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De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. Malhotra A, et al. Among authors: schneider a. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820033
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Among authors: schneider a. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: schneider a. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Interstitial deletion of 4(q21q25) in a liveborn male.
Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Rose NC, et al. Among authors: schneider a. Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115. Am J Med Genet. 1991. PMID: 1887853 Review.
Duplication 9q34-->qter identified by chromosome painting.
Spinner NB, Lucas JN, Poggensee M, Jacquette M, Schneider A. Spinner NB, et al. Among authors: schneider a. Am J Med Genet. 1993 Mar 1;45(5):609-13. doi: 10.1002/ajmg.1320450519. Am J Med Genet. 1993. PMID: 8456834
4,797 results