Publications | International Center for Genetic Disease at Harvard Medical School

For Tuberculosis, Not "To Screen or Not to Screen?" but "Who?" and "How?".

Authors :Farhat MR , Jacobson KR

Published On :2024 Jun 14

Editorial Research Support, N.I.H., Extramural Comment

KMT2E-Related Neurodevelopmental Disorder.

Authors :Adam MP , Bick S , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Pais L , Rodan L , O'Donnell-Luria A

Published On :1993

Review

Laser therapy decreases oral leukoplakia recurrence and boosts patient comfort: a network meta-analysis and systematic review.

Authors :Luo R , Wang Y , Li R , Ma Y , Chen H , Zhang J , Shen J

Published On :2024 Apr 17

Journal Article Systematic Review Network Meta-Analysis

SadNet: a novel multimodal fusion network for protein-ligand binding affinity prediction.

Authors :Hong Q , Zhou G , Qin Y , Shen J , Li H

Published On :2024 Apr 24

Journal Article

White matter hyperintensities mediate the association between frailty and cognitive impairment in moyamoya disease.

Authors :Du J , Qu C , Xu Z , Liu Z , Lv M , Wang D , Wei W , Duan Y , Shen J

Published On :2024 May

Journal Article

Experimental observation of current-driven antiskyrmion sliding in stripe domains.

Authors :He Z , Li Z , Chen Z , Wang Z , Shen J , Wang S , Song C , Zhao T , Cai J , Lin SZ , Zhang Y , Shen B

Published On :2024 Aug

Journal Article

Transcriptomic responses to antibiotic exposure in Mycobacterium tuberculosis.

Authors :Poonawala H , Zhang Y , Kuchibhotla S , Green AG , Cirillo DM , Di Marco F , Spitlaeri A , Miotto P , Farhat MR

Published On :2024 May 2

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

Analysis of the limited M. tuberculosis accessory genome reveals potential pitfalls of pan-genome analysis approaches.

Authors :Marin MG , Wippel C , Quinones-Olvera N , Behruznia M , Jeffrey BM , Harris M , Mann BC , Rosenthal A , Jacobson KR , Warren RM , Li H , Meehan CJ , Farhat MR

Published On :2024 May 4

Journal Article Preprint

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Authors :Jurgens JA , Barry BJ , Chan WM , MacKinnon S , Whitman MC , Matos Ruiz PM , Pratt BM , England EM , Pais L , Lemire G , Groopman E , Glaze C , Russell KA , Singer-Berk M , Di Gioia SA , Lee AS , Andrews C , Shaaban S , Wirth MM , Bekele S , Toffoloni M , Bradford VR , Foster EE , Berube L , Rivera-Quiles C , Mensching FM , Sanchis-Juan A , Fu JM , Wong I , Zhao X , Wilson MW , Weisburd B , Lek M , Ocular CCDD Phenotyping Consortium , Brand H , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Robson CD , Hunter DG , Engle EC

Published On :2024 Mar 26

Preprint Journal Article

Bibliometric analysis of research trends and hotspots on robot-assisted thyroid surgery.

Authors :Shi XT , Shen J , Sun YY

Published On :2024 Apr 5

Journal Article

Host evolution shapes gut microbiome composition in Astyanax mexicanus.

Authors :Riddle MR , Nguyen NK , Nave M , Peuß R , Maldonado E , Rohner N , Tabin CJ

Published On :2024 Apr

Journal Article

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Authors :van der Laan L , Lauffer P , Rooney K , Silva A , Haghshenas S , Relator R , Levy MA , Trajkova S , Huisman SA , Bijlsma EK , Kleefstra T , van Bon BW , Baysal Ö , Zweier C , Palomares-Bralo M , Fischer J , Szakszon K , Faivre L , Piton A , Mesman S , Hochstenbach R , Elting MW , van Hagen JM , Plomp AS , Mannens MMAM , Alders M , van Haelst MM , Ferrero GB , Brusco A , Henneman P , Sweetser DA , Sadikovic B , Vitobello A , Menke LA

Published On :2024 Jul 18

Journal Article

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Authors :Lemire G , Sanchis-Juan A , Russell K , Baxter S , Chao KR , Singer-Berk M , Groopman E , Wong I , England E , Goodrich J , Pais L , Austin-Tse C , DiTroia S , O'Heir E , Ganesh VS , Wojcik MH , Evangelista E , Snow H , Osei-Owusu I , Fu J , Singh M , Mostovoy Y , Huang S , Garimella K , Kirkham SL , Neil JE , Shao DD , Walsh CA , Argilli E , Le C , Sherr EH , Gleeson JG , Shril S , Schneider R , Hildebrandt F , Sankaran VG , Madden JA , Genetti CA , Beggs AH , Agrawal PB , Bujakowska KM , Place E , Pierce EA , Donkervoort S , Bönnemann CG , Gallacher L , Stark Z , Tan TY , White SM , Töpf A , Straub V , Fleming MD , Pollak MR , Õunap K , Pajusalu S , Donald KA , Bruwer Z , Ravenscroft G , Laing NG , MacArthur DG , Rehm HL , Talkowski ME , Brand H , O'Donnell-Luria A

Published On :2024 May 2

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

Testing multiplexed anti-ASFV CRISPR-Cas9 in reducing African swine fever virus.

Authors :Zheng Z , Xu L , Gao Y , Dou H , Zhou Y , Feng X , He X , Tian Z , Song L , Mo G , Hu J , Zhao H , Wei H , Church GM , Yang L

Published On :2024 Jul 2

Journal Article

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Authors :Houdayer C , Phillips AM , Chabbert M , Bourreau J , Maroofian R , Houlden H , Richards K , Saadi NW , Dad'ová E , Van Bogaert P , Rupin M , Keren B , Charles P , Smol T , Riquet A , Pais L , O'Donnell-Luria A , VanNoy GE , Bayat A , Møller RS , Olofsson K , Abou Jamra R , Syrbe S , Dasouki M , Seaver LH , Sullivan JA , Shashi V , Alkuraya FS , Poss AF , Spence JE , Schnur RE , Forster IC , Mckenzie CE , Simons C , Wang M , Snell P , Kothur K , Buckley M , Roscioli T , Elserafy N , Dauriat B , Procaccio V , Henrion D , Lenaers G , Colin E , Verbeek NE , Van Gassen KL , Legendre C , Bonneau D , Reid CA , Howell KB , Ziegler A , Legros C

Published On :2024 Mar 22

Preprint Journal Article