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, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.PMID: 29100089 Free PMC article.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.PMID: 29097605 Free PMC article. Review.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ.Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print.PMID: 31646703
Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.PMID: 30682224 Free PMC article.
de Gusmao CM, Kok F, Casella EB, Waugh JL.Neurol Genet. 2015 Dec 22;2(1):e40. doi: 10.1212/NXG.0000000000000040. eCollection 2016 Feb.PMID: 27066577 Free PMC article.
Dy ME, Chang FC, Jesus SD, Anselm I, Mahant N, Zeilman P, Rodan LH, Foote KD, Tan WH, Eskandar E, Sharma N, Okun MS, Fung VS, Waugh JL.J Child Neurol. 2016 Jul;31(8):1027-35. doi: 10.1177/0883073816635749. Epub 2016 Apr 6.PMID: 27052971 Clinical Trial.
Waugh JL, Sharma N.Neurol Clin. 2013 Nov;31(4):969-86. doi: 10.1016/j.ncl.2013.04.002.PMID: 24176419 Review.
Aravamuthan BR, Waugh JL.Pediatr Neurol. 2016 Jan;54:11-21. doi: 10.1016/j.pediatrneurol.2015.10.005. Epub 2015 Oct 20.PMID: 26706479 Review.
Brüggemann N, Rosales RL, Waugh JL, Blood AJ, Domingo A, Heldmann M, Jamora RD, Münchau A, Münte TF, Lee LV, Buchmann I, Klein C.Eur J Neurol. 2017 May;24(5):680-686. doi: 10.1111/ene.13256. Epub 2017 Feb 25.PMID: 28236370
Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE.Pediatr Neurol. 2017 Oct;75:91-95. doi: 10.1016/j.pediatrneurol.2017.05.025. Epub 2017 Jun 2.PMID: 28838622 Free PMC article. Clinical Trial.
Aravamuthan BR, Waugh JL, Stone SS.Curr Opin Pediatr. 2017 Dec;29(6):691-696. doi: 10.1097/MOP.0000000000000548.PMID: 28906342 Review.
Wagner F, Titelbaum DS, Engisch R, Coskun EK, Waugh JL.Clin Neuroradiol. 2019 Jun;29(2):215-221. doi: 10.1007/s00062-018-0665-5. Epub 2018 Jan 29.PMID: 29379980
de Gusmao CM, Waugh JL.Semin Pediatr Neurol. 2018 Apr;25:42-53. doi: 10.1016/j.spen.2018.01.002. Epub 2018 Feb 23.PMID: 29735116 Review.
Blood AJ, Kuster JK, Waugh JL, Levenstein JM, Multhaupt-Buell TJ, Sudarsky LR, Breiter HC, Sharma N.Front Neurol. 2019 Apr 4;10:265. doi: 10.3389/fneur.2019.00265. eCollection 2019.PMID: 31019484 Free PMC article.
Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N.Neuroimage Clin. 2017 Oct 28;17:835-846. doi: 10.1016/j.nicl.2017.10.025. eCollection 2018.PMID: 29527488 Free PMC article.
Stredny CM, Waugh JL.Semin Pediatr Neurol. 2018 Apr;25:92-112. doi: 10.1016/j.spen.2017.12.006. Epub 2017 Dec 27.PMID: 29735121 Review.
Waugh JL.Pediatr Neurol. 2013 Jul;49(1):58-60. doi: 10.1016/j.pediatrneurol.2013.01.008. Epub 2013 May 16.PMID: 23683540
de Gusmão CM, Guerriero RM, Bernson-Leung ME, Pier D, Ibeziako PI, Bujoreanu S, Maski KP, Urion DK, Waugh JL.Pediatr Neurol. 2014 Aug;51(2):233-8. doi: 10.1016/j.pediatrneurol.2014.04.009. Epub 2014 Apr 15.PMID: 25079572
Guerriero RM, Pier DB, de Gusmão CM, Bernson-Leung ME, Maski KP, Urion DK, Waugh JL.Pediatr Neurol. 2014 Nov;51(5):619-23. doi: 10.1016/j.pediatrneurol.2014.07.011. Epub 2014 Jul 19.PMID: 25152961
Waugh JL.Neurology. 2014 Nov 11;83(20):1856-61. doi: 10.1212/WNL.0000000000000983. Epub 2014 Oct 8.PMID: 25298311
Waugh JL, Kuster JK, Levenstein JM, Makris N, Multhaupt-Buell TJ, Sudarsky LR, Breiter HC, Sharma N, Blood AJ.PLoS One. 2016 May 12;11(5):e0155302. doi: 10.1371/journal.pone.0155302. eCollection 2016.PMID: 27171035 Free PMC article.
Waugh JL, Dure LS.Neurology. 2019 Apr 23;92(17):779-780. doi: 10.1212/WNL.0000000000007353. Epub 2019 Apr 10.PMID: 30971488 No abstract available.
Waugh J, Prabhu SP, Bourgeois B, Kothare S.Neurology. 2011 Sep 13;77(11):e61-4. doi: 10.1212/WNL.0b013e31822e55f9.PMID: 21911732 No abstract available.
Waugh JL, Miller VS, Chudnow RS, Dowling MM.J Child Neurol. 2008 Jul;23(7):807-9. doi: 10.1177/0883073808314152.PMID: 18658080
Waugh J, Plumb P, Rollins N, Dowling MM.J Child Neurol. 2012 Mar;27(3):337-45. doi: 10.1177/0883073811421827. Epub 2011 Dec 21.PMID: 22190502 Free PMC article.
Waugh JL, Kuster JK, Makhlouf ML, Levenstein JM, Multhaupt-Buell TJ, Warfield SK, Sharma N, Blood AJ.Neuroimage. 2019 Apr 1;189:288-306. doi: 10.1016/j.neuroimage.2018.12.057. Epub 2019 Jan 3.PMID: 30611874 Free PMC article.
Waugh JL, Lou AC, Eisch AJ, Monteggia LM, Muly EC, Gold SJ.J Comp Neurol. 2005 Jan 17;481(3):299-313. doi: 10.1002/cne.20372.PMID: 15593368
Schwenk H, Ramirez-Avila L, Sheu SH, Wuthrich C, Waugh J, Was A, Degirolami U, Burchett S, Koralnik IJ, Ahmed A.Pediatr Infect Dis J. 2014 Apr;33(4):e99-105. doi: 10.1097/INF.0000000000000237.PMID: 24632669 Free PMC article. Review.
Gold SJ, Hoang CV, Potts BW, Porras G, Pioli E, Kim KW, Nadjar A, Qin C, LaHoste GJ, Li Q, Bioulac BH, Waugh JL, Gurevich E, Neve RL, Bezard E.J Neurosci. 2007 Dec 26;27(52):14338-48. doi: 10.1523/JNEUROSCI.4223-07.2007.PMID: 18160641 Free PMC article.
Waugh JL, Celver J, Sharma M, Dufresne RL, Terzi D, Risch SC, Fairbrother WG, Neve RL, Kane JP, Malloy MJ, Pullinger CR, Gu HF, Tsatsanis C, Hamilton SP, Gold SJ, Zachariou V, Kovoor A.PLoS One. 2011;6(11):e27984. doi: 10.1371/journal.pone.0027984. Epub 2011 Nov 23.PMID: 22132185 Free PMC article.
de Gusmao CM, Stone S, Waugh JL, Yang E, Lenk GM, Rodan LH.Mov Disord Clin Pract. 2019 Jun 21;6(6):494-497. doi: 10.1002/mdc3.12797. eCollection 2019 Jul.PMID: 31392254 Free PMC article. No abstract available.
Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL.J Child Neurol. 2020 Jun 23:883073820933739. doi: 10.1177/0883073820933739. Online ahead of print.PMID: 32576057 Free PMC article.
Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Pomeroy SL, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL; Child Neurology Society (Practice Committee and Executive Board) and the Pediatric Epilepsy Research Consortium (Infantile Spasms Special Interest Group and Steering Committee).Ann Neurol. 2020 May 22:10.1002/ana.25792. doi: 10.1002/ana.25792. Online ahead of print.PMID: 32445204 Free PMC article. No abstract available.