The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

American Journal of Human Genetics

Volumn 97, Issue 2, 2015, Pages 199-215

  Chong, Jessica X ^a   Buckingham, Kati J ^a   Jhangiani, Shalini N ^b   Boehm, Corinne ^c   Sobreira, Nara ^c   Smith, Joshua D ^d   Harrell, Tanya M ^a   McMillin, Margaret J ^a   Wiszniewski, Wojciech ^b   Gambin, Tomasz ^b   Coban Akdemir, Zeynep H ^b   Doheny, Kimberly ^c   Scott, Alan F ^c   Avramopoulos, Dimitri ^c   Chakravarti, Aravinda ^c   Hoover Fong, Julie ^c   Mathews, Debra ^e   Witmer, P Dane ^c   Ling, Hua ^c   Hetrick, Kurt ^c   Watkins, Lee ^c   Patterson, Karynne E ^d   Reinier, Frederic ^d   Blue, Elizabeth ^a   Muzny, Donna ^b   Kircher, Martin ^d   Bilguvar, Kaya ^f   López Giráldez, Francesc ^f   Sutton, V Reid ^b   Tabor, Holly K ^a,d,g   Leal, Suzanne M ^b   Gunel, Murat ^f   Mane, Shrikant ^f   Gibbs, Richard A ^b   Boerwinkle, Eric ^b,h   Hamosh, Ada ^c   Shendure, Jay ^d   Lupski, James R ^b   Lifton, Richard P ^f,i   Valle, David ^c   Nickerson, Deborah A ^d   Bamshad, Michael J ^a,d,j   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^h UNIVERSITY OF TEXAS   (United States)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^j SEATTLE CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CLINICAL FEATURE; CORONARY ARTERY DISEASE; DIABETES MELLITUS; EXOME; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOMICS; HUMAN; HYPERTENSION; INHERITANCE; MEDICAL GENETICS; MENDELIAN DISEASE; MENDELIAN PHENOTYPE; MOLECULAR DIAGNOSIS; OBESITY; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; GENETICS; PROCEDURES; TRENDS;

PROTEIN;

GENETIC DISEASES, INBORN; GENETICS, MEDICAL; HUMANS; PHENOTYPE; PROTEINS;

EID: 84938965200     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.06.009     Document Type: Review

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