Publications | International Center for Genetic Disease at Harvard Medical School

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 :2025 Mar

Journal Article Multicenter Study

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Authors :Ozdemir O , Bychkovsky BL , Unal B , Onder G , Amanvermez U , Aydin E , Ergun B , Sahin I , Gokbayrak M , Ugurtas C , Koroglu MN , Cakir B , Kalay I , Cine N , Ozbek U , Rana HQ , Hatirnaz Ng O , Agaoglu NB

Published On :2024 Nov 20

Journal Article

Nano-Silica-Based Double-Layer Antireflective Coatings with Mildew Resistance and Moisture Resistance for KDP Crystals.

Authors :Wang X , Zhang C , Jiang H , Wang H , Shen J

Published On :2024 Dec

Journal Article

Comparison of the Cecum Ligation and Puncture Method and the Intraperitoneal Lipopolysaccharide Injection Method for the Construction of a New-Onset Atrial Fibrillation Model of Sepsis.

Authors :Ling X , Shen J , Liang J , Yang K , Yang J

Published On :2024

Journal Article

Prognostic Prediction for Recurrent/Residual CIN in HSIL Patients After Conization: An Updated Retrospective Study Based on Ambulatory Surgery.

Authors :Huang G , Lin W , Gao H , Ren Y , Shen J , Xu S , Liu D , Cai Y , Lin C , Lin X , Jiang T , Dong B , Sun P

Published On :2024

Journal Article

New Insights into the Mechanism of Action of L-681,217, a Medicinally Promising Polyketide Inhibitor of Bacterial Protein Translation.

Authors :Soohoo AM , Aguilar RA , Cho H , Privalsky TM , Liu L , Nguyen KP , Walsh CT , Khosla C

Published On :2024 Dec 17

Journal Article

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

Journal Article

Inherited infertility: Mapping loci associated with impaired female reproduction.

Authors :Ruotsalainen S , Karjalainen J , Kurki M , Lahtela E , Pirinen M , Riikonen J , Ritari J , Tammi S , Partanen J , Laivuori H , FinnGen , Palotie A , Heyne H , Daly M , Widen E

Published On :2024 Dec 5

Journal Article

CPIScore: A Deep Learning Approach for Rapid Scoring and Interpretation of Protein-Ligand Binding Interactions.

Authors :Liang L , Duan Y , Zeng C , Wan B , Yao H , Liu H , Lu T , Zhang Y , Chen Y , Shen J

Published On :2024 Dec 9

Journal Article

Correction: Factors associated with mortality and functional outcome after decompressive craniectomy in malignant middle cerebral artery infarction.

Authors :Shen J , An Q , Zhang S , Ge R , Sun D , Cao J , Fang J , Xia D , Jiang X

Published On :2024 Nov 13

Published Erratum

Boosted the thermal conductivity of liquid metal via bridging diamond particles with graphite.

Authors :Zeng C , Shen X , Shen K , Bao L , Liao G , Shen J

Published On :2025 Feb 15

Journal Article

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Authors :Dofash LNH , Miles LB , Saito Y , Rivas E , Calcinotto V , Oveissi S , Serrano RJ , Templin R , Ramm G , Rodger A , Haywood J , Ingley E , Clayton JS , Taylor RL , Folland CL , Groth D , Hock DH , Stroud DA , Gorokhova S , Donkervoort S , Bönnemann CG , Sud M , VanNoy GE , Mangilog BE , Pais L , O'Donnell-Luria A , Madruga-Garrido M , Scala M , Fiorillo C , Baratto S , Traverso M , Malfatti E , Bruno C , Zara F , Paradas C , Ogata K , Nishino I , Laing NG , Bryson-Richardson RJ , Cabrera-Serrano M , Ravenscroft G

Published On :2024 Nov 12

Journal Article