Publications | International Center for Genetic Disease at Harvard Medical School

Structure and Magnetocaloric Properties of Two Cadmium Gadolinium Borates.

Authors :Wan T , Wang Y , Chen Z , Li Z , Zhao Y , Shen J , Tu H , Zhang G

Published On :2026 Mar 23

Journal Article

Dental, Oral and Craniofacial Tissue Regeneration Consortium (DOCTRC): An infrastructure for accelerating regenerative therapies from discovery to clinical impact.

Authors :Nguyen VX , Yoshida M , Samuels BD , Giannobile W , Healy KE , Jamieson M , Lane N , Longaker MT , Mooney DJ , Sfeir CS , Sinha UK , Wagner WR , Lotz JC , Kohn DH , Chai Y

Published On :2026

Case Reports Journal Article

Separation of liver focal nodular hyperplasia (FNH) and liver malignant tumors by a combination of T2-weighted imaging signal and three diffusion magnetic resonance metrics of diffusion-derived vessel density, slow diffusion coefficient, and apparent diffusion coefficient.

Authors :Li CY , Zheng CJ , Duan XH , Shen J , Wáng YXJ

Published On :2026 Feb 28

Journal Article

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Authors :Mendez R , Arriaga TM , Ma J , Bonner DE , Emami S , Levy RJ , Alsagheir A , Alhaddad B , Bakur K , Ungar RA , Matalon DR , Miller AM , Nguyen J , Smith KS , Scott SA , Liao L , Ng Z , Marwaha S , Ward A , Undiagnosed Diseases Network , Genomics Research to Elucidate the Genetics of Rare Diseases Consortium , Novacic D , Alkuraya FS , Bernstein JA , Ganesh VS , O'Donnell-Luria A , Montgomery SB , Wheeler MT

Published On :2026 Apr 9

Journal Article

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Authors :Schwahn BC , Berry GT , Vernon HJ , Li H , Merritt Ii JL , Schiff M , Chabrol B , De Las Heras J , Vockley J , Lee C , Koeberl DD , Burton BK , Grunewald S , Diaz GA , Ficicioglu C , Morgan T , Luo J , Attarwala H , Liang M , Perera S , Sikirica V

Published On :2026 Mar 9

Journal Article

Neuregulin1-ErbB4 Signaling Involved in Acupuncture Promoting Myelin Regeneration in Spinal Cord Injury Rats.

Authors :Shen J , Zhao Y , Jiang C , Huang Y , Wang L , Wu H

Published On :2026 Feb 20

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

Phosphoproteomic Insights into the Metabolic Reprogramming of Cell Growth and Lipid Accumulation in Mucor circinelloides.

Authors :Zan X , Shen J , Wang Y , Zhao L , Sun L , Sun W , Song Y , Cui F

Published On :2026 Mar 18

Journal Article

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial.

Authors :Ladha FA , VanderPluym C , Mondragon-Estrada E , Avillach P , Brueckner M , Chung WK , Cnota JF , Gelb BD , Lewis M , Liu C , Roberts AE , Seidman CE , Tristani-Firouzi M , Wagner M , Morton SU , Newburger JW , Pediatric Cardiac Genomics Consortium Investigators

Published On :2026 Mar 17

Journal Article Observational Study Multicenter Study Research Support, N.I.H., Extramural

Charge/stiffness-tunable nano-microsphere overcomes intestinal mucosal barrier for rheumatoid arthritis treatment.

Authors :Zhu Y , Wang L , Zhang Y , Li G , Shi Z , Wang D , Wang Q , Yang X , Wang L , Shen J , Yang X

Published On :2026 Apr

Journal Article

Enhancing the pathological diagnosis of oral cancers using broadband ultraviolet photoacoustic microscopy.

Authors :Zhang L , Yang F , Shang J , Yang Y , Zhu S , Wu X , Yang Z , Yan Y , Shen J , Yuan X

Published On :2025 May 1

Journal Article

Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach.

Authors :Ameijeiras AH , Vucko E , Harding CO , Lah M , Muntau AC , Rovelli V , Thomas JA , Rose S , Lindstrom K , Sacharow S

Published On :2026 Apr

Journal Article

Session Introduction: Precision Medicine: Integrating Large-Scale Data and Intermediate Phenotypes for Understanding Health and Treating Disease.

Authors :Brenner SE , Ioannidis NM , Obafemi-Ajayi T , O'Donnell-Luria A

Published On :2026

Introductory Journal Article Conference Proceedings

Reconstructing multi-scale tissue spatial architecture from single-cell RNA-seq with REMAP.

Authors :Jiang S , Coleman K , Chen Z , Jin K , Liu Y , Lee DH , Hwang TH , Xiao R , Jin J , Walsh CA , Qian X , Wang L , Li M

Published On :2026 Feb 22

Journal Article Preprint

Ancestry-specific performance of variant effect predictors in clinical variant classification.

Authors :Hoffing R , Zeiberg D , Stenton SL , Mort M , Cooper DN , Hahn MW , O'Donnell-Luria A , Ward LD , Radivojac P

Published On :2026 Feb 17

Journal Article Preprint

Benchmarking within-sample minority variant detection with short-read sequencing in M. tuberculosis.

Authors :Mulaudzi S , Kulkarni S , Marin MG , Farhat MR

Published On :2026 Feb 16

Journal Article Preprint