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For: Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. J Pediatr 2019;215:192-8. [PMID: 31630891 DOI: 10.1016/j.jpeds.2019.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
Number Citing Articles
1 Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med 2021;23:813-5. [PMID: 33514815 DOI: 10.1038/s41436-020-01046-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Peeters S, Declerck K, Thomas M, Boudin E, Beckers D, Chivu O, Heinrichs C, Devriendt K, de Zegher F, Van Hul W, Vanden Berghe W, De Schepper J, Rooman R, Mortier G; WES-BESPEED Study Group. DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age. J Clin Endocrinol Metab 2020;105:dgaa465. [PMID: 32685970 DOI: 10.1210/clinem/dgaa465] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
3 Mcquaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert F, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. JCI Insight 2022;7:e155648. [DOI: 10.1172/jci.insight.155648] [Reference Citation Analysis]
4 Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M; Genomics England Research Consortium. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet 2021;108:115-33. [PMID: 33308444 DOI: 10.1016/j.ajhg.2020.11.015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 11.0] [Reference Citation Analysis]
5 Giacomozzi C. Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much to Discover. Front Endocrinol (Lausanne) 2021;12:671361. [PMID: 34122345 DOI: 10.3389/fendo.2021.671361] [Reference Citation Analysis]
6 Denkiewicz-Kruk M, Jedrychowska M, Endo S, Araki H, Jonczyk P, Dmowski M, Fijalkowska IJ. Recombination and Pol ζ Rescue Defective DNA Replication upon Impaired CMG Helicase-Pol ε Interaction. Int J Mol Sci 2020;21:E9484. [PMID: 33322195 DOI: 10.3390/ijms21249484] [Reference Citation Analysis]
7 Gao F, Zhao X, Cao B, Fan X, Li X, Li L, Sui S, Su Z, Gong C. Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature. JPM 2022;12:407. [DOI: 10.3390/jpm12030407] [Reference Citation Analysis]
8 Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A 2021;185:1649-65. [PMID: 33783954 DOI: 10.1002/ajmg.a.62124] [Reference Citation Analysis]
9 Kim SY, Kim MJ, Kim SJ, Lee JE, Chae JH, Ko JM. A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. Brain Dev 2021;43:454-8. [PMID: 33248856 DOI: 10.1016/j.braindev.2020.11.004] [Reference Citation Analysis]
10 Sun H, Li N, Wan N. Molecular genetic analysis and growth hormone response in patients with syndromic short stature. BMC Med Genomics 2021;14:261. [PMID: 34740356 DOI: 10.1186/s12920-021-01113-8] [Reference Citation Analysis]
11 Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P. Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clin Genet 2021;99:540-6. [PMID: 33372278 DOI: 10.1111/cge.13911] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 D'Amico A, Fattori F, Nicita F, Barresi S, Tasca G, Verardo M, Pizzi S, Moroni I, De Mitri F, Frongia A, Pane M, Mercuri E, Tartaglia M, Bertini E. A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. Front Genet 2020;11:565868. [PMID: 33193651 DOI: 10.3389/fgene.2020.565868] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
13 Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Lupski JR, Posey JE, Chen S, Gong C, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics 2021;48:396-402. [PMID: 34006472 DOI: 10.1016/j.jgg.2021.02.008] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Sorrentino U, Piccolo C, Rigon C, Brasson V, Trevisson E, Boaretto F, Martini A, Cassina M. DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature. Audiol Res 2021;11:582-93. [PMID: 34698053 DOI: 10.3390/audiolres11040052] [Reference Citation Analysis]
15 Dawidziuk M, Kutkowska-Kazmierczak A, Bukowska-Olech E, Jurek M, Kalka E, Guilbride DL, Furmanek MI, Bekiesinska-Figatowska M, Bal J, Gawlinski P. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome. Int J Mol Sci 2022;23:692. [PMID: 35054877 DOI: 10.3390/ijms23020692] [Reference Citation Analysis]
16 Daher MT, Bausero P, Agbulut O, Li Z, Parlakian A. Bcl11b/Ctip2 in Skin, Tooth, and Craniofacial System. Front Cell Dev Biol 2020;8:581674. [PMID: 33363142 DOI: 10.3389/fcell.2020.581674] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
17 Berland S, Haukanes BI, Juliusson PB, Houge G. Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay. J Med Genet 2020:jmedgenet-2020-107401. [PMID: 33443097 DOI: 10.1136/jmedgenet-2020-107401] [Reference Citation Analysis]
18 Prasad M, Balci TB, Prasad C, Andrews JD, Lee R, Jurkiewicz MT, Napier MP, Colaiacovo S, Guillen Sacoto MJ, Karp N. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype. Eur J Med Genet 2020;63:104007. [PMID: 32659295 DOI: 10.1016/j.ejmg.2020.104007] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]