Publications | International Center for Genetic Disease at Harvard Medical School

Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans.

Authors :Weghorn D , Balick DJ , Cassa C , Kosmicki JA , Daly MJ , Beier DR , Sunyaev SR

Published On :2019 Aug 1

Journal Article

Meta-Analysis of Prognosis of Different Treatments for Symptomatic Moyamoya Disease.

Authors :Li Q , Gao Y , Xin W , Zhou Z , Rong H , Qin Y , Li K , Zhou Y , Wang J , Xiong J , Dong X , Yang M , Liu Y , Shen J , Wang G , Song A , Zhang J

Published On :2019 Jul

Journal Article Meta-Analysis Review

Quantification of in vivo transverse relaxation of glutamate in the frontal cortex of human brain by radio frequency pulse-driven longitudinal steady state.

Authors :Li N , Li L , Zhang Y , Ferraris Araneta M , Johnson C , Shen J

Published On :2019

Clinical Trial Journal Article

Preoperative Diagnosis of Regional Lymph Node Metastasis of Colorectal Cancer With Quantitative Parameters From Dual-Energy CT.

Authors :Yang Z , Zhang X , Fang M , Li G , Duan X , Mao J , Shen J

Published On :2019 Jul

Journal Article

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Authors :Spataro R , Kousi M , Farhan SMK , Willer JR , Ross JP , Dion PA , Rouleau GA , Daly MJ , Neale BM , La Bella V , Katsanis N

Published On :2019 Apr 16

Journal Article

Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.

Authors :Cade BE , Chen H , Stilp AM , Louie T , Ancoli-Israel S , Arens R , Barfield R , Below JE , Cai J , Conomos MP , Evans DS , Frazier-Wood AC , Gharib SA , Gleason KJ , Gottlieb DJ , Hillman DR , Johnson WC , Lederer DJ , Lee J , Loredo JS , Mei H , Mukherjee S , Patel SR , Post WS , Purcell SM , Ramos AR , Reid KJ , Rice K , Shah NA , Sofer T , Taylor KD , Thornton TA , Wang H , Yaffe K , Zee PC , Hanis CL , Palmer LJ , Rotter JI , Stone KL , Tranah GJ , Wilson JG , Sunyaev SR , Laurie CC , Zhu X , Saxena R , Lin X , Redline S

Published On :2019 Apr

Journal Article Meta-Analysis

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Authors :Schmitz-Abe K , Li Q , Rosen SM , Nori N , Madden JA , Genetti CA , Wojcik MH , Ponnaluri S , Gubbels CS , Picker JD , O'Donnell-Luria AH , Yu TW , Bodamer O , Brownstein CA , Beggs AH , Agrawal PB

Published On :2019 Sep

Journal Article

Excessive iodine intake is associated with formation of thyroid nodules in pregnant Chinese women.

Authors :Gao M , Chen W , Sun H , Fan L , Wang W , Du C , Chen Y , Lin L , Pearce EN , Shen J , Cheng Y , Wang C , Zhang W

Published On :2019 Jun

Journal Article

Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders.

Authors :Nudel R , Benros ME , Krebs MD , Allesøe RL , Lemvigh CK , Bybjerg-Grauholm J , Børglum AD , Daly MJ , Nordentoft M , Mors O , Hougaard DM , Mortensen PB , Buil A , Werge T , Rasmussen S , Thompson WK

Published On :2019 Sep

Journal Article