Publications | International Center for Genetic Disease at Harvard Medical School

Droplet digital polymerase chain reaction-based quantitation of therapeutic lentiviral vector copies in transduced hematopoietic stem cells.

Authors :Phuphanitcharoenkun S , Bhukhai K , Phanthong P , Prasongtanakij S , Linn AK , Sutjarit N , Anurathapan U , Leboulch P , Payen E , Hongeng S , Borwornpinyo S

Published On :2024 Jun

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

Estimation of country-specific tuberculosis resistance antibiograms using pathogen genomics and machine learning.

Authors :Dixit A , Freschi L , Vargas R , Gröschel MI , Nakhoul M , Tahseen S , Alam SMM , Kamal SMM , Skrahina A , Basilio RP , Lim DR , Ismail N , Farhat MR

Published On :2024 Mar 28

Journal Article

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Authors :Marchant RG , Bryen SJ , Bahlo M , Cairns A , Chao KR , Corbett A , Davis MR , Ganesh VS , Ghaoui R , Jones KJ , Kornberg AJ , Lek M , Liang C , MacArthur DG , Oates EC , O'Donnell-Luria A , O'Grady GL , Osei-Owusu IA , Rafehi H , Reddel SW , Roxburgh RH , Ryan MM , Sandaradura SA , Scott LW , Valkanas E , Weisburd B , Young H , Evesson FJ , Waddell LB , Cooper ST

Published On :2024 May

Journal Article Research Support, N.I.H., Extramural

Comprehensive mutagenesis maps the effect of all single-codon mutations in the AAV2 rep gene on AAV production.

Authors :Jain NK , Ogden PJ , Church GM

Published On :2024 Mar 27

Journal Article

A review for the impacts of circadian disturbance on urological cancers.

Authors :Li T , Jiang Y , Bai Y , Jiang K , Du G , Chen P , Luo C , Li L , Qiao J , Shen J

Published On :2024 Apr

Journal Article Review

Poly-(lactic acid) composite films comprising carvacrol and cellulose nanocrystal-zinc oxide with synergistic antibacterial effects.

Authors :Zheng H , Chen L , Liu T , Liu M , Yang Y , Liu G , Zhao H , Chen P , Fu S , Zhang Y , Shen J

Published On :2024 May

Journal Article

Drug-resistant tuberculosis: a persistent global health concern.

Authors :Farhat M , Cox H , Ghanem M , Denkinger CM , Rodrigues C , Abd El Aziz MS , Enkh-Amgalan H , Vambe D , Ugarte-Gil C , Furin J , Pai M

Published On :2024 Oct

Journal Article Review

Reorganization of structural brain networks in Parkinson's disease with postural instability/gait difficulty.

Authors :Li Z , Liu J , Miao X , Ge S , Shen J , Jin S , Gu Z , Jia Y , Zhang K , Wang J , Wang M

Published On :2024 Mar 28

Journal Article

Assessing care dependence status and associated influencing factors among middle-aged hemiplegic stroke patients during the post-acute rehabilitation phase: A correlational study.

Authors :Yuan L , Shen J , Ye S , Zhou N

Published On :2024 Jun

Observational Study Journal Article Research Support, Non-U.S. Gov't

Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.

Authors :Martin E , Winter S , Garcin C , Tanita K , Hoshino A , Lenoir C , Fournier B , Migaud M , Boutboul D , Simonin M , Fernandes A , Bastard P , Le Voyer T , Roupie AL , Ben Ahmed Y , Leruez-Ville M , Burgard M , Rao G , Ma CS , Masson C , Soudais C , Picard C , Bustamante J , Tangye SG , Cheikh N , Seppänen M , Puel A , Daly M , Casanova JL , Neven B , Fischer A , Latour S

Published On :2024 Apr

Journal Article

SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease.

Authors :Strausz S , Abner E , Blacker G , Galloway S , Hansen P , Feng Q , Lee BT , Jones SE , Haapaniemi H , Raak S , Nahass GR , Sanders E , FinnGen , Estonian Genome Centre , Estonian Biobank Research Team , Soodla P , Võsa U , Esko T , Sinnott-Armstrong N , Weissman IL , Daly M , Aivelo T , Tal MC , Ollila HM

Published On :2024 Mar 19

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

Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.

Authors :Ganz J , Luquette LJ , Bizzotto S , Miller MB , Zhou Z , Bohrson CL , Jin H , Tran AV , Viswanadham VV , McDonough G , Brown K , Chahine Y , Chhouk B , Galor A , Park PJ , Walsh CA

Published On :2024 Apr 11

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank.

Authors :Ryu J , Rämö JT , Jurgens SJ , Niiranen T , Sanna-Cherchi S , Bauer KA , Haj A , Choi SH , Palotie A , Daly M , Ellinor PT , Bendapudi PK

Published On :2024 Jun 6

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.

Authors :Ganesh VS , Riquin K , Chatron N , Lamar KM , Aziz MC , Monin P , O'Leary M , Goodrich JK , Garimella KV , England E , Yoon E , Weisburd B , Aguet F , Bacino CA , Murdock DR , Dai H , Rosenfeld JA , Emrick LT , Ketkar S , Undiagnosed Diseases Network , Sarusi Y , Sanlaville D , Kayani S , Broadbent B , Isidor B , Pengam A , Cogné B , MacArthur DG , Ulitsky I , Carvill GL , O'Donnell-Luria A

Published On :2024 Feb 7

Preprint Journal Article

Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.

Authors :Nazeen S , Wang X , Zielinski D , Lam I , Hallacli E , Xu P , Ethier E , Strom R , Zanella CA , Nithianandam V , Ritter D , Henderson A , Saurat N , Afroz J , Nutter-Upham A , Benyamini H , Copty J , Ravishankar S , Morrow A , Mitchel J , Neavin D , Gupta R , Farbehi N , Grundman J , Myers RH , Scherzer CR , Trojanowski JQ , Van Deerlin VM , Cooper AA , Lee EB , Erlich Y , Lindquist S , Peng J , Geschwind DH , Powell J , Studer L , Feany MB , Sunyaev SR , Khurana V

Published On :2024 Mar 7

Preprint Journal Article