishiyama K, Sanefuji M, Kurokawa M, Iwaya Y, Hamada N, Sonoda Y, Ogawa M, Shimono M, Suga R, Kusuhara K, Ohga S. Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study. American Journal of Kidney Diseases 2022. [DOI: 10.1053/j.ajkd.2022.03.003] [Reference Citation Analysis]
38 Cocchi E, Nestor JG, Gharavi AG. Clinical Genetic Screening in Adult Patients with Kidney Disease. Clin J Am Soc Nephrol 2020;15:1497-510. [PMID: 32646915 DOI: 10.2215/CJN.15141219] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
39 Zhou CX, Zhu XY, Zhu YJ, Gu LL, He LL, Liu W, Yang Y, Wu X, Duan HL, Ru T, Li J. Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series. Taiwan J Obstet Gynecol 2021;60:232-7. [PMID: 33678321 DOI: 10.1016/j.tjog.2021.01.001] [Reference Citation Analysis]
40 Wang X, Xiao H, Yao Y, Xu K, Liu X, Su B, Zhang H, Guan N, Zhong X, Zhang Y, Ding J, Wang F. Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Front Genet 2021;12:697085. [PMID: 34295353 DOI: 10.3389/fgene.2021.697085] [Reference Citation Analysis]
41 Cai M, Lin N, Fan X, Chen X, Xu S, Fu X, Xu L, Huang H. Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study. Front Pediatr 2022;10:895562. [DOI: 10.3389/fped.2022.895562] [Reference Citation Analysis]
42 Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Genetics-first approach improves diagnostics of ESKD patients younger than 50 years. Nephrol Dial Transplant 2020:gfaa363. [PMID: 33306124 DOI: 10.1093/ndt/gfaa363] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
43 Pepper RJ, Trompeter RS. The causes and consequences of paediatric kidney disease on adult nephrology care. Pediatr Nephrol 2021. [PMID: 34389906 DOI: 10.1007/s00467-021-05182-w] [Reference Citation Analysis]
44 Nakamura M, Kanda S, Kajiho Y, Morisada N, Iijima K, Harita Y. A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease. CEN Case Rep 2021;10:543-8. [PMID: 33942272 DOI: 10.1007/s13730-021-00604-y] [Reference Citation Analysis]
45 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]
46 Oh S, Song H, Freeman WM, Shin S, Janknecht R. Cooperation between ETS transcription factor ETV1 and histone demethylase JMJD1A in colorectal cancer. Int J Oncol 2020;57:1319-32. [PMID: 33174020 DOI: 10.3892/ijo.2020.5133] [Reference Citation Analysis]
47 Kagan M, Pleniceanu O, Vivante A. The genetic basis of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2022. [PMID: 35122119 DOI: 10.1007/s00467-021-05420-1] [Reference Citation Analysis]
48 Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A 2021;185:1388-98. [PMID: 33576134 DOI: 10.1002/ajmg.a.62104] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
49 Shang N, Khan A, Polubriaginof F, Zanoni F, Mehl K, Fasel D, Drawz PE, Carrol RJ, Denny JC, Hathcock MA, Arruda-Olson AM, Peissig PL, Dart RA, Brilliant MH, Larson EB, Carrell DS, Pendergrass S, Verma SS, Ritchie MD, Benoit B, Gainer VS, Karlson EW, Gordon AS, Jarvik GP, Stanaway IB, Crosslin DR, Mohan S, Ionita-Laza I, Tatonetti NP, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies. NPJ Digit Med 2021;4:70. [PMID: 33850243 DOI: 10.1038/s41746-021-00428-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
50 Kalantari S, Filges I. Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis. Mol Syndromol 2021;12:362-71. [PMID: 34899145 DOI: 10.1159/000518115] [Reference Citation Analysis]
51 Carlassara L, Zanoni F, Gharavi AG. Familial Aggregation of CKD: Gene or Environment? Am J Kidney Dis 2021;77:861-2. [PMID: 33583624 DOI: 10.1053/j.ajkd.2020.12.010] [Reference Citation Analysis]
52 Maya I, Smirin-Yosef P, Kahana S, Morag S, Yacobson S, Agmon-Fishman I, Matar R, Bitton E, Shohat M, Basel-Salmon L, Salmon-Divon M. A study of normal copy number variations in Israeli population. Hum Genet 2021;140:553-63. [PMID: 32980975 DOI: 10.1007/s00439-020-02225-4] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
53 Huang L, Qi C, Zhu G, Ding J, Yuan L, Sun J, He X, Wang X. Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Mol Genet Genomics 2022. [PMID: 35612621 DOI: 10.1007/s00438-022-01897-z] [Reference Citation Analysis]
54 Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet 2019;105:1286-93. [PMID: 31708116 DOI: 10.1016/j.ajhg.2019.10.004] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
55 Yang EH, Shin YB, Choi SH, Yoo HW, Kim HY, Kwak MJ, Park KH, Bae MH, Kong JH, Lee YJ, Nam SO, Kim YM. Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea. Front Pediatr 2021;9:690493. [PMID: 34604135 DOI: 10.3389/fped.2021.690493] [Reference Citation Analysis]
56 Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Akdemir ZC, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM, Smol T, Devisme L, Franquet H, Attié-bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wegner T, Scott A, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, Mccarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney International 2022. [DOI: 10.1016/j.kint.2022.01.028] [Reference Citation Analysis]