Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

PLoS ONE

Volumn 10, Issue 3, 2015, Pages

  Farlow, Janice L ^a   Lin, Hai ^a   Sauerbeck, Laura ^b   Lai, Dongbing ^a   Koller, Daniel L ^a   Pugh, Elizabeth ^c   Hetrick, Kurt ^c   Ling, Hua ^c   Kleinloog, Rachel ^d   Van Der Vlies, Pieter ^e   Deelen, Patrick ^e   Swertz, Morris A ^e   Verweij, Bon H ^d   Regli, Luca ^d,f   Rinkel, Gabriel J E ^d   Ruigrok, Ynte M ^d   Doheny, Kimberly ^c   Liu, Yunlong ^a   Foroud, Tatiana ^a,h   Broderick, Joseph ^b,g   Woo, Daniel ^g   Kissela, Brett ^g   Kleindorfer, Dawn ^g   Schneider, Alex ^g   Zuccarello, Mario ^g   Ringer, Andrew ^g   Deka, Ranjan ^g   Brown, Robert D ⁱ   Huston, John ⁱ   Mesissner, Irene ⁱ   Wiebers, David ⁱ   Qureshi, Adnan I ^j   Rasmussen, Peter A ^k   Connolly, E Sander ^l   Sacco, Ralph L ^l   Malkaff, Marc ^m   Payner, Troy D ⁿ   Ferguson, Gary G ^o   Aldrich, E Francois ^p   Rouleau, Guy ^q   Anderson, Craig S ^r   Mee, Edward W ^s   Hankey, Graeme J ^t   Knuckey, Neville ^u   Reilly, Peter L ^v   Laidlaw, John D ^w   D'Urso, Paul ^x   Rosenfeld, Jeffrey V ^x   Morgan, Michael K ^y   Dorsch, Nicholas ^z   Besser, Michael ^aa   Batjer, H Hunt ^ab   Richard, Michael T ^ac   Kassam, Amin ^ad   Steinberg, Gary K ^ae   Johnston, S Claiborne ^af   Ko, Nerissa U ^af   Giannotta, Steven L ^ag   Kassell, Neal F ^ah   Worrall, Bradford B ^ah   Lui, Kenneth C ^ah   Dumont, Aaron ^ah   Tirschell, David L ^ai   Kaufmann, Anthony M ^aj   Fisher, Winfield S ^ak   Aziz, Khaled Mohamed Abdel ^al   Day, Arthur L ^am   Du, Rose ^am   Ogilvy, Christopher ^an   Lewis, Stephen B ^ao   Murphy, Kieran P ^c   Radvany, Martin ^c   Gandhi, Dheerah ^c   Lisabeth, Lynda ^ap   Pandey, Aditya ^ap   Morgenstern, Lewis ^ap   Derdeyn, Colin ^aq   Langefeld, Carl ^ar   Bailey Wilson, Joan ^c   more..

^a INDIANA UNIVERSITY   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^g UNIVERSITY OF CINCINNATI   (United States)

^h INDIANA UNIVERSITY   (United States)

ⁱ MAYO CLINIC   (United States)

^j UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^k LERNER RESEARCH INSTITUTE   (United States)

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

^m UNIVERSITY OF TEXAS   (United States)

ⁿ Indianapolis Neurosurgical Group   (United States)

^o UNIVERSITY OF WESTERN ONTARIO   (Canada)

^p UNIVERSITY OF MARYLAND   (United States)

^q MCGILL UNIVERSITY   (Canada)

^r George Institute   (United States)

^s Universidad Tecnológica de Auckland   (New Zealand)

^t ROYAL PERTH HOSPITAL   (Australia)

^u SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^v Royal Adlaide Hospital   (Australia)

^w ROYAL MELBOURNE HOSPITAL   (Australia)

^x ALFRED HOSPITAL   (Australia)

^y ROYAL NORTH SHORE HOSPITAL   (Australia)

^z WESTMEAD HOSPITAL   (Australia)

^aa ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^ab NORTHWESTERN UNIVERSITY   (United States)

^ac UNIVERSITY OF OTTAWA   (Canada)

^ad UNIVERSITY OF PITTSBURGH   (United States)

^ae STANFORD UNIVERSITY   (United States)

^af UNIVERSITY OF CALIFORNIA   (United States)

^ag UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^ah UNIVERSITY OF VIRGINIA   (United States)

^ai UNIVERSITY OF WASHINGTON   (United States)

^aj UNIVERSITY OF MANITOBA   (Canada)

^ak UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^al ALLEGHENY GENERAL HOSPITAL   (United States)

^am BRIGHAM AND WOMEN S HOSPITAL   (United States)

^an MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ao UNIVERSITY OF FLORIDA   (United States)

^ap UNIVERSITY OF MICHIGAN   (United States)

^aq WASHINGTON UNIVERSITY   (United States)

^ar WAKE FOREST SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA; TRANSCRIPTOME; MEMBRANE PROTEIN; TMEM132B PROTEIN, HUMAN;

ADULT; ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXON; FAMILIAL DISEASE; FEMALE; FUNCTIONAL PREDICTION; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE ONTOLOGY; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN TISSUE; INDEL MUTATION; INTRACRANIAL ANEURYSM; LINKAGE ANALYSIS; MALE; MIDDLE AGED; MULTIPOINT LINKAGE ANALYSIS; ONSET AGE; PATHOGENICITY; PHENOTYPE; PREDICTION; RARE GENETIC VARIATION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE VARIANT; TMEM132B GENE; TRANSCRIPTOMICS; WHOLE EXOME SEQUENCING; BIOLOGY; CHROMOSOMAL MAPPING; CLINICAL TRIAL; COHORT ANALYSIS; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; MOLECULAR GENETICS; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

BASE SEQUENCE; CHROMOSOME MAPPING; COHORT STUDIES; COMPUTATIONAL BIOLOGY; EXOME; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INTRACRANIAL ANEURYSM; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84925860353     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0121104     Document Type: Article

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