Publications | International Center for Genetic Disease at Harvard Medical School

Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage.

Authors :Westergaard D , Steinthorsdottir V , Stefansdottir L , Rohde PD , Wu X , Geller F , Tyrmi J , Havulinna AS , Navais PS , Flatley C , Ostrowski SR , Pedersen OB , Erikstrup C , Sørensen E , Mikkelsen C , Brun MT , Jensen BA , Brodersen T , Ullum H , FinnGen , Danish Blood Donor Study Genomic Consortium , Estonian Biobank Research Team , Nordic Collaboration for Womens and Reproductive Health , Magnus P , Andreassen OA , Njolstad PR , Kolte AM , Krebs L , Nyegaard M , Hansen TF , Fenstra B , Daly M , Lindgren CM , Thorleifsson G , Stefansson OA , Sveinbjornsson G , Gudbjartsson DF , Thorsteinsdottir U , Banasik K , Jacobsson B , Laisk T , Laivuori H , Stefansson K , Brunak S , Nielsen HS

Published On :2023 Aug 15

Journal Article

Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Authors :Rodin RE , Dou Y , Kwon M , Sherman MA , D'Gama AM , Doan RN , Rento LM , Girskis KM , Bohrson CL , Kim SN , Nadig A , Luquette LJ , Gulhan DC , Brain Somatic Mosaicism Network , Park PJ , Walsh CA

Published On :2023 Oct

Published Erratum

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

Authors :Singer-Berk M , Gudmundsson S , Baxter S , Seaby EG , England E , Wood JC , Son RG , Watts NA , Karczewski KJ , Harrison SM , MacArthur DG , Rehm HL , O'Donnell-Luria A

Published On :2023 Sep 7

Journal Article

Experimental Investigation on the Flow Boiling of Two Microchannel Heat Sinks Connected in Parallel and Series for Cooling of Multiple Heat Sources.

Authors :Jiang Z , Song M , Shen J , Zhang L , Zhang X , Lin S

Published On :2023 Aug 10

Journal Article

Genetic mapping of craniofacial traits in the Mexican tetra reveals loci associated with bite differences between cave and surface fish.

Authors :Powers AK , Hyacinthe C , Riddle MR , Kim YK , Amaismeier A , Thiel K , Martineau B , Ferrante E , Moran RL , McGaugh SE , Boggs TE , Gross JB , Tabin CJ

Published On :2023 Aug 25

Journal Article

Strategies to identify and edit improvements in synthetic genome segments episomally.

Authors :Rudolph A , Nyerges A , Chiappino-Pepe A , Landon M , Baas-Thomas M , Church G

Published On :2023 Oct 13

Journal Article

Causes of Drug-Induced Severe Cutaneous Adverse Reaction Epidermal Necrolysis (EN): An Analysis Using FDA Adverse Event Reporting System (FAERS) Database.

Authors :Fei W , Shen J , Cai H

Published On :2023

Journal Article

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.

Authors :Maury EA , Sherman MA , Genovese G , Gilgenast TG , Kamath T , Burris SJ , Rajarajan P , Flaherty E , Akbarian S , Chess A , McCarroll SA , Loh PR , Phillips-Cremins JE , Brennand KJ , Macosko EZ , Walters JTR , O'Donovan M , Sullivan P , Psychiatric Genomic Consortium Schizophrenia and CNV workgroup , Brain Somatic Mosaicism Network , Sebat J , Lee EA , Walsh CA

Published On :2023 Aug 9

Journal Article

Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries.

Authors :Surakka I , Wu KH , Hornsby W , Wolford BN , Shen F , Zhou W , Huffman JE , Pandit A , Hu Y , Brumpton B , Skogholt AH , Gabrielsen ME , Walters RG , TOPMed Stroke Working Group , Million Veteran Program (MVP) , Hveem K , Kooperberg C , Zöllner S , Wilson PWF , Sutton NR , Daly MJ , Neale BM , Willer CJ , Global Biobank Meta-analysis Initiative (GBMI)

Published On :2023 Aug 9

Journal Article

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.

Authors :Hong X , Edmondson AC , Strong A , Pomerantz D , Michl E , Berry G , He M

Published On :2023 Nov

Journal Article

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Authors :Lowther C , Valkanas E , Giordano JL , Wang HZ , Currall BB , O'Keefe K , Pierce-Hoffman E , Kurtas NE , Whelan CW , Hao SP , Weisburd B , Jalili V , Fu J , Wong I , Collins RL , Zhao X , Austin-Tse CA , Evangelista E , Lemire G , Aggarwal VS , Lucente D , Gauthier LD , Tolonen C , Sahakian N , Stevens C , An JY , Dong S , Norton ME , MacKenzie TC , Devlin B , Gilmore K , Powell BC , Brandt A , Vetrini F , DiVito M , Sanders SJ , MacArthur DG , Hodge JC , O'Donnell-Luria A , Rehm HL , Vora NL , Levy B , Brand H , Wapner RJ , Talkowski ME

Published On :2023 Sep 7

Journal Article

Role and Therapeutic Potential for Targeting Fibroblast Growth Factor 10/FGFR1 in Relapsed Rheumatoid Arthritis.

Authors :Meng X , Chen Z , Li T , Nie Z , Han H , Zhong S , Yin Z , Sun S , Xie J , Shen J , Xu X , Gao C , Ran L , Xu B , Xiang Z , Wang J , Sun P , Xin P , A X , Zhang C , Qiu G , Gao H , Bian Y , Xu M , Cao B , Li F , Zheng L , Zhang X , Xiao L

Published On :2024 Jan

Journal Article

Comparison of surface microscopy coil and ankle joint special phased array coil magnetic resonance imaging in assessing preoperative osteochondral lesions of the talus.

Authors :Chen Y , Li Y , Liu W , Wang Z , Li J , Chen C , Zeng G , Shen J , Song W

Published On :2023 Aug 1

Journal Article

Progress and limitations in engineering cellular adhesion for research and therapeutics.

Authors :Chao G , Zukin S , Fortuna PRJ , Boettner B , Church GM

Published On :2024 Apr

Journal Article Review

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Authors :Stenton SL , O'Leary M , Lemire G , VanNoy GE , DiTroia S , Ganesh VS , Groopman E , O'Heir E , Mangilog B , Osei-Owusu I , Pais LS , Serrano J , Singer-Berk M , Weisburd B , Wilson M , Austin-Tse C , Abdelhakim M , Althagafi A , Babbi G , Bellazzi R , Bovo S , Carta MG , Casadio R , Coenen PJ , De Paoli F , Floris M , Gajapathy M , Hoehndorf R , Jacobsen JOB , Joseph T , Kamandula A , Katsonis P , Kint C , Lichtarge O , Limongelli I , Lu Y , Magni P , Mamidi TKK , Martelli PL , Mulargia M , Nicora G , Nykamp K , Pejaver V , Peng Y , Pham THC , Podda MS , Rao A , Rizzo E , Saipradeep VG , Savojardo C , Schols P , Shen Y , Sivadasan N , Smedley D , Soru D , Srinivasan R , Sun Y , Sunderam U , Tan W , Tiwari N , Wang X , Wang Y , Williams A , Worthey EA , Yin R , You Y , Zeiberg D , Zucca S , Bakolitsa C , Brenner SE , Fullerton SM , Radivojac P , Rehm HL , O'Donnell-Luria A

Published On :2023 Aug 4

Journal Article