Publications | International Center for Genetic Disease at Harvard Medical School

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Authors :Gudmundsson S , Singer-Berk M , Stenton SL , Goodrich JK , Wilson MW , Einson J , Watts NA , Genome Aggregation Database Consortium , Lappalainen T , Rehm HL , MacArthur DG , O'Donnell-Luria A

Published On :2024 Jun 13

Journal Article Preprint

Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification.

Authors :Qian X , Coleman K , Jiang S , Kriz AJ , Marciano JH , Luo C , Cai C , Manam MD , Caglayan E , Otani A , Ghosh U , Shao DD , Andersen RE , Neil JE , Johnson R , LeFevre A , Hecht JL , Miller MB , Sun L , Stringer C , Li M , Walsh CA

Published On :2024 Jun 10

Journal Article Preprint

Synthetic genomes unveil the effects of synonymous recoding.

Authors :Nyerges A , Chiappino-Pepe A , Budnik B , Baas-Thomas M , Flynn R , Yan S , Ostrov N , Liu M , Wang M , Zheng Q , Hu F , Chen K , Rudolph A , Chen D , Ahn J , Spencer O , Ayalavarapu V , Tarver A , Harmon-Smith M , Hamilton M , Blaby I , Yoshikuni Y , Hajian B , Jin A , Kintses B , Szamel M , Seregi V , Shen Y , Li Z , Church GM

Published On :2024 Jun 16

Journal Article Preprint

ARX regulates cortical interneuron differentiation and migration.

Authors :Lim Y , Akula SK , Myers AK , Chen C , Rafael KA , Walsh CA , Golden JA , Cho G

Published On :2024 Jun 6

Journal Article Preprint

Exploring the Correlation Between Varied Serum Iodine Nutritional Levels and Anti-Thyroglobulin Antibodies.

Authors :Song Q , Xu T , Wang Y , Wei H , Tan F , Chen Y , Fang F , Cui T , Pan Z , Guo X , Chen W , Shen J , Zhang W , Tan L

Published On :2025 Mar

Journal Article

Generation and Characterization of Induced Pluripotent Stem Cells Carrying An ASXL1 Mutation.

Authors :Wang W , Zhang X , Li Y , Shen J , Li Y , Xing W , Bai J , Shi J , Zhou Y

Published On :2024 Oct

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

Study on the Flow Characteristics of Heavy Oil-Water Two-Phase Flow in the Horizontal Pipeline.

Authors :Yin X , Li J , Shen J , Huang X , Zhou F , Zhao Z , Su M , Dong X , Jing J , Sun J

Published On :2024 Jun 11

Journal Article

Mean Apparent Propagator MRI: Quantitative Assessment of Tumor-Stroma Ratio in Invasive Ductal Breast Carcinoma.

Authors :Zhang X , Qiu Y , Jiang W , Yang Z , Wang M , Li Q , Liu Y , Yan X , Yang G , Shen J

Published On :2024 Jul

Journal Article

Single nucleotide variation catalog from clinical isolates mapped on tertiary and quaternary structures of ESX-1-related proteins reveals critical regions as putative Mtb therapeutic targets.

Authors :Tzfadia O , Gijsbers A , Vujkovic A , Snobre J , Vargas R , Dewaele K , Meehan CJ , Farhat M , Hakke S , Peters PJ , de Jong BC , Siroy A , Ravelli RBG

Published On :2024 Aug 6

Journal Article

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.

Authors :Villamor-Payà M , Sanchiz-Calvo M , Smak J , Pais L , Sud M , Shankavaram U , Lovgren AK , Austin-Tse C , Ganesh VS , Gay M , Vilaseca M , Arauz-Garofalo G , Palenzuela L , VanNoy G , O'Donnell-Luria A , Stracker TH

Published On :2024 Jun 21

Journal Article

Genetic drivers and cellular selection of female mosaic X chromosome loss.

Authors :Liu A , Genovese G , Zhao Y , Pirinen M , Zekavat SM , Kentistou KA , Yang Z , Yu K , Vlasschaert C , Liu X , Brown DW , Hudjashov G , Gorman BR , Dennis J , Zhou W , Momozawa Y , Pyarajan S , Tuzov V , Pajuste FD , Aavikko M , Sipilä TP , Ghazal A , Huang WY , Freedman ND , Song L , Gardner EJ , FinnGen , Estonian Biobank Research Team , Breast Cancer Association Consortium , Million Veteran Program , Sankaran VG , Palotie A , Ollila HM , Tukiainen T , Chanock SJ , Mägi R , Natarajan P , Daly MJ , Bick A , McCarroll SA , Terao C , Loh PR , Ganna A , Perry JRB , Machiela MJ

Published On :2024 Jul

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

Longitudinal multi-omics analysis of host microbiome architecture and immune responses during short-term spaceflight.

Authors :Tierney BT , Kim J , Overbey EG , Ryon KA , Foox J , Sierra MA , Bhattacharya C , Damle N , Najjar D , Park J , Garcia Medina JS , Houerbi N , Meydan C , Wain Hirschberg J , Qiu J , Kleinman AS , Al-Ghalith GA , MacKay M , Afshin EE , Dhir R , Borg J , Gatt C , Brereton N , Readhead BP , Beyaz S , Venkateswaran KJ , Wiseman K , Moreno J , Boddicker AM , Zhao J , Lajoie BR , Scott RT , Altomare A , Kruglyak S , Levy S , Church GM , Mason CE

Published On :2024 Jul

Journal Article

Spatial multi-omics of human skin reveals KRAS and inflammatory responses to spaceflight.

Authors :Park J , Overbey EG , Narayanan SA , Kim J , Tierney BT , Damle N , Najjar D , Ryon KA , Proszynski J , Kleinman A , Hirschberg JW , MacKay M , Afshin EE , Granstein R , Gurvitch J , Hudson BM , Rininger A , Mullane S , Church SE , Meydan C , Church G , Beheshti A , Mateus J , Mason CE

Published On :2024 Jun 11

Journal Article

The Space Omics and Medical Atlas (SOMA) and international astronaut biobank.

Authors :Overbey EG , Kim J , Tierney BT , Park J , Houerbi N , Lucaci AG , Garcia Medina S , Damle N , Najjar D , Grigorev K , Afshin EE , Ryon KA , Sienkiewicz K , Patras L , Klotz R , Ortiz V , MacKay M , Schweickart A , Chin CR , Sierra MA , Valenzuela MF , Dantas E , Nelson TM , Cekanaviciute E , Deards G , Foox J , Narayanan SA , Schmidt CM , Schmidt MA , Schmidt JC , Mullane S , Tigchelaar SS , Levitte S , Westover C , Bhattacharya C , Lucotti S , Wain Hirschberg J , Proszynski J , Burke M , Kleinman AS , Butler DJ , Loy C , Mzava O , Lenz J , Paul D , Mozsary C , Sanders LM , Taylor LE , Patel CO , Khan SA , Suhail Mohamad M , Byhaqui SGA , Aslam B , Gajadhar AS , Williamson L , Tandel P , Yang Q , Chu J , Benz RW , Siddiqui A , Hornburg D , Blease K , Moreno J , Boddicker A , Zhao J , Lajoie B , Scott RT , Gilbert RR , Lai Polo SH , Altomare A , Kruglyak S , Levy S , Ariyapala I , Beer J , Zhang B , Hudson BM , Rininger A , Church SE , Beheshti A , Church GM , Smith SM , Crucian BE , Zwart SR , Matei I , Lyden DC , Garrett-Bakelman F , Krumsiek J , Chen Q , Miller D , Shuga J , Williams S , Nemec C , Trudel G , Pelchat M , Laneuville O , De Vlaminck I , Gross S , Bolton KL , Bailey SM , Granstein R , Furman D , Melnick AM , Costes SV , Shirah B , Yu M , Menon AS , Mateus J , Meydan C , Mason CE

Published On :2024 Aug

Journal Article Research Support, N.I.H., Extramural

A second space age spanning omics, platforms and medicine across orbits.

Authors :Mason CE , Green J , Adamopoulos KI , Afshin EE , Baechle JJ , Basner M , Bailey SM , Bielski L , Borg J , Borg J , Broddrick JT , Burke M , Caicedo A , Castañeda V , Chatterjee S , Chin CR , Church G , Costes SV , De Vlaminck I , Desai RI , Dhir R , Diaz JE , Etlin SM , Feinstein Z , Furman D , Garcia-Medina JS , Garrett-Bakelman F , Giacomello S , Gupta A , Hassanin A , Houerbi N , Irby I , Javorsky E , Jirak P , Jones CW , Kamal KY , Kangas BD , Karouia F , Kim J , Kim JH , Kleinman AS , Lam T , Lawler JM , Lee JA , Limoli CL , Lucaci A , MacKay M , McDonald JT , Melnick AM , Meydan C , Mieczkowski J , Muratani M , Najjar D , Othman MA , Overbey EG , Paar V , Park J , Paul AM , Perdyan A , Proszynski J , Reynolds RJ , Ronca AE , Rubins K , Ryon KA , Sanders LM , Glowe PS , Shevde Y , Schmidt MA , Scott RT , Shirah B , Sienkiewicz K , Sierra MA , Siew K , Theriot CA , Tierney BT , Venkateswaran K , Hirschberg JW , Walsh SB , Walter C , Winer DA , Yu M , Zea L , Mateus J , Beheshti A

Published On :2024 Aug

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