Publications | International Center for Genetic Disease at Harvard Medical School

A Model to Evaluate the Effectiveness of the Maritime Shipping Risk Mitigation System by Entropy-Based Capability Degradation Analysis.

Authors :Shen J , Ma X , Qiao W

Published On :2022 Jul 30

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

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection.

Authors :Vanderwall RA , Schwartz A , Kipnis L , Skefos CM , Stokes SM , Bhulani N , Weitz M , Gelman R , Garber JE , Rana HQ

Published On :2022 Aug

Journal Article

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

Authors :Keehan L , Haviland I , Gofin Y , Swanson LC , El Achkar CM , Schreiber J , VanNoy GE , O'Heir E , O'Donnell-Luria A , Lewis RA , Magoulas P , Tran A , Azamian MS , Chao HT , Pham L , Samaco RC , Elsea S , Thorpe E , Kesari A , Perry D , Lee B , Lalani SR , Rosenfeld JA , Olson HE , Burrage LC , Undiagnosed Diseases Network

Published On :2022 Dec

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

miR-383-5p Regulated by the Transcription Factor CTCF Affects Neuronal Impairment in Cerebral Ischemia by Mediating Deacetylase HDAC9 Activity.

Authors :Shen J , Han Q , Li W , Chen X , Lu J , Zheng J , Xue S

Published On :2022 Oct

Journal Article

Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.

Authors :Rajagopal VM , Duan J , Vilar-Ribó L , Grove J , Zayats T , Ramos-Quiroga JA , Satterstrom FK , Artigas MS , Bybjerg-Grauholm J , Bækvad-Hansen M , Als TD , Rosengren A , Daly MJ , Neale BM , Nordentoft M , Werge T , Mors O , Hougaard DM , Mortensen PB , Ribasés M , Børglum AD , Demontis D

Published On :2022 Aug

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

Hemodynamic and anatomic changes after fetal aortic valvuloplasty are associated with procedural success and postnatal biventricular circulation.

Authors :Bradford VR , Tworetzky W , Callahan R , Wilkins-Haug LE , Benson CB , Porras D , Guseh SH , Lu M , Sleeper LA , Gellis L , Friedman KG

Published On :2022 Sep

Journal Article

Multiplex base editing to convert TAG into TAA codons in the human genome.

Authors :Chen Y , Hysolli E , Chen A , Casper S , Liu S , Yang K , Liu C , Church G

Published On :2022 Aug 2

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

A cross-disorder dosage sensitivity map of the human genome.

Authors :Collins RL , Glessner JT , Porcu E , Lepamets M , Brandon R , Lauricella C , Han L , Morley T , Niestroj LM , Ulirsch J , Everett S , Howrigan DP , Boone PM , Fu J , Karczewski KJ , Kellaris G , Lowther C , Lucente D , Mohajeri K , Nõukas M , Nuttle X , Samocha KE , Trinh M , Ullah F , Võsa U , Epi25 Consortium , Estonian Biobank Research Team , Hurles ME , Aradhya S , Davis EE , Finucane H , Gusella JF , Janze A , Katsanis N , Matyakhina L , Neale BM , Sanders D , Warren S , Hodge JC , Lal D , Ruderfer DM , Meck J , Mägi R , Esko T , Reymond A , Kutalik Z , Hakonarson H , Sunyaev S , Brand H , Talkowski ME

Published On :2022 Aug 4

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

Hepatopancreatoduodenectomy for advanced biliary malignancies.

Authors :Wu X , Li M , Wu W , Wang X , Li H , Bao R , Shu Y , Shen J , Gu J , Wang X , Gong W , Peng S , Liu Y

Published On :2022 Dec 5

Journal Article

Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans.

Authors :Lemmelä S , Wigmore EM , Benner C , Havulinna AS , Ong RMY , Kempf T , Wollert KC , Blankenberg S , Zeller T , Peters JE , Salomaa V , Fritsch M , March R , Palotie A , Daly M , Butterworth AS , Kinnunen M , Paul DS , Matakidou A

Published On :2022 Aug 2

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

Influence of epigenetics on periodontitis and peri-implantitis pathogenesis.

Authors :Larsson L , Kavanagh NM , Nguyen TVN , Castilho RM , Berglundh T , Giannobile WV

Published On :2022 Oct

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

Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.

Authors :Nekoui M , Pirruccello JP , Di Achille P , Choi SH , Friedman SN , Nauffal V , Ng K , Batra P , Ho JE , Philippakis AA , Lubitz SA , Lindsay ME , Ellinor PT

Published On :2022 Aug 2

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

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.

Authors :Bae T , Fasching L , Wang Y , Shin JH , Suvakov M , Jang Y , Norton S , Dias C , Mariani J , Jourdon A , Wu F , Panda A , Pattni R , Chahine Y , Yeh R , Roberts RC , Huttner A , Kleinman JE , Hyde TM , Straub RE , Walsh CA , Brain Somatic Mosaicism Network§ , Urban AE , Leckman JF , Weinberger DR , Vaccarino FM , Abyzov A

Published On :2022 Jul 29

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

Ultrahigh Photogain Short-Wave Infrared Detectors Enabled by Integrating Graphene and Hyperdoped Silicon.

Authors :Jiang H , Wang M , Fu J , Li Z , Shaikh MS , Li Y , Nie C , Sun F , Tang L , Yang J , Qin T , Zhou D , Shen J , Sun J , Feng S , Zhu M , Kentsch U , Zhou S , Shi H , Wei X

Published On :2022 Aug 23

Journal Article

Toxicity of different forms of antimony to rice plants: Photosynthetic electron transfer, gas exchange, photosynthetic efficiency, and carbon assimilation combined with metabolome analysis.

Authors :Zhu Y , Li Z , Shen J , Wu K , Zhao P , Wu Z , Liu Z , Yang J , Liu H , Rensing C , Feng R

Published On :2022 Sep 5

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