Publications | International Center for Genetic Disease at Harvard Medical School

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 :2024 Dec 9

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

Published Erratum

A Record-High Cryogenic Magnetocaloric Effect Discovered in EuCl(2) Compound.

Authors :Wang B , Liu X , Hu F , Wang JT , Xiang J , Sun P , Wang J , Sun J , Zhao T , Mo Z , Shen J , Chen Y , Huang Q , Shen B

Published On :2024 Dec 25

Journal Article

Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system.

Authors :Adameyko I , Bakken T , Bhaduri A , Chhatbar C , Filbin MG , Gate D , Hochgerner H , Kim CN , Krull J , La Manno G , Li Q , Linnarsson S , Ma Q , Mayer C , Menon V , Nano P , Prinz M , Quake S , Walsh CA , Yang J , Bayraktar OA , Gokce O , Habib N , Konopka G , Liddelow SA , Nowakowski TJ

Published On :2024 Dec

Journal Article Review

Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss.

Authors :Liu A , Genovese G , Zhao Y , Pirinen M , Zekavat SM , Kentistou KA , Yang Z , Yu K , Vlasschaert C , Liu X , Brown DW , Hudjashov G , Gorman BR , Dennis J , Zhou W , Momozawa Y , Pyarajan S , Tuzov V , Pajuste FD , Aavikko M , Sipilä TP , Ghazal A , Huang WY , Freedman ND , Song L , Gardner EJ , FinnGen , Estonian Biobank Research Team , Breast Cancer Association Consortium , Million Veteran Program , Sankaran VG , Palotie A , Ollila HM , Tukiainen T , Chanock SJ , Mägi R , Natarajan P , Daly MJ , Bick A , McCarroll SA , Terao C , Loh PR , Ganna A , Perry JRB , Machiela MJ

Published On :2024 Dec

Published Erratum

Are complex traits underpinned by polygenic molecular traits? A reflection on the complexity of gene expression.

Authors :Hajheideri M , Sunyaev S , de Meaux J

Published On :2024 Nov 29

Journal Article

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Authors :French CE , Andrews NC , Beggs AH , Boone PM , Brownstein CA , Chopra M , Chou J , Chung WK , D'Gama AM , Doan RN , Ebrahimi-Fakhari D , Goldstein RD , Irons M , Jacobsen C , Kenna M , Lee T , Madden JA , Majmundar AJ , Mann N , Morton SU , Poduri A , Randolph AG , Roberts AE , Roberts S , Sampson MG , Shao DD , Shao W , Sharma A , Shearer E , Shimamura A , Snapper SB , Srivastava S , Thiagarajah JR , Whitman MC , Wojcik MH , Rockowitz S , Sliz P

Published On :2024 Dec 2

Journal Article

Revealing multi-level shortrange migration of electrons on full-spectrum response e-LDH/t-BiOCl/Bi(2)S(3) and their essential role in the detoxification of Cr(VI) and refractory organic pollutants.

Authors :Bai J , Wang C , Zhang X , Li X , Mao Y , Liang W , Zhang C , Xiao X , Shen J

Published On :2024 Nov 30

Journal Article

Patient voices on PKU care: Insights from focus groups with current and former patients.

Authors :Zhu E , Hollander S , Sacharow S

Published On :2024 Dec

Journal Article

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Authors :Broeren E , Gitau V , Byrne A , Ajuyah P , Balzotti M , Berg J , Bluske K , Bowen BM , Brown MP , Buchanan A , Burns B , Burns NJ , Chandrasekhar A , Chawla A , Chong J , Chopra M , Clause A , DiStefano M , DiTroia S , Elnagheeb M , Girod A , Goel H , Golden-Grant K , Ha T , Hamosh A , Huang J , Hughes M , Jamuar S , Kam S , Kesari A , Koh AL , Lassiter R , Leigh S , Lemire G , Lim JY , Malhotra A , McCurry H , Milewski B , Moosa S , Murray S , Owens E , Palmer E , Palus B , Patel M , Rajkumar R , Ratliff J , Raymond FL , Assis BDRR , Sajan S , Schlachetzki Z , Schmidt S , Stark Z , Strom S , Taylor J , Thaxton C , Thrush D , Toro S , Tshering K , Vasilevsky N , Wayburn B , Webb R , O'Donnell-Luria A , Coffey AJ

Published On :2024 Nov 20

Journal Article

Loss of CFHR5 function reduces the risk for age-related macular degeneration.

Authors :Reeve MP , Loomis S , Nissilä E , Rausch T , Zheng Z , Briotta Parolo PD , Ben-Isvy D , Aho E , Cesetti E , Okunuki Y , McLaughlin H , Mäkelä J , FinnGen , Kurki M , Talkowski ME , Korbel JO , Connor K , Meri S , Daly MJ , Runz H

Published On :2024 Nov 11

Journal Article

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Authors :Mullen MP , Ivy DD , Varghese NP , Winant AJ , Cortes-Santiago N , Vargas SO , Porres D , Maschietto N , Critser PJ , Hirsch R , Avitabile CM , Hopper RK , Frank BS , Coleman RD , Agrawal PB , Madden JA , Roberts AE , Collins SL , Raj JU , Austin ED , Chung WK , Abman SH

Published On :2024 Nov 26

Journal Article