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For: Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 2017;376:742-54. [PMID: 28121514 DOI: 10.1056/NEJMoa1609009] [Cited by in Crossref: 69] [Cited by in F6Publishing: 50] [Article Influence: 13.8] [Reference Citation Analysis]
Number Citing Articles
1 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]
2 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]
3 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]
4 Shi H, Wang Z. Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review. Medicine (Baltimore) 2018;97:e9936. [PMID: 29465581 DOI: 10.1097/MD.0000000000009936] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
5 Devuyst O. Genetics of kidney diseases in 2017: Unveiling the genetic architecture of kidney disease. Nat Rev Nephrol 2018;14:80-2. [PMID: 29307891 DOI: 10.1038/nrneph.2017.177] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
6 Cai M, Lin N, Su L, Wu X, Xie X, Li Y, Chen X, Lin Y, Huang H, Xu L. Copy number variations associated with fetal congenital kidney malformations. Mol Cytogenet 2020;13:11. [PMID: 32211073 DOI: 10.1186/s13039-020-00481-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
7 Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A 2018;176:2070-81. [PMID: 30380194 DOI: 10.1002/ajmg.a.40504] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 10.7] [Reference Citation Analysis]
8 Pinnaro CT, Henry T, Major HJ, Parida M, DesJardin LE, Manak JR, Darbro BW. Candidate modifier genes for immune function in 22q11.2 deletion syndrome. Mol Genet Genomic Med 2020;8:e1057. [PMID: 31830774 DOI: 10.1002/mgg3.1057] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Aiello FB, Guszczynski T, Li W, Hixon JA, Jiang Q, Hodge DL, Massignan T, Di Lisio C, Merchant A, Procopio AD, Bonetto V, Durum SK. IL-7-induced phosphorylation of the adaptor Crk-like and other targets. Cell Signal 2018;47:131-41. [PMID: 29581031 DOI: 10.1016/j.cellsig.2018.03.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
10 Chen W, Li X, Sun L, Sheng W, Huang G. A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects. Mol Genet Genomic Med 2019;7:e847. [PMID: 31297990 DOI: 10.1002/mgg3.847] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
11 Lines KE, Javid M, Reed AAC, Walls GV, Stevenson M, Simon M, Kooblall KG, Piret SE, Christie PT, Newey PJ, Mallon AM, Thakker RV. Genetic background influences tumour development in heterozygous Men1 knockout mice. Endocr Connect 2020;9:426-37. [PMID: 32348957 DOI: 10.1530/EC-20-0103] [Reference Citation Analysis]
12 Wu D, Chen Y, Chen Q, Wang G, Xu X, Peng A, Hao J, He J, Huang L, Dai J. Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre. J Genet 2019;98. [DOI: 10.1007/s12041-019-1090-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
13 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]
14 Elmonem MA, Berlingerio SP, van den Heuvel LP, de Witte PA, Lowe M, Levtchenko EN. Genetic Renal Diseases: The Emerging Role of Zebrafish Models. Cells 2018;7:E130. [PMID: 30200518 DOI: 10.3390/cells7090130] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
15 Hall G, Routh JC, Gbadegesin RA. Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype. Am J Kidney Dis 2017;70:8-10. [PMID: 28456345 DOI: 10.1053/j.ajkd.2017.03.017] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
16 Nestor JG, Groopman EE, Gharavi AG. Towards precision nephrology: the opportunities and challenges of genomic medicine. J Nephrol 2018;31:47-60. [PMID: 29043570 DOI: 10.1007/s40620-017-0448-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
17 Lin S, Shi S, Huang L, Lei T, Cai D, Hu W, Zhou Y, Luo Y. Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses? Mol Cytogenet 2019;12:31. [PMID: 31312255 DOI: 10.1186/s13039-019-0443-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
18 Hilger AC, Dworschak GC, Reutter HM. Lessons Learned from CNV Analysis of Major Birth Defects. Int J Mol Sci 2020;21:E8247. [PMID: 33153233 DOI: 10.3390/ijms21218247] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
19 Li S, Han X, Ye M, Chen S, Shen Y, Niu J, Wang Y, Xu C. Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome. Front Genet 2019;10:813. [PMID: 31543904 DOI: 10.3389/fgene.2019.00813] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
20 Park T. Crk and CrkL as Therapeutic Targets for Cancer Treatment. Cells 2021;10:739. [PMID: 33801580 DOI: 10.3390/cells10040739] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 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]
22 Edie S, Zaghloul NA, Leitch CC, Klinedinst DK, Lebron J, Thole JF, McCallion AS, Katsanis N, Reeves RH. Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio. G3 (Bethesda) 2018;8:2215-23. [PMID: 29760202 DOI: 10.1534/g3.118.200144] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 4.5] [Reference Citation Analysis]
23 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]
24 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]
25 van der Ven AT, Vivante A, Hildebrandt F. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 2018;29:36-50. [PMID: 29079659 DOI: 10.1681/ASN.2017050561] [Cited by in Crossref: 57] [Cited by in F6Publishing: 33] [Article Influence: 11.4] [Reference Citation Analysis]
26 Imamoto A, Ki S, Li L, Iwamoto K, Maruthamuthu V, Devany J, Lu O, Kanazawa T, Zhang S, Yamada T, Hirayama A, Fukuda S, Suzuki Y, Okada M. Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis. Life Sci Alliance 2020;3:e201900635. [PMID: 32041892 DOI: 10.26508/lsa.201900635] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
27 Woolf AS, Lopes FM, Ranjzad P, Roberts NA. Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies. Front Pediatr 2019;7:136. [PMID: 31032239 DOI: 10.3389/fped.2019.00136] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
28 Handel AE, Cheuk S, Dhalla F, Maio S, Hübscher T, Rota I, Deadman ME, Ekwall O, Lütolf M, Weinberg K, Holländer G. Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment. Sci Adv 2022;8:eabm9844. [PMID: 35559672 DOI: 10.1126/sciadv.abm9844] [Reference Citation Analysis]
29 Zhou X, Chen X, Jiang Y, Qi Q, Hao N, Liu C, Xu M, Cram DS, Liu J. A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples. Life (Basel) 2021;11:98. [PMID: 33525582 DOI: 10.3390/life11020098] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
30 Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, Kolon TF. Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. Am J Med Genet A 2019;179:381-5. [PMID: 30582277 DOI: 10.1002/ajmg.a.61020] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
31 Varga M, Ralbovszki D, Balogh E, Hamar R, Keszthelyi M, Tory K. Zebrafish Models of Rare Hereditary Pediatric Diseases. Diseases 2018;6:E43. [PMID: 29789451 DOI: 10.3390/diseases6020043] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
32 Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 2017;28:2901-14. [PMID: 28566479 DOI: 10.1681/ASN.2017010043] [Cited by in Crossref: 46] [Cited by in F6Publishing: 30] [Article Influence: 9.2] [Reference Citation Analysis]
33 Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A 2018;176:2058-69. [PMID: 30380191 DOI: 10.1002/ajmg.a.40637] [Cited by in Crossref: 33] [Cited by in F6Publishing: 23] [Article Influence: 11.0] [Reference Citation Analysis]
34 Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatr Nephrol 2018;33:745-61. [PMID: 28660367 DOI: 10.1007/s00467-017-3698-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
35 Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A 2018;176:1735-41. [PMID: 30055034 DOI: 10.1002/ajmg.a.38665] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
36 Beaman GM, Woolf AS, Lopes FM, Guo SA, Harkness JR, Cervellione RM, Keene D, Mushtaq I, Clatworthy MR, Newman WG. Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex. Journal of Pediatric Urology 2022. [DOI: 10.1016/j.jpurol.2022.04.006] [Reference Citation Analysis]
37 Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology 2018;90:e2059-67. [PMID: 29752303 DOI: 10.1212/WNL.0000000000005660] [Cited by in Crossref: 21] [Cited by in F6Publishing: 11] [Article Influence: 5.3] [Reference Citation Analysis]
38 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]
39 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]
40 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]
41 Li D, Gordon CT, Oufadem M, Amiel J, Kanwar HS, Bakay M, Wang T, Hakonarson H, Levine MA. Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism. J Clin Endocrinol Metab 2018;103:4023-32. [PMID: 30137364 DOI: 10.1210/jc.2018-01260] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
42 Lozic M, Minarik L, Racetin A, Filipovic N, Saraga Babic M, Vukojevic K. CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development. Int J Mol Sci 2021;22:9183. [PMID: 34502088 DOI: 10.3390/ijms22179183] [Reference Citation Analysis]
43 Beaman GM, Cervellione RM, Keene D, Reutter H, Newman WG. The Genomic Architecture of Bladder Exstrophy Epispadias Complex. Genes (Basel) 2021;12:1149. [PMID: 34440323 DOI: 10.3390/genes12081149] [Reference Citation Analysis]
44 Murphy MM, Lindsey Burrell T, Cubells JF, España RA, Gambello MJ, Goines KCB, Klaiman C, Li L, Novacek DM, Papetti A, Sanchez Russo RL, Saulnier CA, Shultz S, Walker E, Mulle JG. Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry 2018;18:183. [PMID: 29884173 DOI: 10.1186/s12888-018-1760-5] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
45 Friedrich S, Müller H, Riesterer C, Schüller H, Friedrich K, Wörner CL, Busch T, Viau A, Kuehn EW, Köttgen M, Hofherr A. Identification of pathological transcription in autosomal dominant polycystic kidney disease epithelia. Sci Rep 2021;11:15139. [PMID: 34301992 DOI: 10.1038/s41598-021-94442-8] [Reference Citation Analysis]
46 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]
47 Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A 2018;176:2082-6. [PMID: 29341423 DOI: 10.1002/ajmg.a.38597] [Cited by in Crossref: 24] [Cited by in F6Publishing: 22] [Article Influence: 6.0] [Reference Citation Analysis]
48 Funato N. Craniofacial Phenotypes and Genetics of DiGeorge Syndrome. JDB 2022;10:18. [DOI: 10.3390/jdb10020018] [Reference Citation Analysis]
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