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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19.
Hum Mutat. 2020.
PMID: 31769566
Free PMC article.
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: bosanko kb.
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.
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An infant with ash-leaf and café au lait spots: a case of double phakomatosis.
Samanta D, Bosanko KB, Zarate YA.
Samanta D, et al. Among authors: bosanko kb.
Acta Neurol Belg. 2017 Mar;117(1):323-324. doi: 10.1007/s13760-016-0638-x. Epub 2016 Apr 4.
Acta Neurol Belg. 2017.
PMID: 27043227
No abstract available.
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Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America.
Murray A, Warren NS, Bosanko K, Williamson Dean L.
Murray A, et al.
J Genet Couns. 2020 Dec;29(6):1245-1258. doi: 10.1002/jgc4.1289. Epub 2020 May 30.
J Genet Couns. 2020.
PMID: 32472736
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