Publications | International Center for Genetic Disease at Harvard Medical School

Study on Risk Factors Affecting Facial Nerve Function After Microsurgical Resection of Acoustic Neuroma.

Authors :Xia D , Zhang Z , Shen J , Ge R , Tan M , Jin Y

Published On :2025 Mar 31

Journal Article

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.

Authors :Jurgens JA , Matos Ruiz PM , King J , Foster EE , Berube L , Chan WM , Barry BJ , Jeong R , Rothman E , Whitman MC , MacKinnon S , Rivera-Quiles C , Pratt BM , Easterbrooks T , Mensching FM , Di Gioia SA , Pais L , England EM , de Berardinis T , Magli A , Koc F , Asakawa K , Kawakami K , O'Donnell-Luria A , Hunter DG , Robson CD , Bulyk ML , Engle EC

Published On :2025 Mar 3

Journal Article

Enhanced Heat Transfer for Thermomagnetic Generation in Low-grade Waste Heat Harvesting.

Authors :Chen H , Liu M , Yu Z , Qiao K , Naeem MZ , Liu J , Xie L , Liu Y , Huang M , Li Z , Shen J , Hu F , Shen B , Zhang H

Published On :2025 May

Journal Article

Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints.

Authors :Yin X , Li J , Bose D , Okamoto J , Kwon A , Jackson AU , Fernandes Silva L , Oravilahti A , Chu X , Stringham HM , Liu L , Peng R , Xia Z , Ripatti S , Daly M , Palotie A , Scott LJ , Burant CF , Fauman EB , Wen X , Boehnke M , Laakso M , Morrison J

Published On :2025 Mar 28

Journal Article

Reply to comment on "Ambient air pollutants exposure during gestation and incidence risk of hypertensive disorders of pregnancy or preeclampsia in China" by Tai-Hang Liu et al.

Authors :Zhang W , Kong M , Jiang Y , Gan Q , Wei J , Zhang Q , Wang J , Shen J , Wu S

Published On :2025 May 15

Letter

5-Hydroxymethylcytosine signatures in circulating cell-free DNA as potential diagnostic markers for breast cancer.

Authors :Aishan N , Ju S , Zheng Z , Chen Y , Meng Q , He Q , Zhang J , Lang J , Xie B , Jin L , Shen J , Lu Y , Cai Y , Ji F , Cao F , Wang L

Published On :2025 May

Journal Article

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Authors :Sierant MC , Jin SC , Bilguvar K , Morton SU , Dong W , Jiang W , Lu Z , Li B , López-Giráldez F , Tikhonova I , Zeng X , Lu Q , Choi J , Zhang J , Nelson-Williams C , Knight JR , Zhao H , Cao J , Mane S , Sedore SC , Gruber PJ , Lek M , Goldmuntz E , Deanfield J , Giardini A , Mital S , Russell M , Gaynor JW , King E , Wagner M , Srivastava D , Shen Y , Bernstein D , Porter GA Jr , Newburger JW , Seidman JG , Roberts AE , Yandell M , Yost HJ , Tristani-Firouzi M , Kim R , Chung WK , Gelb BD , Seidman CE , Brueckner M , Lifton RP

Published On :2025 Apr

Journal Article

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease.

Authors :Kwon H , Son S , Morton SU , Wypij D , Cleveland J , Rollins CK , Huang H , Goldmuntz E , Panigrahy A , Thomas NH , Chung WK , Anagnostou E , Norris-Brilliant A , Gelb BD , McQuillen P , Porter GA Jr , Tristani-Firouzi M , Russell MW , Roberts AE , Newburger JW , Grant PE , Lee JM , Im K

Published On :2025 May

Journal Article

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Authors :Verberkmoes S , Mazza GL , Edmondson AC , Scaglia F , Horikoshi S , Kuschel B , Janssen MCH , Mousa J , Larson A , Shah R , McDonald G , Sarafoglou K , Berry G , Kozicz T , Lam C , Morava E

Published On :2025 May

Journal Article

Contrastive graph auto-encoder for graph embedding.

Authors :Zu S , Li L , Shen J , Tang W

Published On :2025 Jul

Journal Article

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Authors :Del-Pozo-Rodriguez J , Tilly P , Lecat R , Vaca HR , Mosser L , Brivio E , Balla T , Gomes MV , Ramos-Morales E , Schwaller N , Salinas-Giegé T , VanNoy G , England EM , Kern Lovgren A , O'Leary M , Chopra M , Ojeda NM , Toosi MB , Eslahi A , Alerasool M , Mojarrad M , Pais LS , Yeh RC , Gable DL , Hashem MO , Abdulwahab F , Rakiz Alqurashi M , Sbeih LZ , Adas Blanco OA , Khater RA , Oprea G , Rad A , Alzaidan H , Aldhalaan H , Tous E , Alsagheir A , Alowain M , Tamim A , Alfayez K , Alhashem A , Alnuzha A , Kamel M , Al-Awam BS , Elnaggar W , Almenabawy N , O'Donnell-Luria A , Neil JE , Gleeson JG , Walsh CA , Alkuraya FS , AlAbdi L , Elkhateeb N , Selim L , Srivastava S , Nedialkova DD , Drouard L , Romier C , Bayam E , Godin JD

Published On :2025 Mar 22

Journal Article

Impact of the American Society of Breast Surgeons' Guidelines on Genetic Testing and Contralateral Prophylactic Mastectomy Rates.

Authors :Weiss A , Rosito MS , Braun D , Barton B , McGrath M , Stokes S , Laws A , Warren L , Morganti S , Lynce F , Bychkovsky B , Rana HQ , Davis D , Stopfer J , Garber JE , King TA

Published On :2025 Jun

Journal Article

VERY EARLY USE OF ESMOLOL IN HYPERKINETIC SEPTIC SHOCK PATIENTS WITH PERSISTENT TACHYCARDIA: A RANDOMIZED CONTROLLED PILOT STUDY.

Authors :Lu S , Kattan E , Pan C , Shen J , Zhang T , Wang P , Chen Y , He HL , Hernández G , Huang XB , Luo JC

Published On :2025 Jun 1

Journal Article Randomized Controlled Trial

Engineering gene drive docking sites in a haplolethal locus in Anopheles gambiae.

Authors :Smidler AL , Marrogi EA , Scott S , Mameli E , Abernathy D , Akbari OS , Church GM , Catteruccia F , Esvelt K

Published On :2025 Mar 3

Journal Article

Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders.

Authors :Zhou Z , Luquette LJ , Dong G , Kim J , Ku J , Kim K , Bae M , Shao DD , Sahile B , Miller MB , Huang AY , Nathan WJ , Nussenzweig A , Park PJ , Lagier-Tourenne C , Lee EA , Walsh CA

Published On :2025 Mar 8

Journal Article