Publications | International Center for Genetic Disease at Harvard Medical School

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

New Insights into the Role of Inflammatory Pathways and Immune Cell Infiltration in Sleep Deprivation-Induced Atrial Fibrillation: An Integrated Bioinformatics and Experimental Study.

Authors :Liang J , Tang B , Shen J , Rejiepu M , Guo Y , Wang X , Shao S , Guo F , Wang Q , Zhang L

Published On :2025

Journal Article

Tissue Perfusion and Biomarkers Assessment Following Root Coverage Procedures.

Authors :Tavelli L , Nguyen T , Rodriguez MV , Mancini L , Giannobile WV , Barootchi S

Published On :2025 Jan 22

Journal Article

Melatonin lessens the susceptibility to atrial fibrillation in sleep deprivation by ameliorating Ca(2+) mishandling in response to mitochondrial oxidative stress.

Authors :Shen J , Liang J , Yuan P , Sun H , Rejiepu M , Guo F , Zhou X , Liu H , Zhang L , Tang B

Published On :2025 Feb 20

Journal Article

All-Optical Modulation Photodetectors Based on the CdS/Graphene/Ge Sandwich Structures for Integrated Sensing-Computing.

Authors :Yang Q , Hu J , Li H , Du Q , Feng S , Yang D , Zhang Y , Shen J

Published On :2025 Mar

Journal Article

Species-specific Antimony Isotope Analysis by High Performance Liquid Chromatography Coupled with Multicollector ICPMS Using Hydride Generation as an Interface.

Authors :Chen L , Du Y , Li S , Liu X , Shen J , Zhu Z

Published On :2025 Feb 4

Journal Article

Enhanced detection of glutamate via transverse relaxation encoding with narrowband decoupling in the human brain.

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

Published On :2025 Jun

Journal Article

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Authors :Avila MN , Jung S , Satterstrom FK , Fu JM , Levy T , Sloofman LG , Klei L , Pichardo T , Stevens CR , Cusick CM , Ames JL , Campos GS , Cerros H , Chaskel R , Costa CIS , Cuccaro ML , Del Pilar Lopez A , Fernandez M , Ferro E , Galeano L , Girardi ACDES , Griswold AJ , Hernandez LC , Lourenço N , Ludena Y , Nuñez DL , Oyama R , Peña KP , Pessah I , Schmidt R , Sweeney HM , Tolentino L , Wang JYT , Albores-Gallo L , Croen LA , Cruz-Fuentes CS , Hertz-Picciotto I , Kolevzon A , Lattig MC , Mayo L , Passos-Bueno MR , Pericak-Vance MA , Siper PM , Tassone F , Trelles MP , Autism Sequencing Consortium , Talkowski ME , Daly MJ , Mahjani B , De Rubeis S , Cook EH , Roeder K , Betancur C , Devlin B , Buxbaum JD

Published On :2025 Jan 6

Journal Article

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