Publications | International Center for Genetic Disease at Harvard Medical School

Integrated AAV optimization enables efficient gene delivery to kidney in murine and human tissue.

Authors :Garcia FG , Moreno MR , Chetty S , Johnson N , An A , Sostena J , Thompson L , Wang J , Charu V , Lee J , Meyer N , Stoller M , Yang H , Boutagy N , DiRito J , Tietjen G , Toscano CA , Garcia-Gonzalez M , Church G , Kay M , Thakor A , Bhalla V , Maxim D

Published On :2025 Oct 24

Journal Article Preprint

Industrialization drives convergent microbial and physiological shifts in the human metaorganism.

Authors :Poyet M , Rühlemann M , Schaan AP , Ma Y , Moitinho-Silva L , Wacker EM , Jebens H , Patel L , Nguyen LTT , Zimmer A , Plichta D , McDonald D , Stevens C , Agyei A , Afihene MY , Asibey SO , Awuku YA , Badiane AS , Ching LS , Corzett C , Deme A , Dominguez-Rodrigo M , Duah A , Fezeu A , Froment A , Gibbons S , Girard C , Hooker J , Ibrahim F , Iqaluk D , Juimo V , Kettunen P , Lafosse S , Lango-Yaya E , Lehtimäki J , Lim YAL , Mabulla A , Mahachai V , Mohamed RS , Moniz K , Mwikarago IE , Nartey YA , Ndiaye D , Noel M , Onyekwere C , Pin TM , Plymoth A , Roberts L , Ruokolainen L , Rusine J , Segurel L , Shapiro BJ , Sigwazi S , Sistiaga A , Valles K , Vatanen T , Vilaichone RK , Rosenstiel P , Baines J , Franke A , Ellinghaus D , Knight R , Daly M , Xavier RJ , Alm EJ , Groussin M

Published On :2025 Oct 20

Journal Article Preprint

A comprehensive view of somatic mosaicism by single-cell DNA analysis.

Authors :Luquette LJ , Coorens THH , Natu A , Suvakov M , Caplin A , Jun MS , Mo A , Pelt J , Anderson L , Berselli M , Bhamidipati S , Blanchard T , Brew J , Chun HE , Chun H , Dehankar MK , Feng WC , Furatero R , Grochowski CM , Ho E , Jang Y , Kottapalli K , Leonard MK , Lim NS , Lindsay T , Nicholson S , Raimondi I , Runnels A , Scharlee C , Shin J , Veit AD , VonDran M , Wang Y , Yuan DJ , Zhao Y , SMaHT Single Cell Focus Group , Bell TJ , Ardlie K , Doddapaneni H , Fulton R , Germer S , Landau D , Oh JW , Park PJ , Vaccarino FM , Walsh C , Abyzov A

Published On :2025 Nov 3

Journal Article Preprint

Understanding gerontological nursing competence among nursing students in higher vocational colleges: a cross-sectional study.

Authors :Chen Q , Wang K , Gao Y , Shen J , Jia Q , Wang X

Published On :2025

Journal Article

Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis.

Authors :Berger SI , O'Donnell-Luria A

Published On :2026 Jan

Journal Article

Segregating DNA lesions point to high selective advantage of tumor initiating cells.

Authors :Seplyarskiy V , Shady M , Andrianova MA , Chapman MS , Van Allen EM , Sunyaev SR

Published On :2025 Oct 4

Journal Article Preprint

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex.

Authors :Viswanadham VV , Kim SN , Caglayan E , Doan RN , Dou Y , Bizzotto S , Khoshkhoo S , Huang AY , Yeh R , Chhouk BH , Truong A , Chappell KM , Beaudin M , Barton A , Akula SK , Zhao Y , Rento L , Lodato M , Szeto RA , Ganz J , Li P , Tsai JW , Hill RS , Park PJ , Walsh CA

Published On :2025 Nov 25

Journal Article

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Authors :Reimers R , Bailey M , Brown C , Chan K , Defay T , Finkel T , Kahn S , Protopsaltis L , Stoddard L , Talati AJ , Wigby K , Akil ASA , Wright M , Kingsmore SF , BeginNGS Consortium

Published On :2025 Nov 13

Adaptive Clinical Trial Journal Article

Antinuclear antibodies seroconversion and endoscopic response to infliximab in biologic-naive Crohn's disease: a Chinese single-center, retrospective study.

Authors :Tong J , Xu X , Cao Y , Zhu M , Lu J , Qiao Y , Dai Z , Wang T , Sun Y , Cao Z , Jun S

Published On :2025 Nov 14

Journal Article

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology.

Authors :Demontis D , Duan J , Hsu YH , Pintacuda G , Grove J , Nielsen TT , Thirstrup J , Martorana M , Botts T , Satterstrom FK , Bybjerg-Grauholm J , Tsai JHY , Glerup S , Hoogman M , Buitelaar J , Klein M , Ziegler GC , Jacob C , Grimm O , Bayas M , Kobayashi NF , Kittel-Schneider S , Lesch KP , Franke B , Reif A , Agerbo E , Werge T , Nordentoft M , Mors O , Mortensen PB , Lage K , Daly MJ , Neale BM , Børglum AD

Published On :2026 Jan

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 , Lupski JR , Shojaie A , Talkowski ME , Wagner AH , Wei CL , Wellington C , Wheeler MT , GREGoR Partner Members , Carvalho CMB , Gibbs RA , Gifford CA , May S , Miller DE , Rehm HL , Samocha KE , 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 :2025 Nov

Journal Article