Publications | International Center for Genetic Disease at Harvard Medical School

Crystal structure of the Redβ C-terminal domain in complex with λ Exonuclease reveals an unexpected homology with λ Orf and an interaction with Escherichia coli single stranded DNA binding protein.

Authors :Caldwell BJ , Zakharova E , Filsinger GT , Wannier TM , Hempfling JP , Chun-Der L , Pei D , Church GM , Bell CE

Published On :2019 Feb 28

Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Predictive value of pretreatment MRI texture analysis in patients with primary nasopharyngeal carcinoma.

Authors :Mao J , Fang J , Duan X , Yang Z , Cao M , Zhang F , Lu L , Zhang X , Wu X , Ding Y , Shen J

Published On :2019 Aug

Journal Article

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Authors :Ah Mew N , Cnaan A , McCarter R , Choi H , Glass P , Rice K , Scavo L , Gillespie CW , Diaz GA , Berry GT , Wong D , Konczal L , McCandless SE , Coughlin Ii CR , Weisfeld-Adams JD , Ficicioglu C , Yudkoff M , Enns GM , Lichter-Konecki U , Gallagher R , Tuchman M

Published On :2018 Dec 20

Journal Article

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Authors :Whiffin N , Roberts AM , Minikel E , Zappala Z , Walsh R , O'Donnell-Luria AH , Karczewski KJ , Harrison SM , Thomson KL , Sage H , Ing AY , Barton PJR , Funke B , Cook SA , MacArthur DG , Ware JS

Published On :2019 Jan 3

Letter Research Support, Non-U.S. Gov't Comment

A suppurative thyroiditis and perineal subcutaneous abscess related with aspergillus fumigatus: a case report and literature review.

Authors :Tan J , Shen J , Fang Y , Zhu L , Liu Y , Gong Y , Zhu H , Hu Z , Wu G

Published On :2018 Dec 27

Case Reports Journal Article Review

Loss of response to scheduled infliximab therapy for Crohn's disease in adults: A systematic review and meta-analysis.

Authors :Zhang QW , Shen J , Zheng Q , Ran ZH

Published On :2019 Feb

Journal Article Meta-Analysis Systematic Review

CRISPR-C: circularization of genes and chromosome by CRISPR in human cells.

Authors :Møller HD , Lin L , Xiang X , Petersen TS , Huang J , Yang L , Kjeldsen E , Jensen UB , Zhang X , Liu X , Xu X , Wang J , Yang H , Church GM , Bolund L , Regenberg B , Luo Y

Published On :2018 Dec 14

Journal Article Research Support, Non-U.S. Gov't

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Authors :Gartner V , Markello TC , Macnamara E , De Biase A , Thurm A , Joseph L , Beggs A , Schmahmann JD , Berry GT , Anselm I , Boslet E , Tifft CJ , Gahl WA , Lee PR

Published On :2018 Dec

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Authors :Longo N , Dimmock D , Levy H , Viau K , Bausell H , Bilder DA , Burton B , Gross C , Northrup H , Rohr F , Sacharow S , Sanchez-Valle A , Stuy M , Thomas J , Vockley J , Zori R , Harding CO

Published On :2019 Aug

Journal Article Research Support, Non-U.S. Gov't Consensus Statement

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 Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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 Research Support, Non-U.S. Gov't

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