Publications | International Center for Genetic Disease at Harvard Medical School

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

Authors :An JY , Lin K , Zhu L , Werling DM , Dong S , Brand H , Wang HZ , Zhao X , Schwartz GB , Collins RL , Currall BB , Dastmalchi C , Dea J , Duhn C , Gilson MC , Klei L , Liang L , Markenscoff-Papadimitriou E , Pochareddy S , Ahituv N , Buxbaum JD , Coon H , Daly MJ , Kim YS , Marth GT , Neale BM , Quinlan AR , Rubenstein JL , Sestan N , State MW , Willsey AJ , Talkowski ME , Devlin B , Roeder K , Sanders SJ

Published On :2018 Dec 14

Journal Article

Hybrid graphene heterojunction photodetector with high infrared responsivity through barrier tailoring.

Authors :Zhou Q , Shen J , Liu X , Li Z , Jiang H , Feng S , Feng W , Wang Y , Wei D

Published On :2019 May 10

Journal Article

Using Audience Response Systems for Real-Time Learning Assessments During Surgical Morbidity and Mortality Conference.

Authors :Leeds IL , DiBrito SR , Jones CD , Higgins RSD , Haut ER

Published On :2018 Nov

Journal Article

A Convenient and Versatile Amino-Acid-Boosted Biomimetic Strategy for the Nondestructive Encapsulation of Biomacromolecules within Metal-Organic Frameworks.

Authors :Chen G , Huang S , Kou X , Wei S , Huang S , Jiang S , Shen J , Zhu F , Ouyang G

Published On :2019 Jan 28

Journal Article

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Authors :Turnpenny PD , Wright MJ , Sloman M , Caswell R , van Essen AJ , Gerkes E , Pfundt R , White SM , Shaul-Lotan N , Carpenter L , Schaefer GB , Fryer A , Innes AM , Forbes KP , Chung WK , McLaughlin H , Henderson LB , Roberts AE , Heath KE , Paumard-Hernández B , Gener B , DDD study , Fawcett KA , Gjergja-Juraški R , Pilz DT , Fry AE

Published On :2018 Dec 6

Journal Article Published Erratum

Exploration of the appropriate recommended nutrient intake of iodine in healthy Chinese women: an iodine balance experiment.

Authors :Tan L , Tian X , Wang W , Guo X , Sang Z , Li X , Zhang P , Sun Y , Tang C , Xu Z , Shen J , Zhang W

Published On :2019 Mar 14

Journal Article

Effects of potassium permanganate conditioning on dewatering and rheological behavior of pulping activated sludge: mechanism and feasibility.

Authors :Zhang X , Cai H , Shen J , Zhang H

Published On :2018 Dec 7

Journal Article

Silica Aerogel Monoliths Derived from Silica Hydrosol with Various Surfactants.

Authors :Chen D , Wang X , Ding W , Zou W , Zhu Q , Shen J

Published On :2018 Dec 4

Journal Article

The Genetic Landscape of Diamond-Blackfan Anemia.

Authors :Ulirsch JC , Verboon JM , Kazerounian S , Guo MH , Yuan D , Ludwig LS , Handsaker RE , Abdulhay NJ , Fiorini C , Genovese G , Lim ET , Cheng A , Cummings BB , Chao KR , Beggs AH , Genetti CA , Sieff CA , Newburger PE , Niewiadomska E , Matysiak M , Vlachos A , Lipton JM , Atsidaftos E , Glader B , Narla A , Gleizes PE , O'Donohue MF , Montel-Lehry N , Amor DJ , McCarroll SA , O'Donnell-Luria AH , Gupta N , Gabriel SB , MacArthur DG , Lander ES , Lek M , Da Costa L , Nathan DG , Korostelev AA , Do R , Sankaran VG , Gazda HT

Published On :2018 Dec 6

Journal Article

Comparative evidence for the independent evolution of hair and sweat gland traits in primates.

Authors :Kamberov YG , Guhan SM , DeMarchis A , Jiang J , Wright SS , Morgan BA , Sabeti PC , Tabin CJ , Lieberman DE

Published On :2018 Dec

Journal Article

Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations.

Authors :Seplyarskiy VB , Akkuratov EE , Akkuratova N , Andrianova MA , Nikolaev SI , Bazykin GA , Adameyko I , Sunyaev SR

Published On :2019 Jan

Journal Article

Genome-wide discovery of epistatic loci affecting antibiotic resistance in Neisseria gonorrhoeae using evolutionary couplings.

Authors :Schubert B , Maddamsetti R , Nyman J , Farhat MR , Marks DS

Published On :2019 Feb

Journal Article

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Authors :Almontashiri NAM , Berry GT , Majzoub J , Peake RWA

Published On :2018 Dec

Journal Article

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Authors :Demontis D , Walters RK , Martin J , Mattheisen M , Als TD , Agerbo E , Baldursson G , Belliveau R , Bybjerg-Grauholm J , Bækvad-Hansen M , Cerrato F , Chambert K , Churchhouse C , Dumont A , Eriksson N , Gandal M , Goldstein JI , Grasby KL , Grove J , Gudmundsson OO , Hansen CS , Hauberg ME , Hollegaard MV , Howrigan DP , Huang H , Maller JB , Martin AR , Martin NG , Moran J , Pallesen J , Palmer DS , Pedersen CB , Pedersen MG , Poterba T , Poulsen JB , Ripke S , Robinson EB , Satterstrom FK , Stefansson H , Stevens C , Turley P , Walters GB , Won H , Wright MJ , ADHD Working Group of the Psychiatric Genomics Consortium (PGC) , Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium , 23andMe Research Team , Andreassen OA , Asherson P , Burton CL , Boomsma DI , Cormand B , Dalsgaard S , Franke B , Gelernter J , Geschwind D , Hakonarson H , Haavik J , Kranzler HR , Kuntsi J , Langley K , Lesch KP , Middeldorp C , Reif A , Rohde LA , Roussos P , Schachar R , Sklar P , Sonuga-Barke EJS , Sullivan PF , Thapar A , Tung JY , Waldman ID , Medland SE , Stefansson K , Nordentoft M , Hougaard DM , Werge T , Mors O , Mortensen PB , Daly MJ , Faraone SV , Børglum AD , Neale BM

Published On :2019 Jan

Journal Article Meta-Analysis

Reply to 'Selective effects of heterozygous protein-truncating variants'.

Authors :Cassa CA , Weghorn D , Balick DJ , Jordan DM , Nusinow D , Samocha KE , O'Donnell-Luria A , MacArthur DG , Daly MJ , Beier DR , Sunyaev SR

Published On :2019 Jan

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