Prenatal exome sequencing for fetuses with structural abnormalities: the next step

被引:45
作者
Hillman, S. C. [1 ,2 ,3 ]
Willams, D. [4 ]
Carss, K. J. [5 ]
McMullan, D. J. [6 ]
Hurles, M. E. [5 ]
Kilby, M. D. [1 ,2 ,3 ]
机构
[1] Univ Birmingham, Coll Womens & Childrens Hlth, Birmingham, W Midlands, England
[2] Univ Birmingham, Sch Clin & Expt Med, Coll Med & Dent, Birmingham, W Midlands, England
[3] Birmingham Womens Fdn Trust, Fetal Med Ctr, Birmingham, W Midlands, England
[4] Birmingham Womens Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, England
[5] Wellcome Trust Sanger Inst, Genome Mutat & Genet Dis Grp, Cambridge, England
[6] Birmingham Womens Fdn Trust, West Midlands Genet Lab, Birmingham, W Midlands, England
关键词
CHROMOSOMAL MICROARRAY; MUTATIONS; DIAGNOSIS; GENE;
D O I
10.1002/uog.14653
中图分类号
O42 [声学];
学科分类号
070206 ; 082403 ;
摘要
引用
收藏
页码:4 / 9
页数:6
相关论文
共 27 条
[1]  
American College of Obstetricians and Gynecologists Committee on Genetics, 2013, Obstet Gynecol, V122, P1374, DOI 10.1097/01.AOG.0000438962.16108.d1
[2]   Exome sequencing as a tool for Mendelian disease gene discovery [J].
Bamshad, Michael J. ;
Ng, Sarah B. ;
Bigham, Abigail W. ;
Tabor, Holly K. ;
Emond, Mary J. ;
Nickerson, Deborah A. ;
Shendure, Jay .
NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755
[3]   Women's experiences receiving abnormal prenatal chromosomal microarray testing results [J].
Bernhardt, Barbara A. ;
Soucier, Danielle ;
Hanson, Karen ;
Savage, Melissa S. ;
Jackson, Laird ;
Wapner, Ronald J. .
GENETICS IN MEDICINE, 2013, 15 (02) :139-145
[4]   Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability [J].
Bisschoff, Izak J. ;
Zeschnigk, Christine ;
Horn, Denise ;
Wellek, Brigitte ;
Riess, Angelika ;
Wessels, Maja ;
Willems, Patrick ;
Jensen, Peter ;
Busche, Andreas ;
Bekkebraten, Jens ;
Chopra, Maya ;
Hove, Hanne Dahlgaard ;
Evers, Christina ;
Heimdal, Ketil ;
Kaiser, Ann-Sophie ;
Kunstmann, Erdmut ;
Robinson, Kristina Lagerstedt ;
Linne, Maja ;
Martin, Patricia ;
McGrath, James ;
Pradel, Winnie ;
Prescott, Katrina E. ;
Roesler, Bernd ;
Rudolf, Gorazd ;
Siebers-Renelt, Ulrike ;
Tyshchenko, Nataliya ;
Wieczorek, Dagmar ;
Wolff, Gerhard ;
Dobyns, William B. ;
Morris-Rosendahl, Deborah J. .
HUMAN MUTATION, 2013, 34 (01) :237-247
[5]  
Brackley KJ, 1999, PRENATAL DIAG, V19, P570
[6]   Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound [J].
Carss, Keren J. ;
Hillman, Sarah C. ;
Parthiban, Vijaya ;
McMullan, Dominic J. ;
Maher, Eamonn R. ;
Kilby, Mark D. ;
Hurles, Matthew E. .
HUMAN MOLECULAR GENETICS, 2014, 23 (12) :3269-3277
[7]   The trisomy 18 syndrome [J].
Cereda, Anna ;
Carey, John C. .
ORPHANET JOURNAL OF RARE DISEASES, 2012, 7
[8]   Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype [J].
Filges, I. ;
Nosova, E. ;
Bruder, E. ;
Tercanli, S. ;
Townsend, K. ;
Gibson, W. T. ;
Roethlisberger, B. ;
Heinimann, K. ;
Hall, J. G. ;
Gregory-Evans, C. Y. ;
Wasserman, W. W. ;
Miny, P. ;
Friedman, J. M. .
CLINICAL GENETICS, 2014, 86 (03) :220-228
[9]   Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families [J].
Ford, D ;
Easton, DF ;
Stratton, M ;
Narod, S ;
Goldgar, D ;
Devilee, P ;
Bishop, DT ;
Weber, B ;
Lenoir, G ;
Chang-Claude, J ;
Sobol, H ;
Teare, MD ;
Struewing, J ;
Arason, A ;
Scherneck, S ;
Peto, J ;
Rebbeck, TR ;
Tonin, P ;
Neuhausen, S ;
Barkardottir, R ;
Eyfjord, J ;
Lynch, H ;
Ponder, BAJ ;
Gayther, SA ;
Birch, JM ;
Lindblom, A ;
Stoppa-Lyonnet, D ;
Bignon, Y ;
Borg, A ;
Hamann, U ;
Haites, N ;
Scott, RJ ;
Maugard, CM ;
Vasen, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :676-689
[10]  
Gergev G, 2014, J CHILD NEUROL