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bibliographicCitation Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V, Nelson SF, Grody WW, Lee H, Strom SP, Vilain E, Deignan J, Quintero-Rivera F, Kantarci S, Dorrani N, Mullegama S, Kang S, Szelinger S, Alejandro ME, Bacino CA, Balasubramanyam A, Burrage LC, Clark GD, Craigen WJ, Dhar SU, Emrick LT, Graham BH, Hanchard NA, Jain M, Lalani SR, Lee BH, Lewis RA, Mashid AS, Moretti PM, Nicholas SK, Orange JS, Posey JE, Potocki L, Rosenfeld JA, Scott DA, Tran AA, Bellen HJ, Wangler MF, Yamamoto S, Eng CM, Muzny DM, Ward PA, Yang Y, Gropman AL, Goldstein DB, Stong N, Jiang Y, McConkie-Rosell A, Pena LDM, Schoch K, Shashi V, Spillmann RC, Sullivan JA, Walley NM, Beggs AH, Briere LC, Cooper CM, Donnell-Fink LA, Krieg EL, Krier JB, Lincoln SA, Loscalzo J, Maas RL, MacRae CA, Pallais JC, Rodan LH, Silverman EK, Stoler JM, Sweetser DA, Walsh CA, Esteves C, Holm IA, Kohane IS, Mazur P, McCray AT, Might M, Ramoni RB, Splinter K, Bick DP, Birch CL, Boone BE, Brown DM, Dorset DC, Handley LH, Jacob HJ, Jones AL, Lazar J, Levy SE, Newberry JS, Schroeder MC, Strong KA, Worthey EA, Dayal JG, Eckstein DJ, Gould SE, Howerton EM, Krasnewich DM, Loomis CR, Mamounas LA, Manolio TA, Mulvihill JJ, Wise AL, Soldatos AG, Brush M, Gourdine JF, Haendel M, Koeller DM, Kyle JE, Metz TO, Waters KM, Webb-Robertson BM, Ashley EA, Bernstein JA, Dries AM, Fisher PG, Kohler JN, Waggott DM, Wheeler MT, Zornio PA, Allard P, Barseghyan H, Dell’Angelica EC, Dipple KM, Dorrani N, Herzog MR, Lee H, Nelson SF, Palmer CGS, Papp JC, Sinsheimer JS, Vilain E, Adams CJ, Burke EA, Chao KR, Davids M, Draper DD, Estwick T, Frisby TS, Frost K, Gartner V, Godfrey RA, Goheen M, Golas GA, Gordon M“G, Groden CA, Hackbarth ME, Hardee I, Johnston JM, Koehler AE, Latham L, Latour YL, Lau CC, Levy DJ, Liebendorder AP, Macnamara EF, Maduro VV, Markello TC, McCarty AJ, Murphy JL, Nehrebecky ME, Novacic D, Pusey BN, Sadozai S, Schaffer KE, Sharma P, Thomas SP, Tolman NJ, Toro C, Valivullah ZM, Wahl CE, Warburton M, Weech AA, Yu G, Adams DR, Gahl WA, Malicdan MCV, Tifft CJ, Wolfe LA, Lee PR, Postlethwait JH, Westerfield M, Bican A, Hamid R, Newman JH, Phillips JA, Robertson AK, Cogan JD. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. The American Journal of Human Genetics. 2017 Feb;100(2):343–51. doi: 10.1016/j.ajhg.2016.12.013.
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date 2017-02-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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title A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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