Publications | International Center for Genetic Disease at Harvard Medical School

3D-printed Titanium Prosthetic Reconstruction of Unilateral Bone Deficiency After Surgical Resection of Tumor Lesions in the Upper Cervical Spine: Clinical Outcomes of Three Consecutive Cases and Narrative Review.

Authors :Shen J , Yang M , Zhong N , Jiao J , Xiao J

Published On :2023 Aug 1

Review Journal Article

High-throughput RNA isoform sequencing using programmed cDNA concatenation.

Authors :Al'Khafaji AM , Smith JT , Garimella KV , Babadi M , Popic V , Sade-Feldman M , Gatzen M , Sarkizova S , Schwartz MA , Blaum EM , Day A , Costello M , Bowers T , Gabriel S , Banks E , Philippakis AA , Boland GM , Blainey PC , Hacohen N

Published On :2024 Apr

Journal Article

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.

Authors :Wang X , Khurshid S , Choi SH , Friedman S , Weng LC , Reeder C , Pirruccello JP , Singh P , Lau ES , Venn R , Diamant N , Di Achille P , Philippakis A , Anderson CD , Ho JE , Ellinor PT , Batra P , Lubitz SA

Published On :2023 Aug

Journal Article

Detecting lesion-specific ischemia in patients with coronary artery disease with computed tomography fractional flow reserve measured at different sites.

Authors :Cai Z , Yu T , Yang Z , Hu H , Lin Y , Zhang H , Chen M , Shi G , Shen J

Published On :2023 Jun 6

Journal Article

Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.

Authors :Vockley J , Burton BK , Berry G , Longo N , Phillips J , Sanchez-Valle A , Chapman KA , Tanpaiboon P , Grunewald S , Murphy E , Lu X , Rahman S , Ray K , Reineking B , Pisani L , Ramirez AN

Published On :2023 Sep

Clinical Trial Journal Article

The landscape of tolerated genetic variation in humans and primates.

Authors :Gao H , Hamp T , Ede J , Schraiber JG , McRae J , Singer-Berk M , Yang Y , Dietrich ASD , Fiziev PP , Kuderna LFK , Sundaram L , Wu Y , Adhikari A , Field Y , Chen C , Batzoglou S , Aguet F , Lemire G , Reimers R , Balick D , Janiak MC , Kuhlwilm M , Orkin JD , Manu S , Valenzuela A , Bergman J , Rousselle M , Silva FE , Agueda L , Blanc J , Gut M , de Vries D , Goodhead I , Harris RA , Raveendran M , Jensen A , Chuma IS , Horvath JE , Hvilsom C , Juan D , Frandsen P , de Melo FR , Bertuol F , Byrne H , Sampaio I , Farias I , do Amaral JV , Messias M , da Silva MNF , Trivedi M , Rossi R , Hrbek T , Andriaholinirina N , Rabarivola CJ , Zaramody A , Jolly CJ , Phillips-Conroy J , Wilkerson G , Abee C , Simmons JH , Fernandez-Duque E , Kanthaswamy S , Shiferaw F , Wu D , Zhou L , Shao Y , Zhang G , Keyyu JD , Knauf S , Le MD , Lizano E , Merker S , Navarro A , Bataillon T , Nadler T , Khor CC , Lee J , Tan P , Lim WK , Kitchener AC , Zinner D , Gut I , Melin A , Guschanski K , Schierup MH , Beck RMD , Umapathy G , Roos C , Boubli JP , Lek M , Sunyaev S , O'Donnell-Luria A , Rehm HL , Xu J , Rogers J , Marques-Bonet T , Farh KK

Published On :2023 Jun 2

Journal Article

Rare penetrant mutations confer severe risk of common diseases.

Authors :Fiziev PP , McRae J , Ulirsch JC , Dron JS , Hamp T , Yang Y , Wainschtein P , Ni Z , Schraiber JG , Gao H , Cable D , Field Y , Aguet F , Fasnacht M , Metwally A , Rogers J , Marques-Bonet T , Rehm HL , O'Donnell-Luria A , Khera AV , Farh KK

Published On :2023 Jun 2

Journal Article

Discordant calls across genotype discovery approaches elucidate variants with systematic errors.

Authors :Atkinson EG , Artomov M , Loboda AA , Rehm HL , MacArthur DG , Karczewski KJ , Neale BM , Daly MJ

Published On :2023 Jun

Journal Article

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.

Authors :Dias CM , Issac B , Sun L , Lukowicz A , Talukdar M , Akula SK , Miller MB , Walsh K , Rockowitz S , Walsh CA

Published On :2023 Jun 6

Journal Article

Polarity-Tunable Field Effect Phototransistors.

Authors :Fu J , Jiang H , Nie C , Sun F , Tang L , Li Y , Li Z , Xiong W , Yang J , Li X , Zhou D , Shen J , Feng S , Shi H , Mulvaney P , Wei X

Published On :2023 Jun 14

Journal Article

Improved isolation of extracellular vesicles by removal of both free proteins and lipoproteins.

Authors :Ter-Ovanesyan D , Gilboa T , Budnik B , Nikitina A , Whiteman S , Lazarovits R , Trieu W , Kalish D , Church GM , Walt DR

Published On :2023 May 30

Journal Article

The impact of rare protein coding genetic variation on adult cognitive function.

Authors :Chen CY , Tian R , Ge T , Lam M , Sanchez-Andrade G , Singh T , Urpa L , Liu JZ , Sanderson M , Rowley C , Ironfield H , Fang T , Biogen Biobank Team , SUPER-Finland study , Northern Finland Intellectual Disability study , Daly M , Palotie A , Tsai EA , Huang H , Hurles ME , Gerety SS , Lencz T , Runz H

Published On :2023 Jun

Journal Article

Amygdala downregulation training using fMRI neurofeedback in post-traumatic stress disorder: a randomized, double-blind trial.

Authors :Zhao Z , Duek O , Seidemann R , Gordon C , Walsh C , Romaker E , Koller WN , Horvath M , Awasthi J , Wang Y , O'Brien E , Fichtenholtz H , Hampson M , Harpaz-Rotem I

Published On :2023 May 25

Randomized Controlled Trial Journal Article

Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.

Authors :Wu Y , Xia Y , Yue C , Xin T , Wang Q , Zhang H , Shen C , Shen M , Gu Y , Shen J

Published On :2023 Jun

Journal Article

Modulation of Brain Network Topological Properties in Knee Osteoarthritis by Electroacupuncture in Rats.

Authors :Zhang JP , Shen J , Xiang YT , Xing XX , Kang BX , Zhao C , Wu JJ , Zheng MX , Hua XY , Xiao LB , Xu JG

Published On :2023

Journal Article