review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Keren J Carss | Q56423097 |
Sarah C Hillman | Q57691315 | ||
P2093 | author name string | Matthew E Hurles | |
Mark D Kilby | |||
Fiona L Mackie | |||
P2860 | cites work | DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation | Q24567711 |
Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 | ||
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts | Q24618002 | ||
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy | Q24627800 | ||
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly | Q28184095 | ||
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | Q28275978 | ||
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) | Q28646371 | ||
Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing | Q28731652 | ||
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations | Q29614573 | ||
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium | Q29619206 | ||
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics | Q30391597 | ||
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics | Q30391601 | ||
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Q30414408 | ||
Congenital abnormalities of the central nervous system | Q33186217 | ||
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma | Q33360224 | ||
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis | Q33595849 | ||
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy | Q33597984 | ||
Whole exome capture in solution with 3 Gbp of data | Q33610914 | ||
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability | Q33872321 | ||
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases | Q33903384 | ||
Renal aplasia in humans is associated with RET mutations | Q39141569 | ||
Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling | Q39232987 | ||
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. | Q40078199 | ||
A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation | Q41925586 | ||
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. | Q41931303 | ||
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics | Q42416347 | ||
Exome sequencing: the expert view | Q42576049 | ||
Referral patterns for microarray testing in prenatal diagnosis | Q43435193 | ||
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society | Q44596151 | ||
ACMG recommendations on incidental findings are flawed scientifically and ethically | Q45193554 | ||
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing | Q47427812 | ||
A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations | Q48307715 | ||
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing | Q48460149 | ||
Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. | Q50750814 | ||
Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. | Q51114145 | ||
The Deciphering Developmental Disorders (DDD) study. | Q51863910 | ||
Empirical research on the ethics of genomic research. | Q52934373 | ||
Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom | Q56772393 | ||
Policy challenges of clinical genome sequencing | Q56902799 | ||
Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service | Q58028956 | ||
Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection | Q58663048 | ||
Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. First report. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group | Q69366946 | ||
Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases | Q70539266 | ||
Chemical differentiation along metaphase chromosomes | Q72027474 | ||
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach | Q73896797 | ||
Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study | Q84018877 | ||
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population | Q86847268 | ||
New technique for distinguishing between human chromosomes | Q93705962 | ||
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. | Q34040436 | ||
Non-invasive prenatal measurement of the fetal genome | Q34286073 | ||
De novo mutations in human genetic disease | Q34288731 | ||
The trisomy 18 syndrome | Q34307500 | ||
Clinical diagnosis by whole-genome sequencing of a prenatal sample | Q34315784 | ||
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. | Q34340985 | ||
De novo mutations in histone-modifying genes in congenital heart disease. | Q34344183 | ||
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. | Q34385131 | ||
Randomised controlled trial of genetic amniocentesis in 4606 low-risk women | Q34385464 | ||
Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical? | Q34398040 | ||
Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis | Q34399889 | ||
Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies | Q34496747 | ||
Fetal diagnostic indications for second and third trimester outpatient pregnancy termination | Q34548665 | ||
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma | Q34688588 | ||
Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia | Q34807426 | ||
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. | Q35644206 | ||
A cytogeneticist's perspective on genomic microarrays | Q35772110 | ||
Noninvasive whole-genome sequencing of a human fetus. | Q36048523 | ||
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy | Q36492215 | ||
Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. | Q37120979 | ||
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. | Q37156002 | ||
Women's experiences receiving abnormal prenatal chromosomal microarray testing results | Q37424832 | ||
Cleft lip and palate treatment of 530 children over a decade in a single centre | Q37482709 | ||
Commercial landscape of noninvasive prenatal testing in the United States | Q37504505 | ||
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis | Q37775574 | ||
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis | Q38091392 | ||
The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made | Q38099617 | ||
Exome sequencing analysis: a guide to disease variant detection | Q38123052 | ||
The role and challenges of exome sequencing in studies of human diseases | Q38137080 | ||
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges | Q38188782 | ||
Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers | Q38459998 | ||
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development | Q38903739 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 747-762 | |
P577 | publication date | 2014-07-08 | |
P1433 | published in | Journal of Clinical Medicine | Q27724774 |
P1476 | title | Exome Sequencing in Fetuses with Structural Malformations | |
P478 | volume | 3 |
Q64077212 | Bayesian-based noninvasive prenatal diagnosis of single-gene disorders |
Q41016171 | Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies |
Q52675541 | Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally? |
Q88212766 | Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management |
Q35865955 | Secondary findings and carrier test frequencies in a large multiethnic sample |
Q91079086 | Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations |
Q90947541 | Whole-exome sequencing in fetuses with central nervous system abnormalities |
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