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For: Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol 2016;137:179-187.e10. [PMID: 26194542 DOI: 10.1016/j.jaci.2015.06.002] [Cited by in Crossref: 42] [Cited by in F6Publishing: 39] [Article Influence: 6.0] [Reference Citation Analysis]
Number Citing Articles
1 Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM. Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency. J Allergy Clin Immunol 2021;147:704-712.e17. [PMID: 32745555 DOI: 10.1016/j.jaci.2020.07.021] [Cited by in Crossref: 10] [Cited by in F6Publishing: 13] [Article Influence: 5.0] [Reference Citation Analysis]
2 Starnes LM, Su D, Pikkupeura LM, Weinert BT, Santos MA, Mund A, Soria R, Cho YW, Pozdnyakova I, Kubec Højfeldt M, Vala A, Yang W, López-Méndez B, Lee JE, Peng W, Yuan J, Ge K, Montoya G, Nussenzweig A, Choudhary C, Daniel JA. A PTIP-PA1 subcomplex promotes transcription for IgH class switching independently from the associated MLL3/MLL4 methyltransferase complex. Genes Dev 2016;30:149-63. [PMID: 26744420 DOI: 10.1101/gad.268797.115] [Cited by in Crossref: 6] [Cited by in F6Publishing: 13] [Article Influence: 1.0] [Reference Citation Analysis]
3 Faundes V, Malone G, Newman WG, Banka S. A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. J Hum Genet 2019;64:161-70. [PMID: 30459467 DOI: 10.1038/s10038-018-0536-6] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 4.0] [Reference Citation Analysis]
4 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]
5 Wang X, Song Y, Chen W, Ding N, Liu W, Xie Y, Wang Y, Zhu J, Zeng C. Germline variants of DNA repair genes in early onset mantle cell lymphoma. Oncogene 2021;40:551-63. [PMID: 33191405 DOI: 10.1038/s41388-020-01542-2] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
6 Pilarowski GO, Cazares T, Zhang L, Benjamin JS, Liu K, Jagannathan S, Mousa N, Kasten J, Barski A, Lindsley AW, Bjornsson HT. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome. Journal of Allergy and Clinical Immunology 2020;145:982-92. [DOI: 10.1016/j.jaci.2019.11.034] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
7 Ramirez NJ, Posadas-Cantera S, Caballero-Oteyza A, Camacho-Ordonez N, Grimbacher B. There is no gene for CVID - novel monogenetic causes for primary antibody deficiency. Curr Opin Immunol 2021;72:176-85. [PMID: 34153571 DOI: 10.1016/j.coi.2021.05.010] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 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]
9 Shamriz O, Patel K, Marsh RA, Bleesing J, Joshi AY, Lucas L, Prince C, Pencheva BB, Kobrynski L, Chandrakasan S. Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome. Clin Immunol 2018;197:219-23. [PMID: 30368009 DOI: 10.1016/j.clim.2018.10.005] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
10 Luperchio TR, Boukas L, Zhang L, Pilarowski G, Jiang J, Kalinousky A, Hansen KD, Bjornsson HT. Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation. Elife 2021;10:e65884. [PMID: 34463256 DOI: 10.7554/eLife.65884] [Reference Citation Analysis]
11 Camacho-Ordonez N, Ballestar E, Timmers HTM, Grimbacher B. What can clinical immunology learn from inborn errors of epigenetic regulators? J Allergy Clin Immunol. 2021;147:1602-1618. [PMID: 33609625 DOI: 10.1016/j.jaci.2021.01.035] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
12 Campos-Sanchez E, Martínez-Cano J, Del Pino Molina L, López-Granados E, Cobaleda C. Epigenetic Deregulation in Human Primary Immunodeficiencies. Trends Immunol 2019;40:49-65. [PMID: 30509895 DOI: 10.1016/j.it.2018.11.005] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
13 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]
14 Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Kabuki Syndrome-Clinical Review with Molecular Aspects. Genes (Basel) 2021;12:468. [PMID: 33805950 DOI: 10.3390/genes12040468] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
15 Matsushima S, Kato K, Yoshimi A, Yoshiura KI, Tsuchida M. Pernicious anemia associated with Kabuki syndrome. Pediatr Int 2022;64:e14960. [PMID: 35092638 DOI: 10.1111/ped.14960] [Reference Citation Analysis]
16 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]
17 Martínez-Cano J, Campos-Sánchez E, Cobaleda C. Epigenetic Priming in Immunodeficiencies. Front Cell Dev Biol 2019;7:125. [PMID: 31355198 DOI: 10.3389/fcell.2019.00125] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
18 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]
19 Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol 2021:S0091-6749(21)00610-2. [PMID: 33864888 DOI: 10.1016/j.jaci.2021.04.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
20 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]
21 Kaiwar C, Kruisselbrink TM, Kudva YC, Klee EW, Pichurin P. Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. Clinical Immunology 2019;207:55-7. [DOI: 10.1016/j.clim.2018.09.013] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
22 Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, Gomez Mediavilla A, Urquieta Lam M, Insunza A, Tonda R, Beltran S, Gut M, Gonzalez A, Montes-Moreno S. Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS. J Clin Pathol 2020;73:571-7. [PMID: 31980558 DOI: 10.1136/jclinpath-2019-206282] [Reference Citation Analysis]
23 Varettoni M, Zibellini S, Defrancesco I, Ferretti VV, Rizzo E, Malcovati L, Gallì A, Porta MGD, Boveri E, Arcaini L, Candido C, Paulli M, Cazzola M. Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance. Haematologica 2017;102:2077-85. [PMID: 28983055 DOI: 10.3324/haematol.2017.172718] [Cited by in Crossref: 35] [Cited by in F6Publishing: 33] [Article Influence: 7.0] [Reference Citation Analysis]
24 Griffin DD, Dolen WK. B Cell Disorders in Children: Part II. Curr Allergy Asthma Rep 2020;20:64. [PMID: 32821980 DOI: 10.1007/s11882-020-00963-z] [Reference Citation Analysis]
25 Phalke S, Aviszus K, Rubtsova K, Rubtsov A, Barkes B, Powers L, Warner B, Crooks JL, Kappler JW, Fernández-Pérez ER, Maier LA, Hamzeh N, Marrack P. Age-associated B Cells Appear in Patients with Granulomatous Lung Diseases. Am J Respir Crit Care Med 2020;202:1013-23. [PMID: 32501729 DOI: 10.1164/rccm.201911-2151OC] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
26 Abolhassani H, Hammarström L, Cunningham-Rundles C. Current genetic landscape in common variable immune deficiency. Blood 2020;135:656-67. [PMID: 31942606 DOI: 10.1182/blood.2019000929] [Cited by in Crossref: 29] [Cited by in F6Publishing: 30] [Article Influence: 14.5] [Reference Citation Analysis]
27 Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. Int J Biol Sci 2018;14:381-9. [PMID: 29725259 DOI: 10.7150/ijbs.23517] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 4.0] [Reference Citation Analysis]
28 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]
29 Baumann U, Routes JM, Soler-Palacín P, Jolles S. The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation. Front Immunol 2018;9:1837. [PMID: 30147696 DOI: 10.3389/fimmu.2018.01837] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 8.5] [Reference Citation Analysis]
30 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]
31 Johar A, Sarmiento-Monroy JC, Rojas-Villarraga A, Silva-Lara MF, Patel HR, Mantilla RD, Velez JI, Schulte KM, Mastronardi C, Arcos-Burgos M, Anaya JM. Definition of mutations in polyautoimmunity. J Autoimmun 2016;72:65-72. [PMID: 27209085 DOI: 10.1016/j.jaut.2016.05.003] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
32 Heward JA, Koniali L, D'Avola A, Close K, Yeomans A, Philpott M, Dunford JE, Rahim T, Al Seraihi AF, Wang J, Korfi K, Araf S, Iqbal S, Bewicke-Copley F, Kumar E, Barisic D, Calaminici M, Clear AJ, Gribben JG, Johnson PWM, Neve RM, Cutillas PR, Okosun J, Oppermann U, Melnick A, Packham G, Fitzgibbon J. KDM5 inhibition offers a novel therapeutic strategy for the treatment of KMT2D mutant lymphomas. Blood 2021:blood. [PMID: 33786580 DOI: 10.1182/blood.2020008743] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
33 Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genet Med 2020;22:181-8. [PMID: 31363182 DOI: 10.1038/s41436-019-0623-x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
34 Wang YR, Xu NX, Wang J, Wang XM. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. World J Pediatr 2019;15:528-35. [PMID: 31587141 DOI: 10.1007/s12519-019-00309-4] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 4.3] [Reference Citation Analysis]
35 Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Dissecting KMT2D missense mutations in Kabuki syndrome patients. Hum Mol Genet 2018;27:3651-68. [PMID: 30107592 DOI: 10.1093/hmg/ddy241] [Cited by in Crossref: 26] [Cited by in F6Publishing: 24] [Article Influence: 8.7] [Reference Citation Analysis]
36 Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med 2021;23:1202-10. [PMID: 33674768 DOI: 10.1038/s41436-021-01119-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
37 Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. Sci Rep. 2017;7:3702. [PMID: 28623346 DOI: 10.1038/s41598-017-02434-4] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 3.8] [Reference Citation Analysis]
38 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]
39 Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ. Advances in basic and clinical immunology in 2016. Journal of Allergy and Clinical Immunology 2017;140:959-73. [DOI: 10.1016/j.jaci.2017.07.023] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
40 Sheppard EC, Morrish RB, Dillon MJ, Leyland R, Chahwan R. Epigenomic Modifications Mediating Antibody Maturation. Front Immunol 2018;9:355. [PMID: 29535729 DOI: 10.3389/fimmu.2018.00355] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.5] [Reference Citation Analysis]