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Page 1
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. D'Gama AM, et al. Among authors: juusola j. Am J Med Genet A. 2020 Apr;182(4):780-784. doi: 10.1002/ajmg.a.61498. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022391
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: juusola j. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232
Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: juusola j. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Millan F, et al. Among authors: juusola j. Am J Med Genet A. 2016 Jul;170(7):1791-8. doi: 10.1002/ajmg.a.37670. Epub 2016 May 2. Am J Med Genet A. 2016. PMID: 27133397
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Revah-Politi A, et al. Among authors: juusola j. Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22. Am J Med Genet A. 2017. PMID: 28941020
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: juusola j. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Genetic counseling in industry settings: Opportunities in the era of precision health.
McWalter K, Cho MT, Hart T, Nusbaum R, Sebold C, Knapke S, Klein R, Friedman B, Willaert R, Singleton A, Williams L, Butler E, Juusola J. McWalter K, et al. Among authors: juusola j. Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):46-53. doi: 10.1002/ajmg.c.31606. Am J Med Genet C Semin Med Genet. 2018. PMID: 29675991
139 results