Clinical application of whole-exome sequencing across clinical indications

Genetics in Medicine

Volumn 18, Issue 7, 2016, Pages 696-704

  Retterer, Kyle ^a   Juusola, Jane ^a   Cho, Megan T ^a   Vitazka, Patrik ^a   Millan, Francisca ^a   Gibellini, Federica ^a   Vertino Bell, Annette ^a   Smaoui, Nizar ^a,b   Neidich, Julie ^a,c   Monaghan, Kristin G ^a   McKnight, Dianalee ^a   Bai, Renkui ^a   Suchy, Sharon ^a   Friedman, Bethany ^a   Tahiliani, Jackie ^a,d   Pineda Alvarez, Daniel ^a   Richard, Gabriele ^a   Brandt, Tracy ^a   Haverfield, Eden ^a,d   Chung, Wendy K ^e   Bale, Sherri ^a   more..

^a GENEDX   (United States)

^b Takeda Pharmaceuticals International Inc   (United States)

^c Pathway Genomics Corporation   (United States)

^d Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation   (United States)

^e Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; AGAMMAGLOBULINEMIA; AMBIGUOUS GENITALIA; ARTHROGRYPOSIS; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BONE DYSPLASIA; BRAIN MALFORMATION; BRANCHIOOTORENAL SYNDROME; CAMPTODACTYLY; CARDIOVASCULAR DISEASE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME 6; CLEFT LIP PALATE; CLINICAL FEATURE; CLINICAL GENETICS; COGNITIVE DEFECT; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONGENITAL MALFORMATION; CONNECTIVE TISSUE DISEASE; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; DISEASES; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSOSTOSIS; ECTODERMAL DYSPLASIA; EXOME; FAILURE TO THRIVE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 4; GRAY PLATELET SYNDROME; HEARING DISORDER; HEART VENTRICLE SEPTUM DEFECT; HETEROPLASMY; HOLOPROSENCEPHALY; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPEREKPLEXIA; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; HYPODONTIA; IMMUNOPATHOLOGY; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; LEIGH DISEASE; LENNOX GASTAUT SYNDROME; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE PSEUDOHERMAPHRODITISM; METABOLIC DISORDER; MICROCEPHALY; MITOCHONDRIAL GENOME; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE ATROPHY; MUSCLE DISEASE; MYOPATHY; NEUROFIBROMATOSIS TYPE 1; PERIPHERAL NEUROPATHY; POLYNEUROPATHY; SEIZURE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY; SKIN DISEASE; STRABISMUS; TALL STATURE; TAY SACHS DISEASE; TORSION DYSTONIA; VISUAL DISORDER; WAARDENBURG SYNDROME; WHOLE EXOME SEQUENCING; CLASSIFICATION; DNA SEQUENCE; GENETIC DISEASES, INBORN; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

EXOME; GENETIC DISEASES, INBORN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84977142736     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.148     Document Type: Article

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