[1] |
Carr, C.W., Moreno-De-Luca, D., Parker, C. et al. Eur. J. Hum. Genet., 18 (2010),pp. 1216-1220
|
[2] |
Chang, S.W., Mislankar, M., Misra, C. et al. Hum. Mutat., 34 (2013),pp. 1226-1230
|
[3] |
Cheung, S.W., Patel, A., Leung, T.Y. Accurate description of DNA-based noninvasive prenatal screening N. Engl. J. Med., 372 (2015),pp. 1675-1677
|
[4] |
Chitty, L.S. Use of cell-free DNA to screen for Down's syndrome N. Engl. J. Med., 372 (2015),pp. 1666-1667
|
[5] |
Dimitrov, B.I., Ogilvie, C., Wieczorek, D. et al. 3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients Am. J. Med. Genet. A, 167 (2015),pp. 1223-1230
|
[6] |
Fiorentino, F., Bono, S., Biricik, A. et al. Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles Hum. Reprod., 29 (2014),pp. 2802-2813
|
[7] |
Hamdan, F.F., Daoud, H., Rochefort, D. et al. Am. J. Hum. Genet., 87 (2010),pp. 671-678
|
[8] |
Horn, D., Kapeller, J., Rivera-Brugues, N. et al. Hum. Mutat., 31 (2010),pp. E1851-E1860
|
[9] |
Huang, N., Lee, I., Marcotte, E.M. et al. Characterising and predicting haploinsufficiency in the human genome PLoS Genet., 6 (2010),p. e1001154
|
[10] |
Kern, C.B., Wessels, A., McGarity, J. et al. Matrix Biol., 29 (2010),pp. 304-316
|
[11] |
Li, X., Chen, S., Xie, W. et al. PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing PLoS One, 9 (2014),p. e85096
|
[12] |
Liu, Z., Xu, K.F., Hu, C. et al. Use of whole-exome sequencing for the diagnosis of atypical Birt-Hogg-Dube syndrome J. Genet. Genomics, 41 (2014),pp. 449-451
|
[13] |
Lloveras, E., Vendrell, T., Fernandez, A. et al. Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome Cytogenet. Genome Res., 144 (2014),pp. 290-293
|
[14] |
Morales, C., Mademont-Soler, I., Armengol, L. et al. Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities Cytogenet. Genome Res., 125 (2009),pp. 334-340
|
[15] |
Nobukuni, Y., Watanabe, A., Takeda, K. et al. Am. J. Hum. Genet., 59 (1996),pp. 76-83
|
[16] |
Norton, M.E., Jacobsson, B., Swamy, G.K. et al. Cell-free DNA analysis for noninvasive examination of trisomy N. Engl. J. Med., 372 (2015),pp. 1589-1597
|
[17] |
O'Roak, B.J., Deriziotis, P., Lee, C. et al. Nat. Genet., 43 (2011),pp. 585-589
|
[18] |
Okumura, A., Yamamoto, T., Miyajima, M. et al. Pediatr. Neurol., 51 (2014),pp. 730-733
|
[19] |
Palumbo, O., D'Agruma, L., Minenna, A.F. et al. Gene, 516 (2013),pp. 107-113
|
[20] |
Pariani, M.J., Spencer, A., , Rimoin, D.L. Eur. J. Med. Genet., 52 (2009),pp. 123-127
|
[21] |
Petek, E., Windpassinger, C., Simma, B. et al. J. Hum. Genet., 48 (2003),pp. 283-287
|
[22] |
Royer-Bertrand, B., Rivolta, C. Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer Cell. Mol. Life Sci., 72 (2015),pp. 1463-1471
|
[23] |
Schwaibold, E.M., Zoll, B., Burfeind, P. et al. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review Am. J. Med. Genet. A, 161A (2013),pp. 2634-2640
|
[24] |
Schwarzbraun, T., Ofner, L., Gillessen-Kaesbach, G. et al. Am. J. Med. Genet. A, 143A (2007),pp. 619-624
|
[25] |
Sismani, C., Kitsiou-Tzeli, S., Ioannides, M. et al. Mol. Cytogenet., 1 (2008),p. 15
|
[26] |
Snyder, M.W., Simmons, L.E., Kitzman, J.O. et al. Copy-number variation and false positive prenatal aneuploidy screening results N. Engl. J. Med., 372 (2015),pp. 1639-1645
|
[27] |
Song, H., Makino, Y., Noguchi, E. et al. Clin. Case Rep., 3 (2015),pp. 110-113
|
[28] |
Talkowski, M.E., Rosenfeld, J.A., Blumenthal, I. et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries Cell, 149 (2012),pp. 525-537
|
[29] |
Tao, H., Manak, J.R., Sowers, L. et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans Am. J. Hum. Genet., 88 (2011),pp. 138-149
|
[30] |
Tassabehji, M., Newton, V.E., Read, A.P. Nat. Genet., 8 (1994),pp. 251-255
|
[31] |
Tutulan-Cunita, A.C., Papuc, S.M., Arghir, A. et al. 3p interstitial deletion: novel case report and review J. Child Neurol., 27 (2012),pp. 1062-1066
|
[32] |
Wang, B., Weidenfeld, J., Lu, M.M. et al. Development, 131 (2004),pp. 4477-4487
|
[33] |
Xu, Z., Peng, A.W., Oshima, K. et al. J. Neurosci., 28 (2008),pp. 11269-11276
|