Below are the most recent publications written about "Microcephaly" by people in Profiles.
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Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno G?, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Y?ksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nat Commun. 2022 11 04; 13(1):6664.
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Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Hagelstrom RT, Taft RJ, Vanderver A. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. Cold Spring Harb Mol Case Stud. 2021 12; 7(6).
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Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021 05 20; 16(1):231.
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Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279.
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Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Growth in individuals with Saul-Wilson syndrome. Am J Med Genet A. 2020 09; 182(9):2110-2116.
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Tipsuriyaporn B, Ammar MJ, Yonekawa Y. CTNNB1 (?-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT. Retin Cases Brief Rep. 2022 May 01; 16(3):259-262.
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Tarnauskaite ?, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Hum Mutat. 2019 08; 40(8):1063-1070.
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Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA. 2019 09; 25(9):1130-1149.
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Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. Mol Genet Metab. 2019 04; 126(4):475-488.
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Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018 02; 176(2):465-469.