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For: Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-kiper PÖ, Barat-houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-daire V, Sanlaville D, Giuliano F, Le Quan Sang K, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Human Mutation 2016;37:847-64. [DOI: 10.1002/humu.23026] [Cited by in Crossref: 80] [Cited by in F6Publishing: 73] [Article Influence: 13.3] [Reference Citation Analysis]
Number Citing Articles
1 Yap C, Jamuar SS, Lai AH, Tan E, Ng I, Ting TW, Tan E. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. Gene 2020;731:144360. [DOI: 10.1016/j.gene.2020.144360] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
2 Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. J Med Genet 2020;57:760-8. [PMID: 32170002 DOI: 10.1136/jmedgenet-2019-106724] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
3 Stangler Herodež Š, Marčun Varda N, N KV, Krgović D. De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly. Balkan J Med Genet 2020;23:83-90. [PMID: 32953414 DOI: 10.2478/bjmg-2020-0008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
4 Schott DA, Stumpel CTRM, Klaassens M. Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment. Am J Med Genet A 2019;179:219-23. [PMID: 30556359 DOI: 10.1002/ajmg.a.60696] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
5 Montano C, Britton JF, Harris JR, Kerkhof J, Barnes BT, Lee JA, Sadikovic B, Sobreira N, Fahrner JA. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1. Am J Med Genet A 2022. [PMID: 35384273 DOI: 10.1002/ajmg.a.62754] [Reference Citation Analysis]
6 Theodore-Oklota C, Hartman DS, Hoffman DL, Björnsson HT. A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada. Adv Ther 2021. [PMID: 34843084 DOI: 10.1007/s12325-021-01953-x] [Reference Citation Analysis]
7 Shpargel KB, Starmer J, Wang C, Ge K, Magnuson T. UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. Proc Natl Acad Sci U S A 2017;114:E9046-55. [PMID: 29073101 DOI: 10.1073/pnas.1705011114] [Cited by in Crossref: 41] [Cited by in F6Publishing: 33] [Article Influence: 8.2] [Reference Citation Analysis]
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9 Mushino T, Hiroi T, Yamashita Y, Suzaki N, Mishima H, Ueno M, Kinoshita A, Minami K, Imai K, Yoshiura KI, Sonoki T, Tamura S. Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura. Intern Med 2021;60:1927-33. [PMID: 33518579 DOI: 10.2169/internalmedicine.6694-20] [Reference Citation Analysis]
10 Phetthong T, Tim-Aroon T, Khongkrapan A, Poomthavorn P, Wattanasirichaigoon D. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand. Am J Med Genet A 2020;182:1873-6. [PMID: 32525229 DOI: 10.1002/ajmg.a.61723] [Reference Citation Analysis]
11 Bai L, Yang L, Zhao C, Song L, Liu X, Bai C, Su G, Wei Z, Li G. Histone Demethylase UTX is an Essential Factor for Zygotic Genome Activation and Regulates Zscan4 Expression in Mouse Embryos. Int J Biol Sci 2019;15:2363-72. [PMID: 31595154 DOI: 10.7150/ijbs.34635] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
12 Piro E, Schierz IAM, Antona V, Pappalardo MP, Giuffrè M, Serra G, Corsello G. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. Ital J Pediatr 2020;46:136. [PMID: 32948218 DOI: 10.1186/s13052-020-00902-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
13 Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. Int J Mol Sci 2017;19:E82. [PMID: 29283410 DOI: 10.3390/ijms19010082] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
14 Schwenty-Lara J, Nehl D, Borchers A. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration. Hum Mol Genet 2020;29:305-19. [PMID: 31813957 DOI: 10.1093/hmg/ddz284] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 7.5] [Reference Citation Analysis]
15 So PL, Luk HM, Yu KPT, Cheng SSW, Hau EWL, Ho SKL, Lam STS, Lo IFM. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong. Am J Med Genet A 2021;185:675-86. [PMID: 33314698 DOI: 10.1002/ajmg.a.62003] [Reference Citation Analysis]
16 Meyfour A, Pooyan P, Pahlavan S, Rezaei-Tavirani M, Gourabi H, Baharvand H, Salekdeh GH. Chromosome-Centric Human Proteome Project Allies with Developmental Biology: A Case Study of the Role of Y Chromosome Genes in Organ Development. J Proteome Res 2017;16:4259-72. [PMID: 28914051 DOI: 10.1021/acs.jproteome.7b00446] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
17 Guo W, Zhao Y, Li S, Wang J, Liu X. Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report. BMC Med Genet 2020;21:193. [PMID: 33008324 DOI: 10.1186/s12881-020-01117-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
18 Davis EJ, Broestl L, Abdulai-Saiku S, Worden K, Bonham LW, Miñones-Moyano E, Moreno AJ, Wang D, Chang K, Williams G, Garay BI, Lobach I, Devidze N, Kim D, Anderson-Bergman C, Yu GQ, White CC, Harris JA, Miller BL, Bennett DA, Arnold AP, De Jager PL, Palop JJ, Panning B, Yokoyama JS, Mucke L, Dubal DB. A second X chromosome contributes to resilience in a mouse model of Alzheimer's disease. Sci Transl Med 2020;12:eaaz5677. [PMID: 32848093 DOI: 10.1126/scitranslmed.aaz5677] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 25.0] [Reference Citation Analysis]
19 Vajravelu ME, De León DD. Genetic characteristics of patients with congenital hyperinsulinism. Curr Opin Pediatr 2018;30:568-75. [PMID: 29750770 DOI: 10.1097/MOP.0000000000000645] [Cited by in Crossref: 22] [Cited by in F6Publishing: 9] [Article Influence: 7.3] [Reference Citation Analysis]
20 Theodore-Oklota C, Egan S, Paulich M, Evans CJ, Hartman DS, Hoffman DL, Björnsson HT. Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. Am J Med Genet A 2020;182:1592-600. [PMID: 32246746 DOI: 10.1002/ajmg.a.61584] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
21 Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD, Boycott KM, Campeau PM, Schwartz C, Sadikovic B; Care4Rare Canada Consortium. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. Am J Hum Genet 2018;102:156-74. [PMID: 29304373 DOI: 10.1016/j.ajhg.2017.12.008] [Cited by in Crossref: 66] [Cited by in F6Publishing: 59] [Article Influence: 16.5] [Reference Citation Analysis]
22 Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet 2019;56:89-95. [PMID: 30514738 DOI: 10.1136/jmedgenet-2018-105625] [Cited by in Crossref: 62] [Cited by in F6Publishing: 44] [Article Influence: 15.5] [Reference Citation Analysis]
23 Shpargel KB, Mangini CL, Xie G, Ge K, Magnuson T. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology. Development 2020;147:dev187997. [PMID: 32541010 DOI: 10.1242/dev.187997] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 5.0] [Reference Citation Analysis]
24 Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. Am J Med Genet A 2021;185:1666-77. [PMID: 33742552 DOI: 10.1002/ajmg.a.62129] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
25 Davis K, Azarcon P, Hickenlooper S, Bia R, Horiuchi E, Szulik MW, Franklin S. The role of demethylases in cardiac development and disease. J Mol Cell Cardiol 2021;158:89-100. [PMID: 34081951 DOI: 10.1016/j.yjmcc.2021.05.018] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. Epigenetics 2017;12:923-33. [PMID: 28933623 DOI: 10.1080/15592294.2017.1381807] [Cited by in Crossref: 40] [Cited by in F6Publishing: 36] [Article Influence: 8.0] [Reference Citation Analysis]
27 Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet 2017;25:1335-44. [PMID: 29255178 DOI: 10.1038/s41431-017-0023-0] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 4.8] [Reference Citation Analysis]
28 Panigrahi I, Kaur P, Chaudhry C, Shariq M, Naorem DD, Gowtham B, Kaur A, Dayal D. Short Stature Syndromes: Case Series from India. J Pediatr Genet. [DOI: 10.1055/s-0041-1726037] [Reference Citation Analysis]
29 Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A 2020;182:1053-65. [PMID: 32083401 DOI: 10.1002/ajmg.a.61518] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
30 Schwenty-Lara J, Pauli S, Borchers A. Using Xenopus to analyze neurocristopathies like Kabuki syndrome. Genesis 2021;59:e23404. [PMID: 33351273 DOI: 10.1002/dvg.23404] [Reference Citation Analysis]
31 Daly T, Roberts A, Yang E, Mochida GH, Bodamer O. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A 2020;182:441-5. [PMID: 31846209 DOI: 10.1002/ajmg.a.61454] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
32 Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 2018;20:1022-9. [PMID: 29300383 DOI: 10.1038/gim.2017.233] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 6.5] [Reference Citation Analysis]
33 Guo Z, Liu F, Li HJ. Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report. BMC Med Genet 2018;19:206. [PMID: 30509212 DOI: 10.1186/s12881-018-0724-4] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 2.3] [Reference Citation Analysis]
34 Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet 2017;173:2912-22. [DOI: 10.1002/ajmg.a.38417] [Cited by in Crossref: 32] [Cited by in F6Publishing: 25] [Article Influence: 6.4] [Reference Citation Analysis]
35 Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW. KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. Clin Epigenetics 2020;12:10. [PMID: 31924266 DOI: 10.1186/s13148-019-0802-2] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
36 Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. Eur J Med Genet 2018;61:315-21. [PMID: 29307790 DOI: 10.1016/j.ejmg.2018.01.005] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
37 Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. J Pediatr Hematol Oncol 2018;40:391-4. [PMID: 29489735 DOI: 10.1097/MPH.0000000000001111] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 2.3] [Reference Citation Analysis]
38 Andrade AC, Jee YH, Nilsson O. New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth
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39 Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med 2020;8:e1072. [PMID: 31814321 DOI: 10.1002/mgg3.1072] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
40 Shi W, Chen Y, Chen S, Li S, Chang C, Zhang L, Fei H, Huang H, Zhang J, Xu C. Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome. Journal of Bio-X Research 2018;1:140-6. [DOI: 10.1097/jbr.0000000000000022] [Reference Citation Analysis]
41 Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A. Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature. Eur J Med Genet 2021;64:104210. [PMID: 33794347 DOI: 10.1016/j.ejmg.2021.104210] [Reference Citation Analysis]
42 Tran N, Broun A, Ge K. Lysine Demethylase KDM6A in Differentiation, Development, and Cancer. Mol Cell Biol 2020;40:e00341-20. [PMID: 32817139 DOI: 10.1128/MCB.00341-20] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 5.0] [Reference Citation Analysis]
43 Galcheva S, Al-khawaga S, Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycaemia. Best Practice & Research Clinical Endocrinology & Metabolism 2018;32:551-73. [DOI: 10.1016/j.beem.2018.05.014] [Cited by in Crossref: 17] [Cited by in F6Publishing: 9] [Article Influence: 4.3] [Reference Citation Analysis]
44 Khodaeian M, Jafarinia E, Bitarafan F, Shafeii S, Almadani N, Daneshmand MA, Garshasbi M. Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A. Mol Syndromol 2021;12:118-26. [PMID: 34012382 DOI: 10.1159/000513199] [Reference Citation Analysis]
45 Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. BMC Med Genet 2018;19:31. [PMID: 29482518 DOI: 10.1186/s12881-018-0545-5] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 2.3] [Reference Citation Analysis]
46 Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet 2017;92:298-305. [PMID: 28295206 DOI: 10.1111/cge.13010] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 3.6] [Reference Citation Analysis]
47 Arsov T, Sestan M, Cekada N, Frkovic M, Andrews D, He Y, Shen N, Vinuesa CG, Jelusic M. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome. Eur J Med Genet 2019;62:103538. [PMID: 30213761 DOI: 10.1016/j.ejmg.2018.09.005] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
48 Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. Eur J Hum Genet 2021. [PMID: 34803161 DOI: 10.1038/s41431-021-00994-8] [Reference Citation Analysis]
49 Guo HX, Li BW, Hu M, Si SY, Feng K. Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report. World J Clin Cases 2021; 9(33): 10257-10264 [PMID: 34904097 DOI: 10.12998/wjcc.v9.i33.10257] [Reference Citation Analysis]
50 Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Horm Res Paediatr 2018;89:413-22. [PMID: 29902804 DOI: 10.1159/000488347] [Cited by in Crossref: 18] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
51 Frost J, Frost M, Batie M, Jiang H, Rocha S. Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia. Cancers (Basel) 2021;13:350. [PMID: 33477877 DOI: 10.3390/cancers13020350] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
52 Meyfour A, Pahlavan S, Ansari H, Baharvand H, Salekdeh GH. Down-Regulation of a Male-Specific H3K4 Demethylase, KDM5D, Impairs Cardiomyocyte Differentiation. J Proteome Res 2019;18:4277-82. [PMID: 31560558 DOI: 10.1021/acs.jproteome.9b00395] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
53 Timothy LD, Lehrke HD, Chandan VS, Kolbe AB, Furuya KN. Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. Case Rep Pediatr 2019;2019:7983824. [PMID: 31179148 DOI: 10.1155/2019/7983824] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
54 Nasreddine G, El Hajj J, Ghassibe-Sabbagh M. Orofacial clefts embryology, classification, epidemiology, and genetics. Mutat Res Rev Mutat Res 2021;787:108373. [PMID: 34083042 DOI: 10.1016/j.mrrev.2021.108373] [Reference Citation Analysis]
55 Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O. Prenatal and perinatal history in Kabuki Syndrome. Am J Med Genet A 2020;182:85-92. [PMID: 31654559 DOI: 10.1002/ajmg.a.61387] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
56 Hoermann H, El-Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann C, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S. Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. Clin Endocrinol (Oxf) 2020;93:346-54. [PMID: 32533869 DOI: 10.1111/cen.14267] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
57 Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. Eur J Pediatr 2021. [PMID: 34232366 DOI: 10.1007/s00431-021-04108-w] [Reference Citation Analysis]
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