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Page 1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: curry cj. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: curry cj. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: curry cj. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Among authors: curry cj. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: curry cj. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Among authors: curry cj. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.
Neonatal phenotype in Kabuki syndrome.
Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. Vaux KK, et al. Among authors: curry cj. Am J Med Genet A. 2005 Jan 30;132A(3):244-7. doi: 10.1002/ajmg.a.30336. Am J Med Genet A. 2005. PMID: 15690369
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: curry cj. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
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