Molecular diagnostic experience of whole-exome sequencing in adult patients

Genetics in Medicine

Volumn 18, Issue 7, 2016, Pages 678-685

  Posey, Jennifer E ^a   Rosenfeld, Jill A ^a   James, Regis A ^a   Bainbridge, Matthew ^a   Niu, Zhiyv ^a   Wang, Xia ^a   Dhar, Shweta ^a   Wiszniewski, Wojciech ^a   Akdemir, Zeynep H C ^a   Gambin, Tomasz ^a   Xia, Fan ^a   Person, Richard E ^a   Walkiewicz, Magdalena ^a   Shaw, Chad A ^a   Sutton, V Reid ^a   Beaudet, Arthur L ^a   Muzny, Donna ^a   Eng, Christine M ^a   Yang, Yaping ^a   Gibbs, Richard A ^a   Lupski, James R ^a,b   Boerwinkle, Eric ^a,c   Plon, Sharon E ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS   (United States)

Author keywords

adult patients; whole exome sequencing

Indexed keywords

ADULT; AFRICAN AMERICAN; AGE; AGED; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; CAUCASIAN; CHROMOSOME 9; CHROMOSOME XQ; CONSANGUINITY; COPY NUMBER VARIATION; DE LANGE SYNDROME; DIAGNOSTIC VALUE; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GROWTH DISORDER; HAPPY PUPPET SYNDROME; HEAD AND NECK DISEASE; HISPANIC; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MITOCHONDRIAL GENOME; MOLECULAR DIAGNOSIS; MOSAICISM; MOTOR DYSFUNCTION; NERVOUS SYSTEM MALFORMATION; NONSENSE MUTATION; PHENOTYPE; RETROSPECTIVE STUDY; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; UNIPARENTAL DISOMY; VERY ELDERLY; WHOLE EXOME SEQUENCING; EXOME; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MOLECULAR PATHOLOGY; PROCEDURES;

ADULT; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PATHOLOGY, MOLECULAR;

EID: 84977147369     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.142     Document Type: Article

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