Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Cell Reports

Volumn 12, Issue 7, 2015, Pages 1169-1183

  Gonzaga Jauregui, Claudia ^a,b   Harel, Tamar ^a   Gambin, Tomasz ^a   Kousi, Maria ^b   Griffin, Laurie B ^c   Francescatto, Ludmila ^b   Ozes, Burcak ^d   Karaca, Ender ^a   Jhangiani, Shalini N ^a   Bainbridge, Matthew N ^a   Lawson, Kim S ^e   Pehlivan, Davut ^a   Okamoto, Yuji ^a   Withers, Marjorie ^a   Mancias, Pedro ^e   Slavotinek, Anne ^f   Reitnauer, Pamela J ^g   Goksungur, Meryem T ^h   Shy, Michael ⁱ   Crawford, Thomas O ^j   Koenig, Michel ^k,l   Willer, Jason ^b   Flores, Brittany N ^c   Pediaditrakis, Igor ^b   Us, Onder ^m   Wiszniewski, Wojciech ^a   Parman, Yesim ^h   Antonellis, Anthony ^c   Muzny, Donna M ^a   Katsanis, Nicholas ^b   Battaloglu, Esra ^d   Boerwinkle, Eric ^a,e   Gibbs, Richard A ^a   Lupski, James R ^a,n   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d BOGAZICI UNIVERSITY   (Turkey)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF NORTH CAROLINA AT GREENSBORO   (United States)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF IOWA   (United States)

^j JOHNS HOPKINS CHILDREN S CENTER   (United States)

^k UNIVERSITÉ DE STRASBOURG   (France)

^l INSERM   (France)

^m Acibadem Kozyatagi Hospital   (Turkey)

ⁿ TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COMBINATORIAL LIBRARY; CONTROLLED STUDY; ETHNICITY; EXOME; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE INTERACTION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IN VIVO STUDY; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ZEBRA FISH; ANIMAL; GENE REPRESSION; GENETIC LOAD; GENETIC VARIATION; GENETICS; MUTATION; PEDIGREE; PENETRANCE; PERIPHERAL NEUROPATHY; PHENOTYPE;

DNAJB5 PROTEIN, HUMAN; HEAT SHOCK PROTEIN 40; MYELIN BASIC PROTEIN; PMP2 PROTEIN, HUMAN; SERINE PALMITOYLTRANSFERASE; SPTLC3 PROTEIN, HUMAN;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GENETIC LOAD; GENETIC VARIATION; HSP40 HEAT-SHOCK PROTEINS; HUMANS; MALE; MUTATION; MYELIN P2 PROTEIN; PEDIGREE; PENETRANCE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SERINE C-PALMITOYLTRANSFERASE; SUPPRESSION, GENETIC; ZEBRAFISH;

EID: 84941023992     PISSN: None     EISSN: 22111247     Source Type: Journal    
DOI: 10.1016/j.celrep.2015.07.023     Document Type: Article

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