Publications | International Center for Genetic Disease at Harvard Medical School

NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.

Authors :Nazeen S , Wang X , Morrow A , Strom R , Ethier E , Ritter D , Henderson A , Afroz J , Stitziel NO , Gupta RM , Luk K , Studer L , Khurana V , Sunyaev SR

Published On :2025 Jan 10

Journal Article

Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.

Authors :McGinty RJ , Balick DJ , Mirkin SM , Sunyaev SR

Published On :2025 Jan 10

Journal Article

Lessons learned from 5 years of pegvaliase in US clinics: A case series.

Authors :Cooney E , Ammous Z , Bender T , Clague GE , Clifford M , Crutcher A , Davis-Keppen L , Havens K , Lah M , Sacharow S , Sanchez-Valle A , Vucko E , Wardley B , Wessenberg L , Andersson HC

Published On :2025 Mar

Journal Article

Proteolysis-targeting influenza vaccine strains induce broad-spectrum immunity and in vivo protection.

Authors :Shen J , Li J , Shen Q , Hou J , Zhang C , Bai H , Ai X , Su Y , Wang Z , Zhang Y , Xu B , Hao J , Wang P , Zhang Q , Ye AY , Li Z , Feng T , Li L , Qi F , Wang Q , Sun Y , Liu C , Xi X , Yan L , Hong H , Chen Y , Xie X , Xie J , Liu X , Du R , Plebani R , Zhang L , Zhou D , Church G , Si L

Published On :2025 Feb

Journal Article

PROTAR Vaccine 2.0 generates influenza vaccines by degrading multiple viral proteins.

Authors :Zhang C , Hou J , Li Z , Shen Q , Bai H , Chen L , Shen J , Wang P , Su Y , Li J , Zhang Q , Liu C , Xi X , Qi F , Chen Y , Xie X , Ye AY , Liu X , Plebani R , Church G , Si L

Published On :2025 Jan 15

Journal Article

Clinical efficacy of pyrotinib combined with chemotherapy for neoadjuvant treatment in HER2-positive breast cancer: a single-center study.

Authors :Wei B , Yan H , Li F , Shen J

Published On :2025 Apr 1

Journal Article

Novel Immune Response Evasion Strategy to Redose Adeno-associated Viral Vectors and Prolong Survival in Surfactant Protein-B Deficient Mice.

Authors :Kang MH , Thomas SP , Westley C , Blouin T , Xu L , Chan YK , Lisk E , Allen S , Vadivel A , Nangle K , Ramamurthy J , Pei Y , Lewis L , Chiang JJ , Romeo MJ , Vaena S , O'Quinn EC , Schrecker HD , Langdon CG , Nietert PJ , Church GM , Whitsett JA , Wootton SK , Thébaud B

Published On :2025 Jan 13

Journal Article

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Authors :Arriaga MT , Mendez R , Ungar RA , Bonner DE , Matalon DR , Lemire G , Goddard PC , Padhi EM , Miller AM , Nguyen JV , Ma J , Smith KS , Scott SA , Liao L , Ng Z , Marwaha S , Bademci G , Bivona SA , Tekin M , Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium , Bernstein JA , Montgomery SB , O'Donnell-Luria A , Wheeler MT , Ganesh VS

Published On :2025 Jan 3

Journal Article

Protocol for differentiating hematopoietic progenitor cells from human pluripotent stem cells in chemically defined monolayer culture.

Authors :Mo S , Qu K , Shen J , Yen K

Published On :2025 Mar 21

Journal Article

Unsupervised deep learning of electrocardiograms enables scalable human disease profiling.

Authors :Friedman SF , Khurshid S , Venn RA , Wang X , Diamant N , Di Achille P , Weng LC , Choi SH , Reeder C , Pirruccello JP , Singh P , Lau ES , Philippakis A , Anderson CD , Maddah M , Batra P , Ellinor PT , Ho JE , Lubitz SA

Published On :2025 Jan 12

Journal Article

Analysis of the miRNA Transcriptome in Aconitum vilmorinianum and Its Regulation of Diterpenoid Alkaloid Biosynthesis.

Authors :Zhao X , Li Y , Shen J , Guo C , Li J , Chen M , Xu H , Li K

Published On :2025 Jan 3

Journal Article

In vivo GABA detection by single-pulse editing with one shot.

Authors :An L , Hong S , Turon T , Pavletic A , Johnson CS , Derbyshire JA , Shen J

Published On :2025 Jul

Journal Article

Abaloparatide Enhances Bone Regeneration in Extraction Socket Dental Implant Defects: An Experimental In Vivo Study.

Authors :Latimer J , Yilmaz B , Feher B , Shiba T , Fretwurst T , Mitlak B , Lanske B , Kostenuik P , Giannobile WV

Published On :2025 Apr

Journal Article

GREGoR: Accelerating Genomics for Rare Diseases.

Authors :Dawood M , Heavner B , Wheeler MM , Ungar RA , LoTempio J , Wiel L , Berger S , Bernstein JA , Chong JX , Délot EC , Eichler EE , Gibbs RA , Lupski JR , Shojaie A , Talkowski ME , Wagner AH , Wei CL , Wellington C , Wheeler MT , GREGoR Partner Members , Carvalho CMB , Gifford CA , May S , Miller DE , Rehm HL , Sedlazeck FJ , Vilain E , O'Donnell-Luria A , Posey JE , Chadwick LH , Bamshad MJ , Montgomery SB , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium

Published On :2024 Dec 18

Journal Article

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Authors :Stenton SL , Laricchia K , Lake NJ , Chaluvadi S , Ganesh V , DiTroia S , Osei-Owusu I , Pais L , O'Heir E , Austin-Tse C , O'Leary M , Abu Shanap M , Barrows C , Berger S , Bönnemann CG , Bujakowska KM , Campagna DR , Compton AG , Donkervoort S , Fleming MD , Gallacher L , Gleeson JG , Haliloglu G , Pierce EA , Place EM , Sankaran VG , Shimamura A , Stark Z , Tan TY , Thorburn DR , White SM , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium , Vilain E , Lek M , Rehm HL , O'Donnell-Luria A

Published On :2024 Dec 26

Journal Article