Publications | International Center for Genetic Disease at Harvard Medical School

Hotspots of human mutation point to clonal expansions in spermatogonia.

Authors :Seplyarskiy V , Moldovan MA , Koch E , Kar P , Neville MDC , Rahbari R , Sunyaev S

Published On :2025 Oct 8

Journal Article

Engineering gene drive docking sites in a haplolethal locus in Anopheles gambiae.

Authors :Smidler AL , Marrogi EA , Scott S , Mameli E , Abernathy D , Akbari OS , Church GM , Catteruccia F , Esvelt K

Published On :2025 Oct 8

Journal Article

Tuberculosis Disease Prevalence Among People Who Smoke Illicit Drugs: A Respondent- Driven Sampling Study in the Western Cape, South Africa.

Authors :Malatesta S , Carney T , Niemand Wolhuter N , Overbeck V , Theron D , Weber SE , Meade CS , Thomson S , Bouton TC , Farhat M , Myers B , Wood R , Ratangee F , Horsburgh CR , White LF , Warren RM , Jacobson KR

Published On :2025 Oct 8

Journal Article

Artificial intelligence model for automatic 3-dimensional reconstruction of ossicular chain and bony labyrinth from high-resolution CT.

Authors :Xie M , Wang H , Yang Z , Gao M , Shi G , Liao X , Luo Z , Li X , Shen J

Published On :2025 Jan

Journal Article

Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians.

Authors :Raj APMS , Selvakumar G , Clement J , Church GM , Sivasubramaniam S

Published On :2025 Oct 7

Journal Article

Improved allele frequencies in gnomAD through local ancestry inference.

Authors :Kore P , Wilson MW , Tiao G , Chao K , Darnowsky PW , Watts NA , Mauer JH , Baxter SM , Genome Aggregation Database Consortium , Rehm HL , Daly MJ , Karczewski KJ , Atkinson EG

Published On :2025 Oct 6

Journal Article

Enhancing randomized clinical trials with digital twins.

Authors :Akbarialiabad H , Pasdar A , Murrell DF , Mostafavi M , Shakil F , Safaee E , Leachman SA , Haghighi A , Tarbox M , Bunick CG , Grada A

Published On :2025 Oct 3

Journal Article Review

Etrasimod as induction and maintenance treatment for patients with moderately to severely active ulcerative colitis in East Asia (ENLIGHT UC): a randomised, double-blind, placebo-controlled, multicentre, phase 3 study.

Authors :Wu K , Zheng C , Cao Q , Ding Y , Gao X , Zhong J , Chiu CT , Zhang H , Wang X , Wang B , Liang J , Liu X , Zhou Y , Xu B , Kim TO , Shen X , Chen D , Chen W , Liu Y , Shen J , Liu F , Ding X , Zhan Q , Chou JW , Zeng S , Lin Y , Ying L , Chen X , ENLIGHT UC Study Group

Published On :2025 Sep 30

Journal Article

Combinatorial protein barcodes enable self-correcting neuron tracing with nanoscale molecular context.

Authors :Park SY , Sheridan A , An B , Jarvis E , Lyudchik J , Patton W , Axup JY , Chan SW , Damstra HGJ , Leible D , Leung KS , Magno CA , Meeran A , Michalska JM , Rieger F , Wang C , Wu M , Church GM , Funke J , Huffman T , Leeper KGC , Truckenbrodt S , Winnubst J , Kornfeld JMR , Boyden ES , Rodriques SG , Payne AC

Published On :2025 Sep 28

Journal Article

The structural context of mutations in proteins predicts their effect on antibiotic resistance.

Authors :Green AG , Tasmin M , Vargas R , Farhat MR

Published On :2025 Sep 25

Journal Article

Characteristics and outcomes in atorvastatin therapy for chronic subdural hematoma: a national, observational real-world study in China, 2019-2024.

Authors :Liu T , Zhao Z , Wang J , Chen X , Huang J , Jiang W , Yu Y , Zhu X , Wang K , Lin K , Qin H , Peng B , Zhang G , Liu Z , Chen W , Shen J , Chen B , Li S , Liu M , Su W , Ding W , Hang C , Fang W , Yang F , Zhu R , Poon WS , Zhang J , Jiang R , Anderson CS

Published On :2025 Oct

Journal Article

CRESTA: a comprehensive transcriptome atlas for cellular response to external stressors.

Authors :Wang H , Mu W , Bao X , Zhang L , Xie Y , Li H , Wang K , Cao Y , Chen J , Zhan J , Li L , Shen J , Ren J , Zuo Z

Published On :2025 Sep 30

Journal Article

Correction: Evaluating the Predictive Value of Oxylipins for Cognitive Measures and White Matter Hyperintensities in Alzheimer's Disease Continuum Compared to Conventional Beta‑amyloid and Tau Protein Biomarkers.

Authors :Haghighi AS , Mayeli M , Ramezannezhad E , Pouroushaninia N , Parizi RB , Nourollahi-Foumeshi M , Idelkhani N , Dadjou Z , Saeedipour N , Safaee N , Partoandaz H , Shafie M , Sadeghi M , Falahati M , Alzheimer’s Disease Neuroimaging Initiative

Published On :2025 Sep 30

Published Erratum

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Authors :Fragoso DC , Al-Ajmi E , Cardenas AM , Quijada-Fraile P , Biswas A , Sudhakar S , D'Arco F , Mankad K , Al-Thihli K , Bodamer O , O'Donnell-Luria A , Yang E , Rodan L , Al-Murshedi F , Alves CAPF

Published On :2025 Sep 29

Journal Article

[Retracted] Interleukin-22 modulates cisplatin sensitivity of osteosarcoma cells by regulating the STAT3 signaling pathway.

Authors :Li Z , Xu R , Zhang X , Shen J , Chen G , Zou T , Yu X

Published On :2025 Nov

Journal Article