-
1
-
-
84889598725
-
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
-
Callaway JL, Shaffer LG, Chitty LS, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013;33:1119-23.
-
(2013)
Prenat Diagn
, vol.33
, pp. 1119-1123
-
-
Callaway, J.L.1
Shaffer, L.G.2
Chitty, L.S.3
-
2
-
-
0031926213
-
Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14weeks of gestation
-
Souka AP, Snijders RJ, Novakov A, et al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14weeks of gestation. Ultrasound Obstet Gynecol 1998;11:391-400.
-
(1998)
Ultrasound Obstet Gynecol
, vol.11
, pp. 391-400
-
-
Souka, A.P.1
Snijders, R.J.2
Novakov, A.3
-
3
-
-
84933673322
-
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach
-
Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn 2015;35:656-62.
-
(2015)
Prenat Diagn
, vol.35
, pp. 656-662
-
-
Chitty, L.S.1
Mason, S.2
Barrett, A.N.3
-
4
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369:1502-11.
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
5
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
154ra135.
-
Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4:154ra135.
-
(2012)
Sci Transl Med
, vol.4
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
6
-
-
84870568851
-
Clinical diagnosis by whole-genome sequencing of a prenatal sample
-
Talkowski ME, Ordulu Z, Pillalamarri V, et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 2012;367:2226-32.
-
(2012)
N Engl J Med
, vol.367
, pp. 2226-2232
-
-
Talkowski, M.E.1
Ordulu, Z.2
Pillalamarri, V.3
-
7
-
-
84907597145
-
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
-
Filges I, Nosova E, Bruder E, et al. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet 2014;86:220-8.
-
(2014)
Clin Genet
, vol.86
, pp. 220-228
-
-
Filges, I.1
Nosova, E.2
Bruder, E.3
-
8
-
-
85027911025
-
Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes
-
Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes. Prenat Diagn 2014;21:339-46.
-
(2014)
Prenat Diagn
, vol.21
, pp. 339-346
-
-
Filges, I.1
Friedman, J.M.2
-
9
-
-
84901360405
-
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
-
Carss KJ, Hillman SC, Parthiban V, et al. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet 2014;23:3269-77.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3269-3277
-
-
Carss, K.J.1
Hillman, S.C.2
Parthiban, V.3
-
10
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870-9.
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
-
11
-
-
84902536762
-
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-further evidence of genotype-phenotype correlation
-
Drury S, Boustred C, Tekman M, et al. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-further evidence of genotype-phenotype correlation. Am J Med Genet A 2014;164:1777-83.
-
(2014)
Am J Med Genet A
, vol.164
, pp. 1777-1783
-
-
Drury, S.1
Boustred, C.2
Tekman, M.3
-
12
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-60.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
13
-
-
69949122158
-
VarScan: variant detection in massively parallel sequencing of individual and pooled samples
-
Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics 2009;25:2283-5.
-
(2009)
Bioinformatics
, vol.25
, pp. 2283-2285
-
-
Koboldt, D.C.1
Chen, K.2
Wylie, T.3
-
14
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensemble API and SNP Effect Predictor
-
McLaren W, Pritchard B, Rios D, et al. Deriving the consequences of genomic variants with the Ensemble API and SNP Effect Predictor. Bioinformatics 2010;26:2069-70.
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
-
15
-
-
84871611836
-
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update
-
Gordon K, Spiden SL, Connell FC, et al. FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. Hum Mutat 2013;34:23-31.
-
(2013)
Hum Mutat
, vol.34
, pp. 23-31
-
-
Gordon, K.1
Spiden, S.L.2
Connell, F.C.3
-
16
-
-
84980036209
-
P14.77: Prenatal diagnosis of Nonne-Milroy primary congenital lymphedema-a case report of 2 cases and review of the literature
-
Robertson M, Curren J, Ellwood DA, Devine B. P14.77: Prenatal diagnosis of Nonne-Milroy primary congenital lymphedema-a case report of 2 cases and review of the literature. Ultrasound Obstet Gynecol 2004;24:367.
-
(2004)
Ultrasound Obstet Gynecol
, vol.24
, pp. 367
-
-
Robertson, M.1
Curren, J.2
Ellwood, D.A.3
Devine, B.4
-
17
-
-
74949127403
-
Nuchal translucency and lymphatic system maldevelopment
-
Bellini C, Rutigliani M, Boccardo FM, et al. Nuchal translucency and lymphatic system maldevelopment. J Perinat Med 2009;37:673-6.
-
(2009)
J Perinat Med
, vol.37
, pp. 673-676
-
-
Bellini, C.1
Rutigliani, M.2
Boccardo, F.M.3
-
18
-
-
84943351612
-
-
Cambridge, MA [Internet]. URL:[accessed on 7 February 2015].
-
Exome Aggregation Consortium (ExAC), Cambridge, MA [Internet]. 2015. Available from: URL: http://exac.broadinstitute.org [accessed on 7 February 2015].
-
(2015)
-
-
-
19
-
-
84893258310
-
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings
-
Mesens T, Witters I, Van Robaeys J, et al. Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns 2013;24:367-71.
-
(2013)
Genet Couns
, vol.24
, pp. 367-371
-
-
Mesens, T.1
Witters, I.2
Van Robaeys, J.3
-
20
-
-
84878861767
-
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
-
Schmidts M, Arts HH, Bongers EMHF, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 2013;50:309-23.
-
(2013)
J Med Genet
, vol.50
, pp. 309-323
-
-
Schmidts, M.1
Arts, H.H.2
Bongers, E.M.H.F.3
-
21
-
-
0343183923
-
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
-
Körkkö J, Cohn DH, Ala-Kokko L, et al. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 2000;92:95-100.
-
(2000)
Am J Med Genet
, vol.92
, pp. 95-100
-
-
Körkkö, J.1
Cohn, D.H.2
Ala-Kokko, L.3
-
22
-
-
78751628835
-
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome
-
Al-Haggar M, Yahia S, Damjanovich K, et al. p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Indian J Pediatr 2011;78:103-5.
-
(2011)
Indian J Pediatr
, vol.78
, pp. 103-105
-
-
Al-Haggar, M.1
Yahia, S.2
Damjanovich, K.3
-
23
-
-
84891809093
-
ClinVar: public archive of relationships among sequence variation and human phenotype
-
Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42(Database issue):D980-5.
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.DATABASE ISSUE
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
-
24
-
-
84943366534
-
-
[Accessed 14 March].
-
Debre R. Available from: http://www.ncbi.nlm.nih.gov.libproxy.ucl.ac.uk/clinvar/variation/127162 [Accessed 14 March 2015].
-
(2015)
-
-
Debre, R.1
-
25
-
-
77952547349
-
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia
-
Shiihara T, Maruyama K, Yamada Y, et al. A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. Brain Dev 2010;32:502-5.
-
(2010)
Brain Dev
, vol.32
, pp. 502-505
-
-
Shiihara, T.1
Maruyama, K.2
Yamada, Y.3
-
26
-
-
84859430859
-
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
-
S1-2.
-
Rivière J-B, van Bon BWM, Hoischen A, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012;44: 440-4, S1-2.
-
(2012)
Nat Genet
, vol.44
, pp. 440-444
-
-
Rivière, J.-B.1
van Bon, B.W.M.2
Hoischen, A.3
-
27
-
-
84896694796
-
A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands
-
Van Minkelen R, van Bever Y, Kromosoeto JNR, et al. A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet 2014;85:318-27.
-
(2014)
Clin Genet
, vol.85
, pp. 318-327
-
-
Van Minkelen, R.1
van Bever, Y.2
Kromosoeto, J.N.R.3
-
28
-
-
84861548193
-
Summarizing and correcting the GC content bias in high-throughput sequencing
-
e72.
-
Benjamini Y, Speed TP. Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res 2012;40:e72.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Benjamini, Y.1
Speed, T.P.2
-
29
-
-
34447506419
-
Increased nuchal translucency thickness and normal karyotype: time for parental reassurance
-
Bilardo CM, Müller MA, Pajkrt E, et al. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 2007;30:11-8.
-
(2007)
Ultrasound Obstet Gynecol
, vol.30
, pp. 11-18
-
-
Bilardo, C.M.1
Müller, M.A.2
Pajkrt, E.3
-
30
-
-
75649104945
-
Increased nuchal translucency in euploid fetuses-what should we be telling the parents?
-
Bilardo CM, Timmerman E, Pajkrt E, van Maarle M. Increased nuchal translucency in euploid fetuses-what should we be telling the parents? Prenat Diagn 2010;30:93-102.
-
(2010)
Prenat Diagn
, vol.30
, pp. 93-102
-
-
Bilardo, C.M.1
Timmerman, E.2
Pajkrt, E.3
van Maarle, M.4
-
31
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-74.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
32
-
-
84944158890
-
Research participants in NGS studies want to know about incidental findings
-
Jelsig AM, Qvist N, Brusgaard K, Ousager LB. Research participants in NGS studies want to know about incidental findings. Eur J Hum Genet 2015. DOI: 10.1038/ejhg.2014.29.
-
(2015)
Eur J Hum Genet
-
-
Jelsig, A.M.1
Qvist, N.2
Brusgaard, K.3
Ousager, L.B.4
-
33
-
-
84938196576
-
Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling
-
Smith LA, Douglas J, Braxton AA, Kramer K. Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling. J Genet Couns 2015;24:654-62.
-
(2015)
J Genet Couns
, vol.24
, pp. 654-662
-
-
Smith, L.A.1
Douglas, J.2
Braxton, A.A.3
Kramer, K.4
-
34
-
-
84907857645
-
Genetic testing of children for disease that have onset in adulthood: the limits of family interests
-
Hardart GE, Chung WK. Genetic testing of children for disease that have onset in adulthood: the limits of family interests. Pediatrics 2014;134(Supp 2):S104-10.
-
(2014)
Pediatrics
, vol.134
, Issue.SUPPL 2
, pp. S104-S110
-
-
Hardart, G.E.1
Chung, W.K.2
-
35
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
154ra135.
-
Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4:154ra135.
-
(2012)
Sci Transl Med
, vol.4
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
36
-
-
84943230080
-
Global perspectives on clinical adoption of NIPT
-
Minear MA, Lewis C, Pradhan S, Chandrasekharan S. Global perspectives on clinical adoption of NIPT. Prenat Diagn 2015;35(10):959-67, DOI: 10.1002/pd.4637.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 959-967
-
-
Minear, M.A.1
Lewis, C.2
Pradhan, S.3
Chandrasekharan, S.4
-
37
-
-
84943348860
-
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
-
Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015;35(10):950-8, DOI: 10.1002/pd.4585.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 950-958
-
-
Hill, M.1
Twiss, P.2
Verhoef, T.I.3
-
39
-
-
54049132561
-
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
-
Lun FMF, Chiu RWK, Allen Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54:1664-72.
-
(2008)
Clin Chem
, vol.54
, pp. 1664-1672
-
-
Lun, F.M.F.1
Chiu, R.W.K.2
Allen Chan, K.C.3
-
40
-
-
84940796553
-
Stem cell transplantation before birth-a realistic option for treatment of osteogenesis imperfecta?
-
Westgren M, Götherström C, Stem cell transplantation before birth-a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn 2015;35:827-32.
-
(2015)
Prenat Diagn
, vol.35
, pp. 827-832
-
-
Westgren, M.1
Götherström, C.2
|