Publications | International Center for Genetic Disease at Harvard Medical School

Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer's Disease and Autoimmune Diseases.

Authors :Sundstrom J , Vanderleeden E , Barton NJ , Redick SD , Dawes P , Murray LF , Olson MN , Tran K , Chigas SM , Orszulak AR , Church GM , Readhead B , Oh HS , Harlan DM , Knipe DM , Wang JP , Chan Y , Lim ET

Published On :2024 Nov 29

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

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Authors :Yu M , Zhang Q , Yuan K , Sazonovs A , Stevens C , Fachal L , International Inflammatory Bowel Disease Genetics Consortium , Anderson CA , Daly MJ , Huang H

Published On :2024 Dec 5

Journal Article Preprint

Analysis of Variants Induced by Combined Ex Vivo Irradiation and In Vivo Tumorigenesis Suggests a Role for the ZNF831 p.R1393Q Variant in Cutaneous Melanoma Development.

Authors :Usoltsev D , Njauw CN , Ji Z , Kumar R , Sergushichev A , Zhang S , Shlyakhto E , Daly MJ , Artomov M , Tsao H

Published On :2025 Jul

Journal Article

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

Authors :Weisburd B , Sharma R , Pata V , Reimand T , Ganesh VS , Austin-Tse C , Osei-Owusu I , O'Heir E , O'Leary M , Pais L , Stafki SA , Daugherty AL , Folland C , Peric S , Fahmy N , Udd B , Horáková M , Łusakowska A , Manoj R , Nalini A , Karcagi V , Polavarapu K , Lochmüller H , Horvath R , Bönnemann CG , Donkervoort S , Haliloğlu G , Herguner O , Kang PB , Ravenscroft G , Laing N , Scott HS , Töpf A , Straub V , Pajusalu S , Õunap K , Tiao G , Rehm HL , O'Donnell-Luria A

Published On :2025 Apr

Journal Article

Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing.

Authors :Li K , Quiat D , She F , Liu Y , He R , Haghighi A , Liu F , Zhang R , DePalma SR , Yang Y , Wang W , Seidman CE , Zhang P , Seidman JG

Published On :2024

Journal Article

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Authors :Kerman BJ , Zawatsky CBL , Fieg E , Frank NY , Donnelly RS , Green RC , Kennedy JC , Lakdawala N , Licurse AM , Perez EF , Preys CL , Krier JB , Rana HQ , Zettler B , Vassy JL

Published On :2024

Journal Article

Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes.

Authors :Agaoglu NB , Bychkovsky BL , Horton C , Lo MT , Polfus L , Carraway C , Hemyari P , Young C , Richardson ME , Scheib R , Garber JE , Rana HQ

Published On :2024

Journal Article

Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer.

Authors :Landry KK , DeSarno MJ , Kipnis L , Barquet Ramos F , Breen KM , Patton K , Morrissette A , Buehler RM , Ukaegbu C , Rohanizadegan M , Yurgelun MB , Syngal S , Rana HQ , Garber JE

Published On :2024 Dec

Journal Article

Confronting risks of mirror life.

Authors :Adamala KP , Agashe D , Belkaid Y , Bittencourt DMC , Cai Y , Chang MW , Chen IA , Church GM , Cooper VS , Davis MM , Devaraj NK , Endy D , Esvelt KM , Glass JI , Hand TW , Inglesby TV , Isaacs FJ , James WG , Jones JDG , Kay MS , Lenski RE , Liu C , Medzhitov R , Nicotra ML , Oehm SB , Pannu J , Relman DA , Schwille P , Smith JA , Suga H , Szostak JW , Talbot NJ , Tiedje JM , Venter JC , Winter G , Zhang W , Zhu X , Zuber MT

Published On :2024 Dec 20

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

Editorial: Recent advances in understanding the role and mechanisms of gut microbiota in inflammatory bowel disease and irritable bowel syndrome.

Authors :Yadegar A , Salahi-Niri A , Dai C , Shen J

Published On :2024

Editorial

Ovarian tumor cells gain competitive advantage by actively reducing the cellular fitness of microenvironment cells.

Authors :Madan E , Palma AM , Vudatha V , Kumar A , Bhoopathi P , Wilhelm J , Bernas T , Martin PC , Bilolikar G , Gogna A , Peixoto ML , Dreier I , Araujo TF , Garre E , Gustafsson A , Dorayappan KDP , Mamidi N , Sun Z , Yekelchyk M , Accardi D , Olsen AL , Lin L , Titelman AA , Bianchi M , Jessmon P , Farid EA , Pradhan AK , Neufeld L , Yeini E , Maji S , Pelham CJ , Kim H , Oh D , Rolfsnes HO , Marques RC , Lu A , Nagane M , Chaudhary S , Gupta K , Gogna KC , Bigio A , Bhoopathi K , Mannangatti P , Achary KG , Akhtar J , Belião S , Das S , Correia I , da Silva CL , Fialho AM , Poellmann MJ , Javius-Jones K , Hawkridge AM , Pal S , Shree KS , Rakha EA , Khurana S , Xiao G , Zhang D , Rijal A , Lyons C , Grossman SR , Turner DP , Pillappa R , Prakash K , Gupta G , Robinson GLWG , Koblinski J , Wang H , Singh G , Singh S , Rayamajhi S , Bacolod MD , Richards H , Sayeed S , Klein KP , Chelmow D , Satchi-Fainaro R , Selvendiran K , Connolly D , Thorsen FA , Bjerkvig R , Nephew KP , Idowu MO , Kühnel MP , Moskaluk C , Hong S , Redmond WL , Landberg G , Lopez-Beltran A , Poklepovic AS , Sanyal A , Fisher PB , Church GM , Menon U , Drapkin R , Godwin AK , Luo Y , Ackermann M , Tzankov A , Mertz KD , Jonigk D , Tsung A , Sidransky D , Trevino J , Saavedra AP , Winn R , Won KJ , Moreno E , Gogna R

Published On :2025 Nov

Journal Article

CGPDTA: An Explainable Transfer Learning-Based Predictor With Molecule Substructure Graph for Drug-Target Binding Affinity.

Authors :Fan Q , Liu Y , Zhang S , Ning X , Xu C , Han W , Zhang Y , Chen Y , Shen J , Liu H

Published On :2025 Jan 5

Journal Article

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Authors :Kingsmore SF , Wright M , Olsen L , Schultz B , Protopsaltis L , Averbuj D , Blincow E , Carroll J , Caylor S , Defay T , Ellsworth K , Feigenbaum A , Gover M , Guidugli L , Hansen C , Van Der Kraan L , Kunard CM , Kwon H , Madhavrao L , Leipzig J , Liang Y , Mardach R , Mowrey WR , Nguyen H , Niemi AK , Oh D , Saad M , Scharer G , Schleit J , Mehtalia SS , Sanford E , Smith LD , Willis MJ , Wigby K , Reimers R

Published On :2024 Dec 5

Journal Article

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

Authors :Kingsmore SF , Wright M , Smith LD , Liang Y , Mowrey WR , Protopsaltis L , Bainbridge M , Baker M , Batalov S , Blincow E , Cao B , Caylor S , Chambers C , Ellsworth K , Feigenbaum A , Frise E , Guidugli L , Hall KP , Hansen C , Kiel M , Van Der Kraan L , Krilow C , Kwon H , Madhavrao L , Lefebvre S , Leipzig J , Mardach R , Moore B , Oh D , Olsen L , Ontiveros E , Owen MJ , Reimers R , Scharer G , Schleit J , Shelnutt S , Mehtalia SS , Oriol A , Sanford E , Schwartz S , Wigby K , Willis MJ , Yandell M , Kunard CM , Defay T

Published On :2024 Dec 5

Journal Article

Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.

Authors :Jurgens SJ , Rämö JT , Kramarenko DR , Wijdeveld LFJM , Haas J , Chaffin MD , Garnier S , Gaziano L , Weng LC , Lipov A , Zheng SL , Henry A , Huffman JE , Challa S , Rühle F , Verdugo CD , Krijger Juárez C , Kany S , van Orsouw CA , Biddinger K , Poel E , Elliott AL , Wang X , Francis C , Ruan R , Koyama S , Beekman L , Zimmerman DS , Deleuze JF , Villard E , Trégouët DA , Isnard R , FinnGen , VA Million Veteran Program , HERMES Consortium , Boomsma DI , de Geus EJC , Tadros R , Pinto YM , Wilde AAM , Hottenga JJ , Sinisalo J , Niiranen T , Walsh R , Schmidt AF , Choi SH , Chang KM , Tsao PS , Matthews PM , Ware JS , Lumbers RT , van der Crabben S , Laukkanen J , Palotie A , Amin AS , Charron P , Meder B , Ellinor PT , Daly M , Aragam KG , Bezzina CR

Published On :2024 Dec

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