Whole-exome sequencing on deceased fetuses with ultrasound anomalies: Expanding our knowledge of genetic disease during fetal development

Genetics in Medicine

Volumn 19, Issue 10, 2017, Pages 1171-1178

  Yates, Carin L ^a   Monaghan, Kristin G ^a   Copenheaver, Deborah ^a   Retterer, Kyle ^a   Scuffins, Julie ^a   Kucera, Cathlin R ^a   Friedman, Bethany ^a   Richard, Gabriele ^a   Juusola, Jane ^a  

^a GENEDX   (United States)

Author keywords

exome; fetal; ultrasound anomaly; WES

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; DIAGNOSTIC VALUE; EDEMA; FETUS; FETUS DEVELOPMENT; FETUS ECHOGRAPHY; FETUS MALFORMATION; FLNA GENE; GASTROINTESTINAL MALFORMATION; GENE; GENETIC DISORDER; GENETIC VARIABILITY; GESTATIONAL AGE; GROWTH DISORDER; HEAD AND NECK MALFORMATION; HEART ARRHYTHMIA; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; PIEZO1 GENE; PIK3CA GENE; PTPN11 GENE; RESPIRATORY TRACT MALFORMATION; SECOND TRIMESTER PREGNANCY; SKELETON MALFORMATION; UROGENITAL TRACT MALFORMATION; WHOLE EXOME SEQUENCING; DIAGNOSTIC IMAGING; DNA SEQUENCE; ECHOGRAPHY; ETIOLOGY; EXOME; FEMALE; FETUS DEATH; GENETICS; INDUCED ABORTION; MALE; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

ABORTION, INDUCED; EXOME; FEMALE; FETAL DEATH; FETAL DEVELOPMENT; FETUS; HUMANS; MALE; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY; ULTRASONOGRAPHY, PRENATAL; WHOLE EXOME SEQUENCING;

EID: 85030773841     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.31     Document Type: Article

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