Publications | International Center for Genetic Disease at Harvard Medical School

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Authors :Sanchis-Juan A , Mostovoy Y , Stenton SL , Ganesh VS , Weisburd B , Yenkin A , Kurtas NE , Zhao X , Shin E , Boone PM , Su H , Lee AS , Yadav R , Allan K , Argilli E , Austin-Tse C , Barry BJ , Baxter S , Beggs AH , Bell KM , Blankenmeister B , Bönnemann CG , Brownstein CA , Bujakowska KM , Carbonell E , Cooper ST , Covill LE , DiTroia S , Donkervoort S , Engle EC , Gallacher L , Genetti CA , Gleeson JG , Guan B , Hall S , Hildebrandt F , Hufnagel RB , Jurgens JA , Khorgade A , Lemire G , Liau E , Ma J , Madden JA , Mangilog B , McNulty BM , Messaoud O , Negi S , O'Heir E , O'Leary MC , Osei-Owusu I , Õunap K , Pais L , Pajusalu S , Pham A , Pierce EA , Pierce-Hoffman E , Ravenscroft G , Roscioli T , Sankaran VG , Serrano J , Sherr EH , Shril S , Singer-Berk M , Snow H , Straub V , Tai D , Tan TY , Töpf A , Ullah E , VanNoy G , Violich I , Walker M , White SM , Wojcik MH , Mitchell E , Al'Khafaji AM , Dodge S , Garimella K , Lennon NJ , Gabriel SB , Miga KH , Paten B , Rehm H , O'Donnell-Luria A , Brand H , Talkowski ME

Published On :2026 Jun 24

Journal Article Preprint

Editorial Expression of Concern: Frequent inactivation of RUNX3 by promoter hypermethylation and protein mislocalization in oral squamous cell carcinomas.

Authors :Gao F , Huang C , Lin M , Wang Z , Shen J , Zhang H , Jiang L , Chen Q

Published On :2026 Jul 1

Expression of Concern

Recurrent patterns of TOP1-mediated neuronal genomic damage shared by major neurodegenerative disorders.

Authors :Zhou Z , Luquette LJ , Dong G , Kim J , Ku J , Kim K , Ramesh N , Bae M , Caplin A , Shao DD , Sahile B , Essuman K , Goodman E , Miller MB , Huang AY , Nathan WJ , Nussenzweig A , Park PJ , Lagier-Tourenne C , Lee EA , Walsh CA

Published On :2026 Jul 1

Journal Article

Correction: Mirikizumab as Induction and Maintenance Therapy in Chinese Patients with Ulcerative Colitis: A Subpopulation Analysis of the Randomized, Global Phase 3 LUCENT-1 and LUCENT-2 Trials.

Authors :Ran Z , Chen Y , Miao Y , Wang Y , Gao X , Zhong J , Ding X , Wang C , Zhang X , Ding Y , Hu N , Tang D , Yu J , Qian C , Shen J

Published On :2026 Jul

Published Erratum

Astrocytes contribute to olanzapine-mediated reversal of Kleefstra Syndrome-associated neurodevelopmental regression.

Authors :Vermeulen-Kalk K , Wang S , Kummeling J , Mossink B , Wijnant KN , González Jiménez CO , Frazier ZJ , Rozumny BJ , O'Donnell-Luria A , Hanson E , Frega M , Linda K , Negwer M , Lendemeijer B , Oudakker A , Pop-Purceleanu M , Janzing JG , van Dongen L , de Vrij FM , Kushner SA , van der Werf I , Schoenmaker C , Oomens W , Srivastava S , Egger JI , van Bokhoven H , Schubert D , Nadif Kasri N , Kleefstra T

Published On :2026 Jun 30

Journal Article

Elective genomic sequencing for adults in research, clinical and commercial contexts.

Authors :Linderman MD , Adelson SM , Berro TM , Anderson JL , Crawford SD , Cunningham TJ , Esplin ED , Ewing-Crawford AT , Nielsen DE , Pereira S , Schmidlen T , Andrighetti H , Bleyl SB , Church GM , Haverfield EV , Hegde M , Konstantinos LN , Kruszka P , Leonard D , May T , McGinniss M , Pandya V , Schadt EE , Tzovaras BG , Zettler B , McGuire AL , Green RC , PeopleSeq Study Team

Published On :2026 Jun 18

Journal Article Preprint

Within-host pathogen population diversity predicts treatment response in Tuberculosis.

Authors :Kulkarni SG , Marin MG , Mann BC , Rawoot N , Goodwin S , Cesare N , Warren RM , Jacobson KR , Farhat MR

Published On :2026 Jun 19

Journal Article Preprint

The burden and unique patterns of extraintestinal manifestations in Chinese inflammatory bowel disease: a nationwide multicenter investigation.

Authors :Zhao L , Fan Z , He J , Tian L , Shen J , Gao H , Chen Y , Zhao X , Yu YB , Fan Y , Shi H , Cao H , Tian L , Liang J

Published On :2026 Jun 26

Journal Article

Association of Triglyceride-Glucose Index with Negative Clinical Outcomes in Geriatric Patients with Chronic Heart Failure.

Authors :Tian L , Qiu X , Cheng Q , Shen J , Wang S

Published On :2026 Jun 20

Journal Article

DNA Cut-Ligation Cyclization Surpasses Jacobson-Stockmayer J-Factor Expectations by over Threefold.

Authors :Oliynyk RT , Church GM

Published On :2026 May 22

Journal Article

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Authors :Welland MJ , Ahlquist KD , De Fazio P , Austin-Tse C , Pais L , Wedd L , Bryen S , Rius R , Franklin M , Morrison C , Hall G , Gauthier L , Bloemendal A , Francis DI , Mallett AJ , Mallawaarachchi A , Lockhart PJ , Leventer R , Scheffer IE , Howell KB , Kassahn KS , Scott HS , McGaughran J , Christodoulou J , Thorburn DR , Thompson BA , Patel CV , Smith G , O'Donnell-Luria A , Sadedin S , Rehm HL , Lunke S , Wander J , Samocha KE , Simons C , MacArthur DG , Stark Z

Published On :2026 Jun 24

Journal Article

[Collaborative Evolution and Influencing Factors of Digital Economy and Urban Ecological Resilience].

Authors :Liu XL , Jia XC , Guo PB , Shen J , Shi QQ

Published On :2026 Jun 8

English Abstract Journal Article

Derivation of elephant induced pluripotent stem cells.

Authors :Appleton E , Korover N , Hong K , Ambriz-Peña X , Tanaka Y , Ashkenazy-Titelman A , Rasmussen-Ivey C , Rodríguez-Caycedo C , Bhide K , Bai H , Queiroz A , Nelson JW , Rathod G , Morgan M , Mastracci A , Nelson TM , Knox G , McNutt B , Malviya N , Zhang K , Kowalczyk A , Bow A , McLendon B , Slamecka J , Ryon K , Proszynski J , Houerbi N , Kleinman AS , Poon CL , Kiso W , James M , Park IH , Gray C , Pearson VR , Mason CE , Cantarel BL , Koehler KR , Shapiro B , Kehler J , Lamm B , Church G , Hysolli E

Published On :2026 Jul

Journal Article

An intelligent MRI-based all-in-one diagnostic strategy for axillary lymph node status in breast cancer.

Authors :Zhang X , Qiu Y , Su Y , Yao Q , Li H , Zheng S , Tang X , Su W , Yusufu R , Huang Y , Chen X , Gao C , Ding M , Yang S , Zeng Y , Li Y , Zhao J , Peng Y , Liu Z , Chen R , Yang Z , Xiong L , Mao N , Liu Z , Shen J

Published On :2026 Jun 22

Journal Article

Probing the limits of genetic recoding using multi-omics-guided evolution.

Authors :Nyerges A , Chiappino-Pepe A , Budnik B , Baas-Thomas M , Rhuby E , 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 :2026 Jun 22

Journal Article