Publications | International Center for Genetic Disease at Harvard Medical School

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

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

Journal Article

The role of goblet cells in Crohn' s disease.

Authors :Wang Z , Shen J

Published On :2024 Apr 1

Journal Article Review

Sendai virus persistence questions the transient naive reprogramming method for iPSC generation.

Authors :De Los Angeles A , Hug CB , Gladyshev VN , Church GM , Velychko S

Published On :2024 Mar 12

Journal Article

Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease.

Authors :Fleck K , Luria V , Garag N , Karger A , Hunter T , Marten D , Phu W , Nam KM , Sestan N , O'Donnell-Luria AH , Erceg J

Published On :2024 Nov 22

Journal Article

Genetic contribution to disease-course severity and progression in the SUPER-Finland study, a cohort of 10,403 individuals with psychotic disorders.

Authors :Kämpe A , Suvisaari J , Lähteenvuo M , Singh T , Ahola-Olli A , Urpa L , Haaki W , Hietala J , Isometsä E , Jukuri T , Kampman O , Kieseppä T , Lahdensuo K , Lönnqvist J , Männynsalo T , Paunio T , Niemi-Pynttäri J , Suokas K , Tuulio-Henriksson A , Veijola J , Wegelius A , SUPERFinland-Researchers , Daly M , Taylor J , Kendler KS , Palotie A , Pietiläinen O

Published On :2024 Sep

Journal Article

Lithium isotopic constraints on the evolution of continental clay mineral factory and marine oxygenation in the earliest Paleozoic Era.

Authors :Wei GY , Zhao M , Sperling EA , Gaines RR , Kalderon-Asael B , Shen J , Li C , Zhang F , Li G , Zhou C , Cai C , Chen D , Xiao KQ , Jiang L , Ling HF , Planavsky NJ , Tarhan LG

Published On :2024 Mar 29

Journal Article

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

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

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