Publications | International Center for Genetic Disease at Harvard Medical School

Quantification of the Engraftment Status of Mesenchymal Stem Cells in Glioma Using Dual-Modality Magnetic Resonance Imaging and Bioluminescence Imaging.

Authors :Cao M , Li Y , Tang Y , Chen M , Mao J , Yang X , Li D , Zhang F , Shen J

Published On :2025 Jan

Journal Article

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.

Authors :McDonough GA , Cheng Y , Morillo KS , Doan RN , Zhou Z , Kenny CJ , Foutz A , Kim C , Cohen ML , Appleby BS , Walsh CA , Safar JG , Huang AY , Miller MB

Published On :2024 Jul 24

Journal Article

Comparative transcriptome analysis of acne vulgaris, rosacea, and hidradenitis suppurativa supports high-dose dietary zinc as a therapeutic agent.

Authors :Li L , Hajam I , McGee JS , Tang Z , Zhang Y , Badey N , Mintzer E , Zhang Z , Liu GY , Church GM , Wang Y

Published On :2024 Jul

Journal Article

Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.

Authors :Usoltsev D , Kolosov N , Rotar O , Loboda A , Boyarinova M , Moguchaya E , Kolesova E , Erina A , Tolkunova K , Rezapova V , Molotkov I , Melnik O , Freylikhman O , Paskar N , Alieva A , Baranova E , Bazhenova E , Beliaeva O , Vasilyeva E , Kibkalo S , Skitchenko R , Babenko A , Sergushichev A , Dushina A , Lopina E , Basyrova I , Libis R , Duplyakov D , Cherepanova N , Donner K , Laiho P , Kostareva A , Konradi A , Shlyakhto E , Palotie A , Daly MJ , Artomov M

Published On :2024 Jul 23

Journal Article

Exploring gene content with pangene graphs.

Authors :Li H , Marin M , Farhat MR

Published On :2024 Jul 23

Journal Article

The phosphatidylethanolamine-binding proteins OsMFT1 and OsMFT2 regulate seed dormancy in rice.

Authors :Shen J , Zhang L , Wang H , Guo J , Li Y , Tan Y , Shu Q , Qian Q , Yu H , Chen Y , Song S

Published On :2024 Sep 3

Journal Article

Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk.

Authors :Reeve M , Kanai M , Graham D , Karjalainen J , Luo S , Kolosov N , Adams C , Ritari J , Karczewski K , Kiiskinen T , Fuller Z , Mehtonen J , Kurki M , Khan Z , Partanen J , McCarthy M , Artomov M , Tuomi T , Pirinen M , Kero J , Xavier R , Daly M , Ripatti S , Gen F

Published On :2024 Jul 8

Journal Article

Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.

Authors :Westergaard D , Steinthorsdottir V , Stefansdottir L , Rohde PD , Wu X , Geller F , Tyrmi J , Havulinna AS , Solé-Navais P , Flatley C , Ostrowski SR , Pedersen OB , Erikstrup C , Sørensen E , Mikkelsen C , Bruun MT , Aagaard Jensen B , Brodersen T , Ullum H , FinnGen , Danish Blood Donor Study Genomic Consortium , Estonian Biobank Research Team , Nordic Collaboration for Womens and Reproductive Health , Magnus P , Andreassen OA , Njolstad PR , Kolte AM , Krebs L , Nyegaard M , Hansen TF , Feenstra B , Daly M , Lindgren CM , Thorleifsson G , Stefansson OA , Sveinbjornsson G , Gudbjartsson DF , Thorsteinsdottir U , Banasik K , Jacobsson B , Laisk T , Laivuori H , Stefansson K , Brunak S , Nielsen HS

Published On :2024 Aug

Journal Article Meta-Analysis

Protective alleles and precision healthcare in crewed spaceflight.

Authors :Rutter LA , MacKay MJ , Cope H , Szewczyk NJ , Kim J , Overbey E , Tierney BT , Muratani M , Lamm B , Bezdan D , Paul AM , Schmidt MA , Church GM , Giacomello S , Mason CE

Published On :2024 Jul 22

Journal Article Review

Benefits of Early Hyperbaric Oxygen Therapy on Attention Networks in Patients with Subarachnoid Hemorrhage.

Authors :Li D , Shen J , Yang Z , Zhang Y , Li Z

Published On :2024 Oct

Journal Article

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Authors :Huang Y , Jay KL , Yen-Wen Huang A , Wan J , Jangam SV , Chorin O , Rothschild A , Barel O , Mariani M , Iascone M , Xue H , Undiagnosed Diseases Network , Huang J , Mignot C , Keren B , Saillour V , Mah-Som AY , Sacharow S , Rajabi F , Costin C , Yamamoto S , Kanca O , Bellen HJ , Rosenfeld JA , Palmer CGS , Nelson SF , Wangler MF , Martinez-Agosto JA

Published On :2024 Nov

Journal Article

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Authors :Jurgens JA , Barry BJ , Chan WM , MacKinnon S , Whitman MC , Matos Ruiz PM , Pratt BM , England EM , Pais L , Lemire G , Groopman E , Glaze C , Russell KA , Singer-Berk M , Di Gioia SA , Lee AS , Andrews C , Shaaban S , Wirth MM , Bekele S , Toffoloni M , Bradford VR , Foster EE , Berube L , Rivera-Quiles C , Mensching FM , Sanchis-Juan A , Fu JM , Wong I , Zhao X , Wilson MW , Weisburd B , Lek M , Ocular CCDD Phenotyping Consortium , Brand H , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Robson CD , Hunter DG , Engle EC

Published On :2025 Apr

Journal Article

Natural course of ulcerative colitis in China: Differences from the West?

Authors :Wan J , Shen J , Zhong J , Ge W , Miao Y , Zhang X , Wen Z , Wang Y , Liang J , Wu K

Published On :2024 Nov

Journal Article

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Authors :Stenton SL , Pejaver V , Bergquist T , Biesecker LG , Byrne AB , Nadeau EAW , Greenblatt MS , Harrison SM , Tavtigian SV , Radivojac P , Brenner SE , O'Donnell-Luria A , ClinGen Sequence Variant Interpretation Working Group

Published On :2024 Nov

Journal Article

Ultrasound propagation characteristics within the bone tissue of miniature ultrasound probes: implications for the spinal navigation of pedicle screw placement.

Authors :Li P , Li S , Li Z , Lu W , Shao W , Li Z , Xu Y , Zhang H , Ju B , Shen J , Cui Y

Published On :2024 Jul 1

Journal Article