Publications | International Center for Genetic Disease at Harvard Medical School

The effects of the positioning of a bolt in the femoral neck system on the short-term outcomes of middle-aged and young adults with displaced femoral neck fractures.

Authors :Jin Y , Zhou X , Li Z , Liu Y , Xu R , Shen J , Zhang X , Yu X

Published On :2025 Jan 29

Journal Article

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.

Authors :Mondragon-Estrada E , Newburger JW , DePalma SR , Brueckner M , Cleveland J , Chung WK , Gelb BD , Goldmuntz E , Hagler DJ Jr , Huang H , McQuillen P , Miller TA , Panigrahy A , Porter GA Jr , Roberts AE , Rollins CK , Russell MW , Tristani-Firouzi M , Grant PE , Im K , Morton SU

Published On :2025 Feb 21

Journal Article

Frequently arising ESX-1-associated phase variants influence Mycobacterium tuberculosis fitness in the presence of host and antibiotic pressures.

Authors :Luna MJ , Oluoch PO , Miao J , Culviner P , Papavinasasundaram K , Jaecklein E , Shell SS , Ioerger TR , Fortune SM , Farhat MR , Sassetti CM

Published On :2025 Mar 12

Journal Article

Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.

Authors :Danzi MC , Xu IRL , Fazal S , Dolzhenko E , Pellerin D , Weisburd B , Reuter C , Sampson J , Folland C , Wheeler M , O'Donnell-Luria A , Wuchty S , Ravenscroft G , Eberle MA , All of Us Research Program Long Read Working Group , Zuchner S

Published On :2025 Jan 20

Journal Article Preprint

Peganum harmala Polysaccharide Mitigates LPS-Induced Inflammatory Response in Macrophages by Activating Autophagy Pathway.

Authors :Rejiepu M , Shen J , Liang J , Maitikabili A , Yang J , Zhang L , Mi N

Published On :2025 Jan

Journal Article

Insurance-Based Disparities in Cardiac Allograft Vasculopathy After Heart Transplantation Are Mediated by Care at High-Volume Centers.

Authors :Sakowitz S , Bakhtiyar SS , Mallick S , Pereira S , Nelson JS , Parikh R , Higgins RSD , Shemin RJ , Benharash P

Published On :2025 Sep

Journal Article Multicenter Study

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

Authors :Negi S , Stenton SL , Berger SI , Canigiula P , McNulty B , Violich I , Gardner J , Hillaker T , O'Rourke SM , O'Leary MC , Carbonell E , Austin-Tse C , Lemire G , Serrano J , Mangilog B , VanNoy G , Kolmogorov M , Vilain E , O'Donnell-Luria A , Délot E , Miga KH , Monlong J , Paten B

Published On :2025 Feb 6

Journal Article

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes.

Authors :Hakim A , Connally NJ , Schnitzler GR , Cho MH , Jiang ZG , Sunyaev SR , Gupta RM

Published On :2025 Jan 15

Journal Article

Butyric Acid Modulates Gut Microbiota to Alleviate Inflammation and Secondary Bone Loss in Ankylosing Spondylitis.

Authors :You K , Yang L , Su Z , Shen J , Fan X , Guo Y , Yuan Z , Lu H

Published On :2024 Dec 24

Journal Article

Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.

Authors :Urbut SM , Cho SMJ , Paruchuri K , Truong B , Haidermota S , Peloso GM , Hornsby WE , Philippakis A , Fahed AC , Natarajan P

Published On :2025 Feb

Journal Article

Rapid human oogonia-like cell specification via transcription factor-directed differentiation.

Authors :Pierson Smela M , Kramme CC , Fortuna PRJ , Wolf B , Goel S , Adams J , Ma C , Velychko S , Widocki U , Srikar Kavirayuni V , Chen T , Vincoff S , Dong E , Kohman RE , Kobayashi M , Shioda T , Church GM , Chatterjee P

Published On :2025 Feb

Journal Article