TY  - GEN
AU  - Talkowski,Michael E
AU  - Ordulu,Zehra
AU  - Pillalamarri,Vamsee
AU  - Benson,Carol B
AU  - Blumenthal,Ian
AU  - Connolly,Susan
AU  - Hanscom,Carrie
AU  - Hussain,Naveed
AU  - Pereira,Shahrin
AU  - Picker,Jonathan
AU  - Rosenfeld,Jill A
AU  - Shaffer,Lisa G
AU  - Wilkins-Haug,Louise E
AU  - Gusella,James F
AU  - Morton,Cynthia C
TI  - Clinical diagnosis by whole-genome sequencing of a prenatal sample
SN  - 1533-4406
PY  - 2012///1214
KW  - Adult
KW  - CHARGE Syndrome
KW  - diagnosis
KW  - Chromosome Aberrations
KW  - Chromosome Disorders
KW  - Female
KW  - Fetal Diseases
KW  - Genetic Testing
KW  - methods
KW  - Genome, Human
KW  - Genomic Library
KW  - Heart Defects, Congenital
KW  - diagnostic imaging
KW  - Humans
KW  - Karyotype
KW  - Mutation
KW  - Oligonucleotide Array Sequence Analysis
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - Translocation, Genetic
KW  - Ultrasonography, Prenatal
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1056/NEJMoa1208594
ER  -