Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Name: Work Video:
Duration: 3 min 30 s
Ugur M. Ayturk; Javier Couto; Steven Hann; John B. Mulliken; Kaitlin L. Williams; August Yue Huang; Steven J. Fishman; Theonia K. Boyd; Harry P. Kozakewich; Joyce Bischoff; Arin K. Greene; Matthew L. Warman
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'https://openalex.org/W2187552273', 'https://openalex.org/W2227989665', 'https://openalex.org/W2253778221', 'https://openalex.org/W2277479479', 'https://openalex.org/W2302325329', 'https://openalex.org/W2403340109', 'https://openalex.org/W2429583906', 'https://openalex.org/W2503457448', 'https://openalex.org/W2504654478'], 'related_works': ['https://openalex.org/W3214034576', 'https://openalex.org/W3031433307', 'https://openalex.org/W2981822206', 'https://openalex.org/W2900116394', 'https://openalex.org/W2774011909', 'https://openalex.org/W2560458751', 'https://openalex.org/W2557541291', 'https://openalex.org/W2332593577', 'https://openalex.org/W2077517114', 'https://openalex.org/W2016712296'], 'abstract_inverted_index': {'Congenital': [0, 181, 362, 481, 746, 905, 4336], 'hemangioma': [1, 21, 31, 182, 202, 212, 668, 824, 906, 1428, 1445, 3933], 'is': [2, 163, 183, 344, 615, 1951, 2050, 2181, 2503, 2979, 3242, 3724, 4030, 4037, 4135, 4196], 'a': [3, 99, 184, 280, 401, 520, 549, 552, 564, 604, 672, 677, 785, 852, 911, 1173, 1239, 1347, 1438, 1516, 1519, 1709, 1735, 1745, 1807, 1965, 2026, 2064, 2379, 2407, 2593, 2962, 3359, 3412, 3419, 3658, 3875, 3931, 3946, 3955, 4210], 'rare': [4, 185, 365, 521], 'vascular': [5, 186, 366, 523, 640, 1418, 2303, 2440, 2549, 2770], 'tumor': [6, 13, 187, 194, 557, 597, 675], 'that': [7, 35, 62, 188, 216, 243, 368, 380, 829, 870, 954, 974, 1309, 1521, 1542, 1729, 1960, 2017, 2059, 2116, 2124, 2217, 2266, 2434, 2980, 2996, 3099, 3363, 3368, 3563, 3761, 4000, 4017, 4035, 4229], 'forms': [8, 189], 'in': [9, 70, 74, 95, 123, 165, 190, 251, 255, 276, 304, 346, 548, 621, 632, 702, 927, 972, 979, 1284, 1331, 1394, 1413, 1442, 1452, 1468, 1477, 1495, 1546, 1557, 1585, 1622, 1624, 1642, 1651, 1656, 1691, 1713, 1755, 1786, 1790, 1806, 1954, 2025, 2053, 2311, 2420, 2438, 2472, 2557, 2635, 2682, 2730, 2856, 2903, 2956, 2991, 3016, 3044, 3081, 3083, 3123, 3128, 3164, 3245, 3264, 3286, 3297, 3305, 3335, 3385, 3418, 3507, 3546, 3613, 3749, 3758, 3804, 3814, 3839, 3870, 3961, 3992, 4006, 4051, 4061, 4067, 4100, 4124, 4168, 4188, 4218, 4329], 'utero.': [10, 191], 'Postnatally,': [11, 192], 'the': [12, 90, 93, 193, 271, 274, 387, 596, 622, 793, 833, 874, 1028, 1067, 1089, 1133, 1142, 1324, 1332, 1354, 1443, 1453, 1478, 1523, 1740, 1756, 1955, 1976, 2018, 2054, 2075, 2117, 2125, 2218, 2244, 2249, 2333, 2382, 2404, 2421, 2428, 2727, 2860, 2904, 2981, 3101, 3652, 3728, 3744, 3815, 3962, 3966, 3969, 4001, 4040, 4129, 4152, 4156, 4163, 4169, 4181, 4189, 4202, 4221, 4250, 4253], 'either': [14, 195, 3292, 4010], 'involutes': [15, 196], 'quickly': [16, 197], '(i.e.,': [17, 28, 198, 209, 2984], 'rapidly': [18, 199, 381, 598, 848, 2008, 2107], 'involuting': [19, 200, 436, 458, 782, 849, 2009, 2108], 'congenital': [20, 30, 36, 145, 201, 211, 217, 326, 423, 437, 459, 503, 518, 667, 783, 823, 840, 850, 877, 1444, 2005, 2104, 2396, 2439, 3129, 3274, 3932, 3994, 4018, 4044], '[RICH])': [22, 203], 'or': [23, 72, 153, 160, 204, 253, 334, 341, 501, 593, 925, 951, 958, 1465, 1471, 1997, 2096, 2231, 2411, 3125, 3295, 3737, 3989, 4016, 4053, 4207, 4233], 'partially': [24, 205], 'regresses': [25, 206, 599, 629], 'and': [26, 43, 107, 115, 126, 147, 168, 207, 224, 288, 296, 307, 328, 349, 384, 428, 462, 546, 563, 572, 580, 611, 649, 654, 684, 700, 706, 718, 723, 739, 748, 790, 817, 821, 825, 838, 879, 915, 932, 961, 991, 1138, 1140, 1225, 1235, 1249, 1279, 1344, 1425, 1487, 1506, 1550, 1588, 1655, 1684, 1739, 1815, 1931, 1938, 1972, 1984, 2030, 2037, 2071, 2083, 2153, 2203, 2254, 2273, 2301, 2347, 2356, 2364, 2385, 2398, 2432, 2465, 2547, 2596, 2632, 2637, 2736, 2953, 2959, 2987, 2993, 3011, 3047, 3106, 3133, 3157, 3277, 3299, 3308, 3337, 3344, 3380, 3509, 3568, 3581, 3606, 3731, 3905, 4141, 4158, 4165, 4179, 4271, 4287, 4331], 'stabilizes': [27, 208], 'non-involuting': [29, 210, 2004, 2103], '[NICH]).': [32, 213], 'We': [33, 55, 88, 214, 236, 269, 868, 1002, 1017, 1191, 1298, 1321, 1352, 1401, 2122, 2156, 2214, 2367, 3953, 3981, 4246], 'hypothesized': [34, 215, 869], 'hemangiomas': [37, 218, 363, 379, 424, 747, 878, 2397, 2405, 4019, 4045], 'arise': [38, 219], 'due': [39, 220], 'to': [40, 86, 130, 221, 267, 311, 619, 854, 943, 962, 1011, 1062, 1088, 1410, 1459, 1527, 2210, 2258, 2332, 2373, 3273, 3726, 3755, 3984, 3998, 4057, 4214, 4220, 4226, 4255], 'somatic': [41, 222, 871, 1277, 1319, 1502, 1581, 1640, 1689, 1736, 1746, 2178, 2223, 2309, 2371, 2409, 2470, 2500, 2555, 3040, 3162, 3203, 3237, 3289, 3611, 3735, 3790, 3836, 4065, 4133, 4242], 'mutation': [42, 162, 223, 343, 1278, 1641, 1690, 1712, 1738, 1748, 1966, 2065, 2180, 2471, 2502, 2855, 2902, 2983, 3163, 3239, 3612, 3748], 'performed': [44, 225, 2157, 2276, 3941], 'massively': [45, 226, 886], 'parallel': [46, 227, 887], 'mRNA': [47, 228], 'sequencing': [48, 105, 229, 286, 888, 965, 1180, 1372, 1485, 2149, 2274], 'on': [49, 230, 889, 895, 993, 3945, 4137], 'affected': [50, 231, 980, 4170, 4203], 'tissue': [51, 232, 3948, 4171, 4204], 'from': [52, 84, 233, 265, 376, 590, 1370, 1416, 1995, 2094, 2132, 2229, 3197, 3374, 3784, 3874, 3913, 3950], 'eight': [53, 234, 1716, 1732, 2135, 2391], 'participants.': [54, 235], 'identified': [56, 120, 237, 301, 1236, 2221, 3259], 'mutually': [57, 238], 'exclusive,': [58, 239], 'mosaic': [59, 240, 2679, 2853, 4097], 'missense': [60, 117, 241, 298, 1540, 1711, 3564], 'mutations': [61, 94, 242, 275, 872, 883, 950, 971, 1014, 1503, 1541, 1582, 2126, 2219, 2310, 2417, 2556, 2634, 2681, 2725, 2768, 2811, 2955, 3013, 3041, 3120, 3260, 3290, 3334, 3384, 3543, 3565, 3739, 3811, 3838, 3869, 3991, 4048, 4066, 4099, 4134, 4228], 'alter': [63, 244, 1543], 'glutamine': [64, 245], 'at': [65, 78, 246, 259, 371, 934, 2207, 4162, 4209], 'amino': [66, 247], 'acid': [67, 248], '209': [68, 249, 1545, 3296], '(Gln209)': [69, 250], 'GNAQ': [71, 114, 152, 159, 252, 295, 333, 340, 1496, 1508, 1529, 1547, 1584, 1643, 1710, 1737, 1814, 2253, 2354, 2410, 2985, 3010, 3043, 3124, 3204, 3238, 3276, 3298, 3338, 3370, 3653, 3736, 3745, 3791, 3988, 4052, 4157, 4206, 4330], 'GNA11': [73, 116, 154, 161, 254, 297, 335, 342, 1536, 1551, 1623, 1747, 1816, 2255, 2357, 2412, 2988, 3012, 3082, 3126, 3278, 3300, 3336, 3362, 3386, 3738, 3990, 4159, 4208, 4332], 'all': [75, 256, 916], 'tested': [76, 257], 'samples,': [77, 258, 1788], 'variant': [79, 260, 1065, 1195, 1246, 1251, 1305, 1439], 'allele': [80, 261, 1252, 1306, 1770, 1782, 2375, 3957, 3977, 4161, 4183], 'frequencies': [81, 262, 2208, 2376, 4154], '(VAF)': [82, 263], 'ranging': [83, 264], '3%': [85, 266], '33%.': [87, 268], 'verified': [89, 270, 2216], 'presence': [91, 272], 'of': [92, 101, 273, 282, 431, 484, 606, 638, 666, 698, 709, 787, 792, 836, 876, 898, 996, 1086, 1241, 1367, 1386, 1396, 1434, 1475, 1489, 1559, 1583, 1715, 1731, 1758, 1944, 1948, 1981, 1986, 2043, 2047, 2080, 2085, 2134, 2233, 2252, 2381, 2403, 2430, 2726, 2944, 2964, 3042, 3104, 3369, 3377, 3411, 3649, 3734, 3908, 3959, 4003, 4014, 4043, 4131, 4139, 4143, 4155, 4223, 4252, 4342, 4350], 'genomic': [96, 277, 2245], 'DNA': [97, 278, 1179, 1820, 1932, 1939, 1991, 2031, 2038, 2090, 2131, 2227, 2246, 4166], 'using': [98, 279, 1254, 4224], 'combination': [100, 281, 2380], 'molecular': [102, 283, 2146], 'inversion': [103, 284, 2147], 'probe': [104, 285, 2148], '(MIP-seq)': [106, 287, 1933, 2032, 2150], 'digital': [108, 289, 2141], 'droplet': [109, 290, 2142], 'PCR': [110, 291, 1128, 2143, 2341], '(ddPCR).': [111, 292], 'The': [112, 157, 293, 338, 663, 893, 939, 1169, 1449, 1946, 2045, 2349, 3236, 4290], 'Gln209': [113, 155, 294, 336, 3122, 3569, 4050], 'variants': [118, 299, 1300, 1316, 1325, 1356, 1369, 1393, 1409, 1450, 1476, 1494, 1772, 1785, 2205, 2372], 'we': [119, 138, 300, 319, 1008, 1082, 1721, 1727, 2220, 2242, 2388, 3118, 3132, 3940, 4063, 4150, 4175], 'are': [121, 302, 364, 369, 374, 425, 586, 695, 812, 1988, 2000, 2087, 2099, 2222, 2306, 2435, 2552, 3014, 3200, 3339, 3787, 3935, 4247, 4296], 'common': [122, 303, 377, 1426, 3015], 'uveal': [124, 305, 1560, 1586, 1625, 3019, 3045, 3084, 3114, 3654, 3702], 'melanoma': [125, 306, 1587, 3046, 3655, 3703], 'have': [127, 308, 1554, 2374, 3258, 3279, 3301], 'been': [128, 309, 1555, 3303], 'shown': [129, 310, 3754], 'constitutively': [131, 312], 'activate': [132, 313, 3571], 'MAPK': [133, 314], 'and/or': [134, 315, 2145, 3000], 'YAP': [135, 316, 3650], 'signaling.': [136, 317], 'When': [137, 318, 1720], 'screened': [139, 320], 'additional': [140, 321], 'archival': [141, 322, 2392], 'formalin-fixed': [142, 323, 2393], 'paraffin-embedded': [143, 324, 2394], '(FFPE)': [144, 325, 2395], 'cutaneous': [146, 327, 522, 556, 837], 'hepatic': [148, 329], 'hemangiomas,': [149, 330, 3275, 3995], '4/8': [150, 331], 'had': [151, 332, 1734, 1744, 4176], 'variants.': [156, 337], 'same': [158, 339, 2982], 'found': [164, 345, 1412, 1440, 1451, 1728, 2419, 3244, 3304], 'both': [166, 347, 3570], 'NICH': [167, 348, 818, 3107], 'RICH,': [169, 350, 2007, 2106], 'so': [170, 351, 3577], 'other': [171, 352, 1454, 2302, 2548, 2997, 3134, 4215], 'factors': [172, 353, 3002, 3098], 'must': [173, 354], 'account': [174, 355], 'for': [175, 356, 386, 406, 881, 947, 968, 1176, 1482, 1708, 1813, 2248, 2353, 3112, 3202, 3361, 3789, 3937, 4028, 4173, 4240, 4249, 4292], 'these': [176, 357, 882, 1310, 1408, 3005], "tumors'": [177, 358], 'different': [178, 359, 375, 1639, 3579, 3583], 'postnatal': [179, 360, 3007, 3102], 'behaviors.': [180, 361], 'tumors': [367, 2771], 'present': [370, 2206, 3813], 'birth.': [372], 'They': [373], 'infantile': [378, 749, 1427], 'enlarge': [382], 'postnatally': [383], 'immunostain': [385], 'cell': [388], 'surface': [389], 'marker': [390, 405], 'GLUT1.1North': [391], 'P.E.': [392, 452, 516, 636, 645, 714, 1675, 2456, 2581, 3148, 3597], 'Waner': [393], 'M.': [394, 448, 512, 772, 1111, 1150, 1166, 1361, 2589, 2624, 2626, 2628, 2722, 2807, 2875, 2929, 3217, 3219, 3225, 3523, 3525, 3637, 3859], 'Mizeracki': [395], 'A.': [396, 859, 1049, 1097, 1148, 1154, 1158, 1203, 2583, 2795, 3451, 3645, 3899], 'Mihm': [397], 'Jr.,': [398], 'M.C.': [399, 1607, 3066], 'GLUT1:': [400], 'newly': [402], 'discovered': [403], 'immunohistochemical': [404], 'juvenile': [407], 'hemangiomas.Hum.': [408], 'Pathol.': [409, 466], '2000;': [410], '31:': [411], '11-22Abstract': [412], 'Full': [413, 491, 493, 759, 761, 801, 803, 2193, 2195, 2318, 2320, 2515, 2517, 2564, 2566, 2609, 2611, 2646, 2648, 2693, 2695, 2780, 2782, 2821, 2823, 2912, 2914, 3668, 3670, 3712, 3714, 4111, 4113], 'Text': [414, 492, 494, 760, 762, 802, 804, 2194, 2196, 2319, 2321, 2516, 2518, 2565, 2567, 2610, 2612, 2647, 2649, 2694, 2696, 2781, 2783, 2822, 2824, 2913, 2915, 3669, 3671, 3713, 3715, 4112, 4114], 'PDF': [415, 495, 763, 805, 2197, 2322, 2519, 2568, 2613, 2650, 2697, 2784, 2825, 2916, 3672, 3716, 4115, 4359], 'PubMed': [416, 470, 496, 530, 764, 806, 863, 1122, 1186, 1230, 1293, 1379, 1594, 1633, 1699, 2198, 2323, 2480, 2520, 2569, 2614, 2651, 2698, 2744, 2785, 2826, 2869, 2917, 2972, 3053, 3092, 3172, 3211, 3253, 3437, 3517, 3554, 3621, 3673, 3717, 3798, 3847, 3883, 3921, 4116], 'Scopus': [417, 471, 497, 531, 765, 807, 864, 1123, 1187, 1231, 1294, 1380, 1595, 1634, 1700, 2199, 2324, 2481, 2521, 2570, 2615, 2652, 2699, 2745, 2786, 2827, 2870, 2918, 2973, 3054, 3093, 3173, 3212, 3254, 3438, 3477, 3518, 3555, 3622, 3674, 3718, 3799, 3884, 3922, 4117], '(651)': [418], 'Google': [419, 473, 499, 533, 661, 730, 767, 809, 866, 1080, 1125, 1189, 1233, 1296, 1382, 1597, 1636, 1702, 2201, 2326, 2483, 2523, 2572, 2617, 2654, 2701, 2747, 2788, 2829, 2872, 2920, 2975, 3056, 3095, 3175, 3214, 3256, 3440, 3479, 3520, 3557, 3624, 3676, 3720, 3801, 3848, 3886, 3924, 4119], 'Scholar': [420, 500, 534, 662, 731, 810, 867, 1081, 1126, 1190, 1234, 1297, 1383, 1637, 1703, 2202, 2327, 2976, 3096, 3257, 3357, 3558, 3721, 3802, 3925, 4120], 'In': [421, 732, 3559, 4055], 'contrast,': [422], 'GLUT1': [426], 'negative': [427, 1791], 'display': [429], 'one': [430, 994], 'two': [432, 1742], 'clinical': [433, 461, 2595], 'patterns:': [434], '"rapidly': [435], 'hemangioma"': [438, 504], '(RICH)2Berenguer': [439], 'B.': [440, 1201, 1673, 2454, 2886, 3146, 3404, 3527, 3595], 'Mulliken': [441, 479, 507, 642, 648, 711, 717, 2171, 2493, 2578, 2668, 3187, 3774, 3828, 4086], 'J.B.': [442, 480, 508, 643, 704, 712, 743, 842, 2172, 2494, 2579, 2669, 2923, 3188, 3316, 3775, 3829, 4087], 'Enjolras': [443, 477, 744], 'O.': [444, 478, 506, 745], 'Boon': [445, 509, 2576, 2804, 2876], 'L.M.': [446, 476, 510, 2577, 2805, 2877], 'Wassef': [447, 511], 'Josset': [449], 'P.': [450, 1109, 3891], 'Burrows': [451, 515, 635, 644, 713, 2580], 'Perez-Atayde': [453], 'A.R.': [454], 'Kozakewich': [455, 513, 845, 2167, 2489, 2674, 4092], 'H.P.': [456, 514, 846, 2168, 2490, 2675, 4093], 'Rapidly': [457], 'hemangioma:': [460, 482, 519, 750, 851], 'histopathologic': [463], 'features.Pediatr.': [464], 'Dev.': [465], '2003;': [467, 2606], '6:': [468], '495-510Crossref': [469], '(264)': [472], 'Scholar,': [474, 768, 1598, 2484, 2524, 2573, 2618, 2655, 2702, 2748, 2789, 2830, 2873, 2921, 3057, 3176, 3215, 3441, 3480, 3521, 3625, 3677, 3849, 3887], '3Boon': [475], 'evidence': [483, 1707], 'accelerated': [485], 'involution.J.': [486], 'Pediatr.': [487, 2313, 2559], '1996;': [488, 2909], '128:': [489], '329-335Abstract': [490], '(302)': [498], '"non-involuting': [502], '(NICH).4Enjolras': [505], 'Noninvoluting': [517], 'anomaly.Plast.': [524], 'Reconstr.': [525, 3206, 3793, 3842], 'Surg.': [526, 3207, 3794, 3843], '2001;': [527], '107:': [528], '1647-1654Crossref': [529], '(265)': [532], 'RICH': [535, 569, 614, 735, 816, 2992, 3105], 'can': [536, 573, 736, 3371, 4237], 'be': [537, 574, 832, 1460, 3372, 3756, 4238], 'detected': [538, 4064], 'prenatally': [539], '(as': [540], 'early': [541], 'as': [542, 551, 631, 671, 1346, 1499, 2001, 2100, 2161, 2277, 4297], '12': [543, 1435, 1479], 'weeks': [544], 'gestation)': [545], 'presents': [547, 670], 'newborn': [550], 'raised,': [553], 'gray-violaceous': [554], 'solitary': [555], 'with': [558, 576, 676, 1015, 1094, 1130, 1146, 1197, 1238, 1301, 1357, 1462, 1466, 1535, 1658, 1723, 1780, 1784, 1964, 1968, 1975, 2063, 2067, 2074, 2183, 2339, 2345, 2505, 2859, 3271, 3283, 3341, 3367, 3421, 3582, 3867, 3877, 4047, 4069, 4073, 4198, 4280, 4335], 'fine': [559], 'telangiectasias,': [560], 'ectatic': [561], 'veins,': [562, 610], 'pale': [565, 680], 'halo': [566], '(Figure': [567, 624, 686, 819, 1399, 1718, 2442, 3979, 4146], '1).': [568, 687, 1448], 'demonstrates': [570], 'fast-flow': [571, 685], 'associated': [575, 1461, 1963, 2062, 2182, 2504, 2858, 3340, 3866, 4046], 'congestive': [577], 'cardiac': [578], 'failure': [579, 592], 'transient': [581], 'low-grade': [582], 'thrombocytopenia.': [583], 'If': [584], 'there': [585, 694], 'not': [587, 976, 1004, 1789, 1962, 2021, 2061, 2120, 3365, 3388, 4039, 4072], 'overwhelming': [588], 'complications': [589], 'heart': [591], 'hemorrhagic': [594], 'ulceration,': [595], 'by': [600, 884, 1286, 1326, 1406, 1688, 2129, 2224, 2256, 2308, 2469, 2554, 2600, 2899, 3161, 3383, 3610, 3651, 3705, 4262], '6–14': [601], 'months,': [602], 'leaving': [603], 'patch': [605], 'subcutaneous': [607], 'atrophy,': [608], 'dilated': [609], 'persistent': [612], 'fast-flow.': [613], 'also': [616, 1952, 2051, 2215, 2389, 3302], 'well': [617], 'documented': [618], 'occur': [620], 'liver': [623], '1),': [625], 'where': [626], 'it': [627, 3723], 'spontaneously': [628], 'just': [630], 'skin.5Fishman': [633], 'S.J.': [634, 647, 716, 2665, 4083], 'Treatment': [637], 'visceral': [639], 'tumors.in:': [641], 'Fishman': [646, 715, 2664, 4082], "Young's": [650, 719], 'Vascular': [651, 720], 'Anomalies:': [652, 721], 'Hemangiomas': [653, 722], 'Malformations.': [655, 724], 'Oxford': [656, 725], 'University': [657, 726], 'Press,': [658, 727], '2013:': [659, 728], '242-245Crossref': [660], 'second': [664], 'category': [665], '(NICH)': [669], 'well-circumscribed,': [673], 'plaque-like': [674], 'purple-pink': [678], 'hue,': [679], 'rim,': [681], 'coarse': [682], 'telangiectasia,': [683], 'It': [688], 'remains': [689], 'unchanged': [690], 'throughout': [691], 'childhood;': [692], 'however,': [693], 'uncommon': [696], 'examples': [697], 'growth': [699], 'expansion': [701], 'adolescence.6Mulliken': [703], 'Diagnosis': [705], 'natural': [707], 'history': [708], 'hemangiomas.in:': [710], '69-110Crossref': [729], 'some': [733, 4007], 'cases': [734, 789], 'cease': [737], 'regressing': [738], 'transform': [740], 'into': [741], 'NICH.7Mulliken': [742], 'missing': [751], 'links.J.': [752], 'Am.': [753, 795], 'Acad.': [754, 796], 'Dermatol.': [755, 797, 2642, 2776, 3349], '2004;': [756], '50:': [757], '875-882Abstract': [758], '(256)': [766], '8Nasseri': [769], 'E.': [770, 1152, 2622, 3851], 'Piram': [771], 'McCuaig': [773], 'C.C.': [774], 'Kokta': [775], 'V.': [776, 1565, 3024], 'Dubois': [777], 'J.': [778, 780, 844, 856, 1057, 1103, 1207, 1569, 1628, 1681, 1694, 2187, 2462, 2475, 2509, 2603, 2687, 2708, 2760, 2793, 2815, 2844, 2864, 2935, 3028, 3087, 3154, 3167, 3190, 3322, 3512, 3549, 3603, 3616, 3681, 3777, 3823, 3863, 4105], 'Powell': [779], 'Partially': [781], 'hemangiomas:': [784], 'report': [786], '8': [788, 1397], 'review': [791], 'literature.J.': [794], '2014;': [798, 3250, 3665, 3709], '70:': [799], '75-79Abstract': [800], '(103)': [808], 'There': [811], 'histopathological': [813], 'similarities': [814], 'between': [815, 822], '1)': [820], 'placental': [826, 834, 4041], 'chorangioma,': [827], 'suggesting': [828], 'chorangioma': [830, 2400, 4036], 'might': [831, 955, 3108, 3575], 'counterpart': [835, 4042], 'intrahepatic': [839], 'hemangioma.9Mulliken': [841], 'Bischoff': [843, 3189, 3776, 3862], 'Multifocal': [847], 'link': [853], 'chorangioma.Am.': [855], 'Med.': [857, 1629, 1695, 2476, 2865, 3088, 3168, 3513, 3550, 3617], 'Genet.': [858, 2189, 2511, 2605, 2689, 2740, 2817, 2968, 3249, 3917, 4107], '2007;': [860], '143A:': [861], '3038-3046Crossref': [862], '(24)': [865], 'initiate': [873], 'formation': [875], 'searched': [880], 'performing': [885], 'fresh': [890], 'frozen': [891], 'specimens.': [892], 'Committee': [894], 'Clinical': [896], 'Investigation': [897], 'Boston': [899], "Children's": [900], 'Hospital': [901], 'approved': [902], 'this': [903, 1403, 4125, 4256], 'study.': [904, 4126, 4257], 'samples': [907, 1446, 1717, 1733, 1743, 1959, 1992, 2058, 2091, 2136, 2247], 'were': [908, 922, 975, 984, 1009, 1457, 1961, 1993, 2060, 2092, 2127, 2275, 2330, 2343, 2362, 2418, 3812, 3982], 'collected': [909], 'during': [910, 3740], 'clinically': [912], 'indicated': [913, 3562], 'procedure,': [914], 'participants': [917, 2235, 4254], 'provided': [918], 'written': [919], 'consent.': [920], 'Tissues': [921], 'immediately': [923], 'flash-frozen': [924], 'placed': [926], 'RNAlater': [928], '(Thermo': [929], 'Fisher': [930], 'Scientific)': [931], 'stored': [933], '−80°C': [935], 'until': [936], 'further': [937, 1322, 1405, 4021], 'processing.': [938], 'original': [940], 'intent': [941], 'was': [942, 2020, 2119, 3753, 4009, 4122, 4185, 4260], 'perform': [944, 963, 1005], 'RNA-seq': [945, 982, 1025, 1117, 1414, 1455, 4121, 4225, 4236], 'looking': [946, 967], 'coding': [948, 969, 4243], 'sequence': [949, 970, 1391, 1533, 1774, 2337, 4244], 'genetic': [952, 1368, 2597], 'alterations': [953], 'produce': [956, 4230], 'chimeric': [957, 4234], 'miss-spliced': [959], 'transcripts': [960], 'whole-exome': [964], '(WES)': [966], 'genes': [973, 1388, 1436, 1481, 2431], 'highly': [977, 3017], 'expressed': [978], 'tissue.': [981], 'libraries': [983], 'prepared': [985], 'via': [986, 2137, 2236, 3578], 'standard': [987], 'Illumina': [988, 998], 'TruSeq': [989], 'protocols': [990], 'sequenced': [992], 'flowcell': [995], 'an': [997, 2138, 2263, 2733, 2900, 4058], 'HiSeq': [999], '2500': [1000], 'system.': [1001], 'did': [1003], 'WES': [1006, 4070], 'because': [1007], 'able': [1010], 'successfully': [1012], 'identify': [1013, 3985], 'RNA-seq.': [1016], 'generated': [1018], '32–47': [1019], 'million': [1020], '100-bp': [1021], 'paired-end': [1022], 'reads': [1023, 1087, 1134, 2329], 'per': [1024], 'library.': [1026], 'Following': [1027], 'Genome': [1029, 1068, 1170, 1217], 'Analysis': [1030, 1069, 1171, 1757], 'Toolkit': [1031, 1070], '(GATK)': [1032], 'best': [1033, 1071], 'practices': [1034, 1072], 'workflow,10Van': [1035], 'der': [1036], 'Auwera': [1037], 'G.A.': [1038], 'Carneiro': [1039], 'M.O.': [1040], 'Hartl': [1041], 'C.': [1042, 1105, 2630, 2797], 'Poplin': [1043], 'R.': [1044, 1215, 2288, 2534, 2587, 2801, 3318, 3631], 'Del': [1045], 'Angel': [1046], 'G.': [1047, 1211, 1213, 1567, 1617, 3026, 3076, 3643, 3685, 3693], 'Levy-Moonshine': [1048], 'Jordan': [1050], 'T.': [1051, 1205, 1611, 3070, 3398, 3445, 3492], 'Shakir': [1052], 'K.': [1053, 1156, 1160, 1359, 2842, 3895], 'Roazen': [1054], 'D.': [1055, 1162, 1262, 2704, 2764, 2848, 2931], 'Thibault': [1056], 'et': [1058, 1620, 2299, 2545, 2723, 2851, 2895, 2942, 3079, 3331, 3409, 3646, 3698, 4338], 'al.From': [1059], 'FastQ': [1060], 'data': [1061, 1415, 3268, 4033, 4293], 'high': [1063], 'confidence': [1064], 'calls:': [1066], 'pipeline.Curr.': [1073], 'Protoc.': [1074], 'Bioinformatics.': [1075], '2013;': [1076, 1119, 1696, 2477, 3169, 3514, 3551, 3618], '11': [1077], '(1,': [1078], '33)PubMed': [1079], 'mapped': [1083, 2331], 'each': [1084], 'set': [1085], 'reference': [1090, 2334], 'human': [1091, 2335], 'genome': [1092, 2336], '(GRCh37)': [1093, 2338], 'STAR': [1095], 'aligner,11Dobin': [1096], 'Davis': [1098], 'C.A.': [1099, 1268], 'Schlesinger': [1100], 'F.': [1101], 'Drenkow': [1102], 'Zaleski': [1104], 'Jha': [1106], 'S.': [1107, 1164, 1609, 2585, 2716, 3068, 3330, 3529, 3539, 3853], 'Batut': [1108], 'Chaisson': [1110], 'Gingeras': [1112], 'T.R.': [1113], 'STAR:': [1114], 'ultrafast': [1115], 'universal': [1116], 'aligner.Bioinformatics.': [1118], '29:': [1120], '15-21Crossref': [1121], '(19220)': [1124], 'removed': [1127, 1299, 2344], 'duplicates': [1129, 2342], 'Picard,': [1131], 'realigned': [1132], 'around': [1135], 'small': [1136], 'insertions': [1137], 'deletions,': [1139], 'recalibrated': [1141], 'base': [1143], 'quality': [1144], 'scores': [1145], 'GATK.12McKenna': [1147], 'Hanna': [1149], 'Banks': [1151], 'Sivachenko': [1153], 'Cibulskis': [1155], 'Kernytsky': [1157], 'Garimella': [1159], 'Altshuler': [1161], 'Gabriel': [1163, 3538], 'Daly': [1165, 3536], 'DePristo': [1167], 'M.A.': [1168, 3402, 3453, 3482], 'Toolkit:': [1172], 'MapReduce': [1174], 'framework': [1175], 'analyzing': [1177], 'next-generation': [1178], 'data.Genome': [1181], 'Res.': [1182, 1289, 1375, 3430, 3470], '2010;': [1183, 1376, 1630, 3089], '20:': [1184], '1297-1303Crossref': [1185], '(14799)': [1188], 'then': [1192], 'compiled': [1193], 'single-nucleotide': [1194], 'lists': [1196], 'Samtools13Li': [1198], 'H.': [1199, 1363, 1665, 2446, 3138, 3221, 3231, 3233, 3326, 3499, 3541, 3587, 3695], 'Handsaker': [1200], 'Wysoker': [1202], 'Fennell': [1204], 'Ruan': [1206], 'Homer': [1208], 'N.': [1209, 1619, 2282, 2528, 2791, 3078, 3184, 3229, 3235, 3400, 3449, 3494, 3771], 'Marth': [1210], 'Abecasis': [1212], 'Durbin': [1214], '1000': [1216, 1337], 'Project': [1218, 4313], 'Data': [1219], 'Processing': [1220], 'SubgroupThe': [1221], 'Sequence': [1222], 'Alignment/Map': [1223], 'format': [1224], 'SAMtools.Bioinformatics.': [1226], '2009;': [1227, 1591, 3050], '25:': [1228, 3666, 3710], '2078-2079Crossref': [1229], '(31615)': [1232], 'positions': [1237], 'minimum': [1240, 2350], '20×': [1242, 1761], 'read': [1243, 1247, 1762, 1766, 1936, 1982, 2035, 2081, 2351], 'depth,': [1244, 1248, 1763, 1767, 1937, 2036], '3×': [1245, 1764], '10%': [1250, 1768], 'frequency': [1253, 3958, 3978, 4002, 4142, 4184], 'VarScan.14Koboldt': [1255], 'D.C.': [1256], 'Zhang': [1257], 'Q.': [1258], 'Larson': [1259], 'D.E.': [1260, 3893], 'Shen': [1261], 'McLellan': [1263], 'M.D.': [1264, 1663, 2444, 3136, 3585], 'Lin': [1265], 'L.': [1266, 1272, 1571, 2620, 2803, 2850, 3030, 3180, 3320, 3328, 3691, 3767], 'Miller': [1267], 'Mardis': [1269], 'E.R.': [1270], 'Ding': [1271], 'Wilson': [1273], 'R.K.': [1274], 'VarScan': [1275], '2:': [1276], 'copy': [1280], 'number': [1281, 1943, 1985, 2042, 2084], 'alteration': [1282], 'discovery': [1283], 'cancer': [1285, 2738], 'exome': [1287], 'sequencing.Genome': [1288], '2012;': [1290, 2690, 2969, 4108], '22:': [1291], '568-576Crossref': [1292], '(2945)': [1295], 'greater': [1302, 4211], 'than': [1303, 1318, 3974], '40%': [1304], 'frequency,': [1307], 'assuming': [1308], 'changes': [1311], 'most': [1312], 'likely': [1313, 1500, 2408], 'represent': [1314, 2211], 'germline': [1315, 2952], 'rather': [1317], 'changes.': [1320], 'filtered': [1323], 'removing': [1327], 'those': [1328, 1411], 'previously': [1329, 2162, 2278], 'reported': [1330, 1556], 'Exome': [1333, 1340, 4311, 4315], 'Variant': [1334, 4316], 'Server': [1335], '(ESP6500),': [1336], 'Genomes': [1338], 'Project,': [1339], 'Aggregation': [1341], 'Consortium': [1342], '(v.0.3),': [1343], 'dbSNP': [1345], 'non-clinical': [1348], 'entry': [1349], '(build': [1350], '138).': [1351], 'annotated': [1353], 'remaining': [1355, 1480, 1741, 3970], 'ANNOVAR.15Wang': [1358], 'Li': [1360, 2707], 'Hakonarson': [1362], 'ANNOVAR:': [1364], 'functional': [1365, 3280, 3284], 'annotation': [1366], 'high-throughput': [1371], 'data.Nucleic': [1373], 'Acids': [1374], '38:': [1377], 'e164Crossref': [1378], '(7883)': [1381], 'A': [1384, 1432, 1638, 2177, 2499], 'total': [1385, 1433], '43': [1387], 'exhibited': [1389], 'protein': [1390, 1513, 1532], 'altering': [1392, 3566, 4049], '≥3': [1395, 1787], 'specimens': [1398, 4008, 4172], 'S1).': [1400, 1507, 1719], 'narrowed': [1402], 'list': [1404], 'comparing': [1407], 'unrelated': [1417], 'lesions': [1419], '(arteriovenous': [1420], 'malformation': [1421], '[n': [1422, 1429], '=': [1423, 1430], '3]': [1424], '1]).': [1431], 'contained': [1437, 2406], 'only': [1441, 1493, 3127, 3263], '(Table': [1447, 1749, 2151, 2159, 2238, 2260, 2423, 4191], 'datasets': [1456], 'assumed': [1458], 'RNA': [1463, 2029, 4164, 4178, 4190], 'editing': [1464], 'errors': [1467], 'sequencing,': [1469], 'mapping,': [1470], 'annotation.': [1472], 'Close': [1473], 'inspection': [1474], 'potential': [1483], 'mismapping,': [1484], 'errors,': [1486], 'lack': [1488], 'evolutionary': [1490], 'conservation': [1491], 'left': [1492], '(MIM:': [1497, 1537, 1661, 3809], '600998)': [1498], 'true-positive': [1501], '(Tables': [1504], '2': [1505, 2152, 3426, 3466], 'encodes': [1509], 'guanine': [1510], 'nucleotide': [1511], 'binding': [1512], 'G(q)': [1514], 'alpha,': [1515], 'subunit': [1517, 3505], 'within': [1518, 3930, 3965, 4201], 'complex': [1520], 'hydrolyzes': [1522], 'intracellular': [1524], 'messenger': [1525], 'GTP': [1526], 'GDP.': [1528], 'shares': [1530], '90%': [1531], 'similarity': [1534], '139313).': [1538], 'Somatic': [1539, 2678, 2765, 2808, 4096, 4326], 'codon': [1544, 3293], '(GenBank:': [1548, 1552], 'NP_002063.2)': [1549], 'NP_002058.2)': [1553], '>80%': [1558], 'melanomas.16Van': [1561], 'Raamsdonk': [1562, 1600, 3021, 3059], 'C.D.': [1563, 1601, 3022, 3060], 'Bezrookove': [1564, 3023], 'Green': [1566, 1616, 3025, 3075], 'Bauer': [1568, 3027], 'Gaugler': [1570, 3029], "O'Brien": [1572, 3031], 'J.M.': [1573, 2758, 3032], 'Simpson': [1574, 3033], 'E.M.': [1575, 2840, 3034], 'Barsh': [1576, 3035], 'G.S.': [1577, 3036], 'Bastian': [1578, 3037], 'B.C.': [1579, 3038], 'Frequent': [1580, 3039], 'blue': [1589, 3048], 'naevi.Nature.': [1590, 3049], '457:': [1592, 3051], '599-602Crossref': [1593, 3052], '(1142)': [1596, 3055], '17Van': [1599, 3058], 'Griewank': [1602, 3061], 'K.G.': [1603, 3062], 'Crosby': [1604, 3063], 'M.B.': [1605, 3064], 'Garrido': [1606, 3065], 'Vemula': [1608, 3067], 'Wiesner': [1610, 3069], 'Obenauf': [1612, 3071], 'A.C.': [1613, 3072, 3312], 'Wackernagel': [1614, 3073], 'W.': [1615, 2286, 2532, 3074, 3697], 'Bouvier': [1618, 3077], 'al.Mutations': [1621, 3080], 'melanoma.N.': [1626, 3085], 'Engl.': [1627, 1693, 2474, 2863, 3086, 3166, 3511, 3548, 3615], '363:': [1631, 3090], '2191-2199Crossref': [1632, 3091], '(1071)': [1635, 3094], '(GRCh37;': [1644], 'GenBank:': [1645, 2360], 'NM_002072.4,': [1646], 'NP_002063.2;': [1647], 'c.548G>A': [1648, 3240, 3746], '[p.Arg183Gln])': [1649], 'occurs': [1650, 2990], 'isolated': [1652, 3912], 'capillary': [1653, 3198, 3265, 3751, 3785], 'malformations': [1654, 3199, 3752, 3786, 3806], 'individuals': [1657], 'Sturge-Weber': [1659, 1682, 2463, 3155, 3246, 3604], 'syndrome': [1660, 1683, 2464, 3156, 3605], '185300).18Shirley': [1662], 'Tang': [1664, 2445, 3137, 3586], 'Gallione': [1666, 2447, 3139, 3588], 'C.J.': [1667, 2294, 2448, 2540, 2754, 3140, 3589], 'Baugher': [1668, 2449, 3141, 3590], 'J.D.': [1669, 2450, 3142, 3591], 'Frelin': [1670, 2451, 3143, 3592], 'L.P.': [1671, 2452, 3144, 3593], 'Cohen': [1672, 2453, 3145, 3594], 'North': [1674, 2455, 3147, 3596], 'Marchuk': [1676, 2457, 2889, 3149, 3598], 'D.A.': [1677, 2458, 2890, 3150, 3599], 'Comi': [1678, 2459, 3151, 3600], 'A.M.': [1679, 2460, 3152, 3601], 'Pevsner': [1680, 2461, 3153, 3602], 'port-wine': [1685, 2466, 3158, 3607], 'stains': [1686, 2467, 3159, 3608], 'caused': [1687, 2307, 2468, 2553, 2599, 2898, 3160, 3382, 3609], 'GNAQ.N.': [1692, 2473, 3165, 3614], '368:': [1697, 2478, 3170, 3515, 3552, 3619], '1971-1979Crossref': [1698, 2479, 3171, 3620], '(641)': [1701, 2482, 3174, 3623], 'Stringent': [1704], 'filtering': [1705], 'revealed': [1706], 'three': [1714], 'reanalyzed': [1722], 'less': [1724, 3973], 'stringent': [1725], 'filtering,': [1726], 'six': [1730, 2133], '2).Table': [1750], '1Variant': [1751], 'Filtering': [1752], 'Strategy': [1753], 'Employed': [1754], 'RNA-Seq': [1759], 'DataParticipant12345678AverageMin': [1760], 'var': [1765, 1769], 'freq56,33149,04740,44038,34837,67232,47339,38026,90040,074Known': [1771], 'filtered24,33318,45412,67112,89311,75610,20611,2369,57013,890Coding': [1773], 'variants279208234253241276261348263Nonsynonymous': [1775], 'variants172120144138134155164221156Variants': [1776], 'without': [1777], 'strand': [1778], 'bias133839410599114110167113Variants': [1779], '<40%': [1781], 'freq9362579270928713987Genes': [1783], 'controlsATN1,': [1792], 'B3GNT2,': [1793], 'GNAQ,': [1794], 'IL13RA1,': [1795], 'NBPF11,': [1796], 'PLEKHO1,': [1797], 'SMC4,': [1798], 'SSC5D,': [1799], 'TBX3,': [1800], 'TCF7L2,': [1801], 'TCHP,': [1802], 'POLR2J2/UPK3BL12': [1803], 'Open': [1804, 2023, 4360], 'table': [1805, 2024], 'new': [1808, 2027, 2594, 3110], 'tab': [1809, 2028], 'Table': [1810], '2Participants': [1811], 'Screened': [1812], 'VariantsParticipantPhenotypeAgeSexLocationSourceVariantRNADNA': [1817], '(MIP-seq)DNA': [1818], '(ddPCR)Control': [1819], '(ddPCR)1NICH8': [1821], 'yearsmalechestfrozen': [1822], 'tissueGNAQ': [1823, 1830, 1845, 1852, 1865, 1871, 1877, 1890], 'p.Gln209Leu': [1824, 1838, 1846, 1853, 1859, 1872, 1891, 1912, 1917], '(c.626A>T)2/6': [1825], '(33%)–101/1,853': [1826], '(5%)0/1,499': [1827], '(0%)2NICH9': [1828], 'yearsmaleneckfrozen': [1829, 1857], 'p.Gln209Pro': [1831, 1878], '(c.626A>C)1/10': [1832], '(10%)–392/6,061': [1833], '(6%)0/2,215': [1834], '(0%)3NICH14': [1835], 'yearsfemaletemplefrozen': [1836], 'tissueGNA11': [1837, 1858, 1911, 1916], '(c.626A>T)15/124': [1839], '(12%)13/211': [1840], '(6%)84/1,042': [1841], '(8%)0/2,498': [1842], '(0%)4NICH5': [1843], 'yearsmalenosefrozen': [1844, 1851], '(c.626A>T)3/15': [1847], '(20%)–235/3,233': [1848], '(7%)0/2,359': [1849], '(0%)5NICH7': [1850], '(c.626A>T)7/51': [1854], '(14%)–61/759': [1855], '(8%)–6NICH2.5': [1856], '(c.626A>T)3/103': [1860], '(3%)–15/633': [1861], '(2%)–7RICH3': [1862], 'yearsmalelower': [1863, 1875, 1904], 'extremityfrozen': [1864], 'p.Gln209His': [1866], '(c.627A>C)7/30': [1867], '(23%)–––8RICH1': [1868], 'weekmaleorbital': [1869], 'areafrozen': [1870], '(c.626A>T)6/31': [1873], '(19%)–––9NICH12': [1874], 'extremityFFPE': [1876, 1883, 1889, 1899, 1905, 1910], '(c.626A>C)–1139/19,657': [1879], '(6%)125/1,089': [1880], '(11%)–10NICH14': [1881], 'monthsmalelower': [1882, 1888], 'tissueNA–3/1,383': [1884], '(<': [1885, 1896, 1901, 1923, 1926, 1929], '1%)0/640': [1886], '(0%)–11RICH3': [1887], '(c.626A>T)–-26/717': [1892], '(4%)–12NICH3': [1893], 'yearsmaleearFFPE': [1894], 'tissueNA–1/400': [1895], '1%)-–13RICH2': [1897], 'weeksfemaleupper': [1898], 'tissueNA–2/772': [1900], '1%)0/516': [1902], '(0%)–14NICH2': [1903], 'tissueNA–2/179': [1906], '(1%)0/152': [1907], '(0%)–15RICH2': [1908], 'weeksmalelower': [1909], '(c.626A>T)––27/2,576': [1913], '(1%)–16RICH4': [1914], 'monthsmaleliverFFPE': [1915], '(c.626A>T)––52/537': [1918], '(10%)–17CHORneonatalfemaleplacentaFFPE': [1919], 'tissueNA–0/850': [1920], '(0%)––18CHORneonatalfemaleplacentaFFPE': [1921], 'tissueNA–3/1,855': [1922], '1%)––19CHORneonatalfemaleplacentaFFPE': [1924], 'tissueNA–3/1,875': [1925], '1%)––20CHORneonatalfemaleplacentaFFPE': [1927], 'tissueNA–7/2,233': [1928], '1%)––RNA': [1930], 'columns': [1934, 2033], 'indicate': [1935, 2034, 3269, 4034], '(ddPCR)': [1940, 2039], 'column': [1941, 2040], 'indicates': [1942, 2016, 2041, 2115], 'droplets.': [1945, 2044], 'rate': [1947, 2046], 'variant/total': [1949, 2048], 'alleles': [1950, 2049, 2433, 3904], 'depicted': [1953, 2052], 'aforementioned': [1956, 2055, 2383], 'columns.': [1957, 2056], 'For': [1958, 2057, 2240, 3742, 4127], '(indicated': [1967, 2066], 'NA),': [1969, 2068], 'available': [1970, 2069], 'MIP-seq': [1971, 2070, 2386], 'ddPCR': [1973, 2072, 2158, 2237, 2384], 'results': [1974, 2073], 'lowest': [1977, 2076], 'power': [1978, 2077], '(in': [1979, 2078], 'terms': [1980, 2079], 'depth': [1983, 2082, 4138], 'droplets)': [1987, 2086], 'depicted.': [1989, 2088], 'Control': [1990, 2089], 'retrieved': [1994, 2093], 'blood': [1996, 2095, 2230, 3763], 'saliva.': [1998, 2097], 'Abbreviations': [1999, 2098], 'follows:': [2002, 2101], 'NICH,': [2003, 2102, 2994], 'hemangioma;': [2006, 2011, 2105, 2110], 'congential': [2010, 2109], 'CHOR,': [2012, 2111], 'chorangioma.': [2013, 2112], 'Dash': [2014, 2113], '(–)': [2015, 2114], 'assay': [2019, 2118], 'performed.': [2022, 2121], 'confirmed': [2123], 'real': [2128], 'testing': [2130, 2225], 'orthologous': [2139], 'method,': [2140], '(ddPCR),': [2144], 'Figure': [2154], '2).': [2155, 2239, 2424, 4192], 'S2)': [2160], 'described19Couto': [2163], 'J.A.': [2164, 2486, 2937, 3178, 3765, 3819], 'Vivero': [2165, 2283, 2487, 2529, 3181, 3768, 3820], 'M.P.': [2166, 2284, 2488, 2530, 3182, 3769, 3821], 'Taghinia': [2169, 2491], 'A.H.': [2170, 2492], 'Warman': [2173, 2495, 2676, 2891, 3191, 3778, 3826, 3860, 4094], 'M.L.': [2174, 2496, 2677, 2892, 3192, 3779, 3827, 3861, 4095], 'Greene': [2175, 2297, 2497, 2543, 3193, 3780, 3830, 3856], 'A.K.': [2176, 2298, 2498, 2544, 3194, 3781, 3831, 3857], 'MAP3K3': [2179, 2501], 'verrucous': [2184, 2506], 'venous': [2185, 2507, 2813], 'malformation.Am.': [2186, 2508, 2814], 'Hum.': [2188, 2510, 2604, 2688, 2816, 3248, 4106], '2015;': [2190, 2314, 2512, 2560, 2777, 2818, 3844, 3880, 3918], '96:': [2191, 2513], '480-486Abstract': [2192, 2514], '(77)': [2200, 2522], 'considered': [2204, 2368], '≥1%': [2209], 'true': [2212, 2369], 'positives.': [2213], 'control': [2226], '(extracted': [2228], 'saliva)': [2232], 'four': [2234, 2399], 'MIP-seq,': [2241], 'enriched': [2243, 3201, 3757, 3788, 3936], 'protein-coding': [2250], 'sequences': [2251], 'hybridization': [2257], 'probes': [2259], 'S3)': [2261], 'containing': [2262], '8-nucleotide': [2264], 'barcode': [2265], 'uniquely': [2267], 'identifies': [2268], 'individual': [2269], 'MIPs.': [2270], 'MIP': [2271], 'capture': [2272, 3943], 'described.20Luks': [2279], 'V.L.': [2280, 2526, 2659, 3855, 4077], 'Kamitaki': [2281, 2527, 3183, 3770], 'Uller': [2285, 2531], 'Rab': [2287, 2533], 'Bovée': [2289, 2535], 'J.V.': [2290, 2536], 'Rialon': [2291, 2537], 'K.L.': [2292, 2538, 2880], 'Guevara': [2293, 2539], 'Alomari': [2295, 2541, 2662, 4080], 'A.I.': [2296, 2542, 2663, 4081], 'al.Lymphatic': [2300, 2546], 'malformative/overgrowth': [2304, 2550], 'disorders': [2305, 2551], 'PIK3CA.J.': [2312, 2558], '166': [2315, 2561], '(1048–54.e1,': [2316, 2562], '5)Abstract': [2317, 2563], '(313)': [2325, 2571], 'Raw': [2328], 'BWA;': [2340], 'FastqMcf': [2346], 'Picard.': [2348], 'depths': [2352], 'c.626A>T': [2355, 2358, 2986], '(GRCh37,': [2359], 'NM_002067.4)': [2361], '2,032×': [2363], '179×,': [2365], 'respectively.': [2366], 'positive': [2370], '>2%.': [2377], 'Using': [2378], 'assays,': [2387], 'analyzed': [2390], 'samples.': [2401], 'Four': [2402], 'mutation,': [2413, 3416, 3459], 'whereas': [2414, 3131, 3803, 3968], 'no': [2415], 'such': [2416], 'chorangiomas': [2422, 4029], 'Our': [2425, 3267], 'findings': [2426], 'expand': [2427], 'spectrum': [2429, 2963], 'somatically': [2436], 'altered': [2437], 'anomalies': [2441], 'S2).18Shirley': [2443], '19Couto': [2485], '20Luks': [2525], '21Eerola': [2574], 'I.': [2575], 'Dompmartin': [2582], 'Watanabe': [2584], 'Vanwijck': [2586], 'Vikkula': [2588, 2806], 'Capillary': [2590], 'malformation-arteriovenous': [2591], 'malformation,': [2592], 'disorder': [2598], 'RASA1': [2601], 'mutations.Am.': [2602], '73:': [2607], '1240-1249Abstract': [2608], '(501)': [2616], '22Groesser': [2619], 'Peterhof': [2621], 'Evert': [2623], 'Landthaler': [2625], 'Berneburg': [2627], 'Hafner': [2629], 'BRAF': [2631], 'RAS': [2633, 2767], 'sporadic': [2636, 3750], 'secondary': [2638], 'pyogenic': [2639, 2773], 'granuloma.J.': [2640, 2774], 'Invest.': [2641, 2775, 3348], '2016;': [2643, 3208, 3350, 3431, 3471, 3795], '136:': [2644, 3845], '481-486Abstract': [2645], '(71)': [2653, 3213, 3800], '23Kurek': [2656], 'K.C.': [2657, 4075], 'Luks': [2658, 3854, 4076], 'Ayturk': [2660, 4078], 'U.M.': [2661, 4079], 'Spencer': [2666, 4084], 'S.A.': [2667, 3396, 3486, 4085], 'Bowen': [2670, 4088], 'M.E.': [2671, 4089], 'Yamamoto': [2672, 4090], 'G.L.': [2673, 4091], 'activating': [2680, 2766, 2809, 2854, 2901, 3333, 3706, 3807, 4098], 'PIK3CA': [2683, 2810, 2960, 3808, 3837, 3903, 4068, 4101], 'cause': [2684, 2769, 2812, 2961, 4102], 'CLOVES': [2685, 4103], 'syndrome.Am.': [2686, 4104], '90:': [2691, 4109], '1108-1115Abstract': [2692, 4110], '(345)': [2700, 4118], '24Liaw': [2703], 'Marsh': [2705], 'D.J.': [2706, 3324], 'Dahia': [2709], 'P.L.': [2710], 'Wang': [2711], 'S.I.': [2712], 'Zheng': [2713], 'Z.': [2714, 3314, 3689], 'Bose': [2715], 'Call': [2717], 'K.M.': [2718, 3531], 'Tsou': [2719], 'H.C.': [2720], 'Peacocke': [2721], 'al.Germline': [2724], 'PTEN': [2728], 'gene': [2729], 'Cowden': [2731], 'disease,': [2732], 'inherited': [2734, 3378], 'breast': [2735], 'thyroid': [2737], 'syndrome.Nat.': [2739], '1997;': [2741], '16:': [2742], '64-67Crossref': [2743], '(1694)': [2746], '25Lim': [2749], 'Y.H.': [2750], 'Douglas': [2751], 'S.R.': [2752], 'Ko': [2753], 'Antaya': [2755], 'R.J.': [2756], 'McNiff': [2757], 'Zhou': [2759], 'Choate': [2761], 'K.A.': [2762, 2888, 3897], 'Narayan': [2763], 'including': [2772], '135:': [2778], '1698-1700Abstract': [2779], '(52)': [2787], '26Limaye': [2790], 'Kangas': [2792], 'Mendola': [2794], 'Godfraind': [2796], 'Schlögel': [2798], 'M.J.': [2799, 2832, 3537], 'Helaers': [2800], 'Eklund': [2802], '97:': [2819], '914-921Abstract': [2820], '(175)': [2828], '27Lindhurst': [2831], 'Sapp': [2833], 'J.C.': [2834, 3406], 'Teer': [2835], 'J.K.': [2836], 'Johnston': [2837], 'J.J.': [2838], 'Finn': [2839], 'Peters': [2841], 'Turner': [2843], 'Cannons': [2845], 'J.L.': [2846], 'Bick': [2847], 'Blakemore': [2849], 'al.A': [2852], 'AKT1': [2857], 'Proteus': [2861], 'syndrome.N.': [2862], '2011;': [2866], '365:': [2867], '611-619Crossref': [2868], '(625)': [2871], '28Vikkula': [2874], 'Carraway': [2878], '3rd,': [2879, 3498], 'Calvert': [2881], 'J.T.': [2882], 'Diamonti': [2883], 'A.J.': [2884, 3889], 'Goumnerov': [2885], 'Pasyk': [2887], 'Cantley': [2893], 'L.C.': [2894], 'al.Vascular': [2896], 'dysmorphogenesis': [2897], 'receptor': [2905], 'tyrosine': [2906], 'kinase': [2907], 'TIE2.Cell.': [2908], '87:': [2910], '1181-1190Abstract': [2911], '(606)': [2919], '29Rivière': [2922], 'Mirzaa': [2924], 'G.M.': [2925], "O'Roak": [2926], 'B.J.': [2927], 'Beddaoui': [2928], 'Alcantara': [2930], 'Conway': [2932], 'R.L.': [2933], 'St-Onge': [2934, 3321], 'Schwartzentruber': [2936], 'Gripp': [2938], 'K.W.': [2939], 'Nikkel': [2940], 'S.M.': [2941], 'al.Finding': [2943], 'Rare': [2945], 'Disease': [2946], 'Genes': [2947], '(FORGE)': [2948], 'Canada': [2949], 'ConsortiumDe': [2950], 'novo': [2951], 'postzygotic': [2954], 'AKT3,': [2957], 'PIK3R2': [2958], 'related': [2965], 'megalencephaly': [2966], 'syndromes.Nat.': [2967], '44:': [2970], '934-940Crossref': [2971], '(520)': [2974], 'Of': [2977], 'interest': [2978], 'c.626A>T)': [2989], 'implying': [2995], 'genetic,': [2998], 'epigenetic,': [2999], 'environmental': [3001], 'probably': [3003, 4038], 'influence': [3004], "lesions'": [3006], 'behavior.': [3008], 'Because': [3009], 'metastatic': [3018], 'melanomas,16Van': [3020], 'identifying': [3097], 'determine': [3100, 3927], 'behavior': [3103], 'suggest': [3109], 'strategies': [3111], 'treating': [3113], 'melanoma.': [3115], 'Thus': [3116], 'far,': [3117], 'observed': [3119, 3954], 'affecting': [3121, 3261, 3291, 3503, 3544], 'hemangioma,': [3130], 'investigators18Shirley': [3135], '30Couto': [3177], 'Huang': [3179, 3766], 'Maclellan': [3185, 3772], 'R.A.': [3186, 3490, 3773], 'Endothelial': [3195, 3782], 'cells': [3196, 3760, 3783, 3873, 3911, 4005, 4145, 4200], 'mutations.Plast.': [3205, 3792], '137:': [3209, 3796], '77e-82eCrossref': [3210, 3797], '31Nakashima': [3216], 'Miyajima': [3218], 'Sugano': [3220], 'Iimura': [3222], 'Y.': [3223, 3227], 'Kato': [3224], 'Tsurusaki': [3226], 'Miyake': [3228], 'Saitsu': [3230], 'Arai': [3232], 'Matsumoto': [3234], '(p.R183Q)': [3241], 'consistently': [3243], 'syndrome.J.': [3247], '59:': [3251], '691-693Crossref': [3252], '(78)': [3255, 3885], 'Arg183': [3262, 3567], 'malformations.': [3266], 'that,': [3270], 'respect': [3272], 'overlap.': [3281], 'Consistent': [3282], 'overlap': [3285, 3366], 'nonmalignant': [3287], 'conditions,': [3288], '183': [3294], 'phakomatosis': [3306, 3342], 'pigmentovascularis': [3307, 3343], 'extensive': [3309, 3345], 'dermal': [3310, 3346], 'melanocytosis.32Thomas': [3311], 'Zeng': [3313], 'Rivière': [3315], "O'Shaughnessy": [3317], 'Al-Olabi': [3319], 'Atherton': [3323], 'Aubert': [3325], 'Bagazgoitia': [3327], 'Barbarot': [3329], 'al.Mosaic': [3332], 'melanocytosis.J.': [3347], '(Published': [3351, 3432, 3472], 'online': [3352, 3433, 3473], 'January': [3353, 3434, 3474], '14,': [3354], '2016.': [3355], 'S0022-202X(16)00332-8)Google': [3356], 'However,': [3358], 'role': [3360], 'does': [3364], 'inferred': [3373], 'recent': [3375], 'studies': [3376, 3561], 'hypocalcemia': [3379, 3424], 'hypercalcemia': [3381, 3464, 3508], 'but': [3387, 3574, 4071], 'GNAQ.33Piret': [3389], 'S.E.': [3390], 'Gorvin': [3391], 'C.M.': [3392, 3443], 'Pagnamenta': [3393], 'A.T.': [3394], 'Howles': [3395, 3485], 'Cranston': [3397, 3444, 3491], 'Rust': [3399, 3448, 3493], 'Nesbit': [3401, 3452], 'Glaser': [3403, 3894], 'Taylor': [3405], 'Buchs': [3407], 'A.E.': [3408], 'al.Identification': [3410], 'G-protein': [3413, 3456, 3504], 'subunit-α11': [3414, 3457], 'gain-of-function': [3415], 'Val340Met,': [3417], 'family': [3420], 'autosomal': [3422], 'dominant': [3423], 'type': [3425, 3465], '(ADH2).J.': [3427], 'Bone': [3428, 3468], 'Miner.': [3429, 3469], '28,': [3435], '2016)https://doi.org/10.1002/jbmr.2797Crossref': [3436], '(34)': [3439, 3478], '34Gorvin': [3442], 'Hannan': [3446, 3483], 'F.M.': [3447, 3484], 'Qureshi': [3450], 'Thakker': [3454, 3500], 'R.V.': [3455, 3501], 'loss-of-function': [3458], 'Thr54Met,': [3460], 'causing': [3461], 'familial': [3462], 'hypocalciuric': [3463], '(FHH2).J.': [3467], '5,': [3475], '2016)https://doi.org/10.1002/jbmr.2778Crossref': [3476], '35Nesbit': [3481], 'Babinsky': [3487], 'V.N.': [3488], 'Head': [3489], 'Hobbs': [3495], 'M.R.': [3496, 3639], 'Heath': [3497], 'Mutations': [3502, 4328], 'α11': [3506], 'hypocalcemia.N.': [3510], '2476-2486Crossref': [3516], '(272)': [3519], '36Mannstadt': [3522], 'Harris': [3524], 'Bravenboer': [3526], 'Chitturi': [3528], 'Dreijerink': [3530], 'Lambright': [3532], 'D.G.': [3533], 'Lim': [3534], 'E.T.': [3535], 'Jüppner': [3540], 'Germline': [3542], 'Gα11': [3545], 'hypoparathyroidism.N.': [3547], '2532-2534Crossref': [3553], '(74)': [3556], 'vitro': [3560], 'GTP-dependent': [3572], 'signaling,': [3573], 'do': [3576], 'pathways': [3580], 'efficiency.18Shirley': [3584], '37Feng': [3626], 'X.': [3627], 'Degese': [3628], 'M.S.': [3629], 'Iglesias-Bartolome': [3630], 'Vaque': [3632], 'J.P.': [3633], 'Molinolo': [3634], 'A.A.': [3635], 'Rodrigues': [3636], 'Zaidi': [3638], 'Ksander': [3640], 'B.R.': [3641], 'Merlino': [3642], 'Sodhi': [3644], 'al.Hippo-independent': [3647], 'activation': [3648], 'oncogene': [3656], 'through': [3657], 'trio-regulated': [3659], 'rho': [3660], 'GTPase': [3661], 'signaling': [3662], 'circuitry.Cancer': [3663], 'Cell.': [3664, 3708], '831-845Abstract': [3667], '(378)': [3675], '38Yu': [3678], 'F.X.': [3679], 'Luo': [3680], 'Mo': [3682], 'J.S.': [3683], 'Liu': [3684], 'Kim': [3686], 'Y.C.': [3687], 'Meng': [3688], 'Zhao': [3690], 'Peyman': [3692], 'Ouyang': [3694], 'Jiang': [3696], 'al.Mutant': [3699], 'Gq/11': [3700], 'promote': [3701], 'tumorigenesis': [3704], 'YAP.Cancer': [3707], '822-830Abstract': [3711], '(330)': [3719], 'Therefore,': [3722], 'critical': [3725], 'understand': [3727], 'cell-type-specific,': [3729], 'context-specific,': [3730], 'allele-specific': [3732], 'effects': [3733], 'vasculogenesis.': [3741], 'example,': [3743], '(p.Arg183Gln)': [3747], 'endothelial': [3759, 3817, 3872, 3910], 'line': [3762], 'vessels,30Couto': [3764], 'lymphatic': [3805, 3816, 3871, 3878, 3909, 3914], '171834),': [3810], 'cells.39Couto': [3818], 'Upton': [3822], 'Padwa': [3824], 'B.L.': [3825], 'Facial': [3832], 'infiltrating': [3833], 'lipomatosis': [3834], 'contains': [3835], 'multiple': [3840], 'tissues.Plast.': [3841], '72-73Crossref': [3846], '40Boscolo': [3850], 'Coma': [3852], 'Klagsbrun': [3858], 'AKT': [3864], 'hyper-phosphorylation': [3865], 'PI3K': [3868], 'patient': [3876], 'malformation.Angiogenesis.': [3879], '18:': [3881], '151-162Crossref': [3882], '41Osborn': [3888], 'Dickie': [3890, 3900], 'Neilson': [3892], 'Lynch': [3896], 'Gupta': [3898], 'B.H.': [3901], 'Activating': [3902, 4327], 'lymphangiogenic': [3906], 'phenotype': [3907], 'malformations.Hum.': [3915], 'Mol.': [3916], '24:': [3919], '926-938Crossref': [3920], '(89)': [3923], 'To': [3926], 'which': [3928, 4062, 4174], 'features': [3929], 'sample': [3934, 4026], 'mutant': [3938, 3956, 3976, 4144, 4160, 4182], 'cells,': [3939], 'laser': [3942], 'microdissection': [3944], 'FFPE': [3947], 'section': [3949], 'participant': [3951], '4.': [3952], '13%': [3960], 'vascular-enriched': [3963], 'lobules': [3964], 'lesion,': [3967], 'tissues': [3971], 'exhibit': [3972, 4020], '2%': [3975], '3).': [3980], 'unable': [3983], 'strongly': [3986], 'suggestive': [3987], '4/16': [3993], 'leading': [3996], 'us': [3997], 'conclude': [3999], 'mutated': [4004], 'below': [4011], 'our': [4012, 4025, 4032], 'threshold': [4013], 'detection': [4015], 'locus': [4022], 'heterogeneity.': [4023], 'Although': [4024], 'size': [4027], 'small,': [4031], 'GNA11.': [4054], 'contrast': [4056], 'earlier': [4059], 'study': [4060], 'RNA-seq,23Kurek': [4074], 'useful': [4123], 'WES,': [4128], 'sensitivity': [4130], 'detecting': [4132, 4241], 'dependent': [4136], 'coverage': [4140], 'S3).': [4147], 'Interestingly,': [4148], 'when': [4149], 'compared': [4151], 'relative': [4153, 4213], 'levels': [4167], 'paired': [4177], 'DNA,': [4180], 'always': [4186], 'higher': [4187], 'This': [4193, 4258], 'latter': [4194], 'finding': [4195], 'compatible': [4197], 'mutation-containing': [4199], 'expressing': [4205], 'level': [4212], 'cells.': [4216], 'Thus,': [4217], 'addition': [4219], 'advantages': [4222], 'find': [4227], 'abnormal': [4231], 'splicing': [4232], 'transcripts,': [4235], 'advantageous': [4239], 'mutations.': [4245], 'grateful': [4248], 'contributions': [4251], 'work': [4259], 'supported': [4261], 'NIH': [4263], 'grants': [4264], 'R01-AR064231': [4265], '(to': [4266, 4269, 4273], 'M.L.W.),': [4267], 'R01-HL096384': [4268], 'J.B.),': [4270], 'R21-HD081004': [4272], 'A.K.G.).': [4274], 'Download': [4275], '.pdf': [4276], '(.45': [4277], 'MB)': [4278], 'Help': [4279], 'pdf': [4281], 'files': [4282], 'Document': [4283], 'S1.': [4284], 'Figures': [4285], 'S1–S3': [4286, 4289], 'Tables': [4288], 'URLs': [4291], 'presented': [4294], 'herein': [4295], 'follows:1000': [4298], 'Genomes,': [4299], 'http://browser.1000genomes.orgANNOVAR,': [4300], 'http://annovar.openbioinformatics.org/en/latest/Burrows-Wheeler': [4301], 'Aligner,': [4302, 4323], 'http://bio-bwa.sourceforge.net/dbSNP,': [4303], 'build': [4304], '138,': [4305], 'http://www.ncbi.nlm.nih.gov/projects/SNP/ExAC': [4306], 'Browser,': [4307], 'http://exac.broadinstitute.org/Fastq-MCF,': [4308], 'https://code.google.com/p/ea-utils/wiki/FastqMcfGATK,': [4309], 'https://www.broadinstitute.org/gatk/NHLBI': [4310], 'Sequencing': [4312], '(ESP)': [4314], 'Server,': [4317], 'http://evs.gs.washington.edu/EVS/OMIM,': [4318], 'http://www.omim.org/Picard,': [4319], 'http://broadinstitute.github.io/picard/RefSeq,': [4320], 'http://www.ncbi.nlm.nih.gov/RefSeqsamtools,': [4321], 'https://github.com/samtools/STAR': [4322], 'https://github.com/alexdobin/STAR/releasesVarScan,': [4324], 'http://varscan.sourceforge.net/': [4325], 'Are': [4333], 'Associated': [4334], 'HemangiomaAyturk': [4337], 'al.The': [4339], 'American': [4340, 4348], 'Journal': [4341, 4349], 'Human': [4343, 4351], 'GeneticsJune': [4344], '02,': [4345], '2016In': [4346], 'Brief(The': [4347], 'Genetics': [4352], '98,': [4353], '789–795;': [4354], 'April': [4355], 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