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Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity.

Authors :Choudhury S , Huang AY , Kim J , Zhou Z , Morillo K , Maury EA , Tsai JW , Miller MB , Lodato MA , Araten S , Hilal N , Lee EA , Chen MH , Walsh CA
Published On :2022 Aug
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Deep learning on resting electrocardiogram to identify impaired heart rate recovery.

Authors :Diamant N , Di Achille P , Weng LC , Lau ES , Khurshid S , Friedman S , Reeder C , Singh P , Wang X , Sarma G , Ghadessi M , Mielke J , Elci E , Kryukov I , Eilken HM , Derix A , Ellinor PT , Anderson CD , Philippakis AA , Batra P , Lubitz SA , Ho JE
Published On :2022 Aug
Journal Article


Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Authors :Sazonovs A , Stevens CR , Venkataraman GR , Yuan K , Avila B , Abreu MT , Ahmad T , Allez M , Ananthakrishnan AN , Atzmon G , Baras A , Barrett JC , Barzilai N , Beaugerie L , Beecham A , Bernstein CN , Bitton A , Bokemeyer B , Chan A , Chung D , Cleynen I , Cosnes J , Cutler DJ , Daly A , Damas OM , Datta LW , Dawany N , Devoto M , Dodge S , Ellinghaus E , Fachal L , Farkkila M , Faubion W , Ferreira M , Franchimont D , Gabriel SB , Ge T , Georges M , Gettler K , Giri M , Glaser B , Goerg S , Goyette P , Graham D , Hämäläinen E , Haritunians T , Heap GA , Hiltunen M , Hoeppner M , Horowitz JE , Irving P , Iyer V , Jalas C , Kelsen J , Khalili H , Kirschner BS , Kontula K , Koskela JT , Kugathasan S , Kupcinskas J , Lamb CA , Laudes M , Lévesque C , Levine AP , Lewis JD , Liefferinckx C , Loescher BS , Louis E , Mansfield J , May S , McCauley JL , Mengesha E , Mni M , Moayyedi P , Moran CJ , Newberry RD , O'Charoen S , Okou DT , Oldenburg B , Ostrer H , Palotie A , Paquette J , Pekow J , Peter I , Pierik MJ , Ponsioen CY , Pontikos N , Prescott N , Pulver AE , Rahmouni S , Rice DL , Saavalainen P , Sands B , Sartor RB , Schiff ER , Schreiber S , Schumm LP , Segal AW , Seksik P , Shawky R , Sheikh SZ , Silverberg MS , Simmons A , Skeiceviciene J , Sokol H , Solomonson M , Somineni H , Sun D , Targan S , Turner D , Uhlig HH , van der Meulen AE , Vermeire S , Verstockt S , Voskuil MD , Winter HS , Young J , Belgium IBD Consortium , Cedars-Sinai IBD , International IBD Genetics Consortium , NIDDK IBD Genetics Consortium , NIHR IBD BioResource , Regeneron Genetics Center , SHARE Consortium , SPARC IBD Network , UK IBD Genetics Consortium , Duerr RH , Franke A , Brant SR , Cho J , Weersma RK , Parkes M , Xavier RJ , Rivas MA , Rioux JD , McGovern DPB , Huang H , Anderson CA , Daly MJ
Published On :2022 Sep
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


The All of Us Research Program: Data quality, utility, and diversity.

Authors :Ramirez AH , Sulieman L , Schlueter DJ , Halvorson A , Qian J , Ratsimbazafy F , Loperena R , Mayo K , Basford M , Deflaux N , Muthuraman KN , Natarajan K , Kho A , Xu H , Wilkins C , Anton-Culver H , Boerwinkle E , Cicek M , Clark CR , Cohn E , Ohno-Machado L , Schully SD , Ahmedani BK , Argos M , Cronin RM , O'Donnell C , Fouad M , Goldstein DB , Greenland P , Hebbring SJ , Karlson EW , Khatri P , Korf B , Smoller JW , Sodeke S , Wilbanks J , Hentges J , Mockrin S , Lunt C , Devaney SA , Gebo K , Denny JC , Carroll RJ , Glazer D , Harris PA , Hripcsak G , Philippakis A , Roden DM , All of Us Research Program
Published On :2022 Aug 12
Journal Article


Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations.

Authors :Koch EM , Du J , Dressner M , Alwasti HE , Al Taif Z , Shehab F , Mohamed AM , Ghanem A , Alhajeri A , Alawadhi A , Almoamen N , Ashoor K , Hasan S , Haghighi A , Sunyaev S , Farhat M
Published On :2023 Oct 12
Preprint Journal Article


Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Authors :Burton BK , Hermida Á , Bélanger-Quintana A , Bell H , Bjoraker KJ , Christ SE , Grant ML , Harding CO , Huijbregts SCJ , Longo N , McNutt MC 2nd , Nguyen-Driver MD , Santos Pessoa AL , Rocha JC , Sacharow S , Sanchez-Valle A , Sivri HS , Vockley J , Walterfang M , Whittle S , Muntau AC
Published On :2022 Sep-Oct
Journal Article Research Support, Non-U.S. Gov't



The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Authors :Lai A , Soucy A , El Achkar CM , Barkovich AJ , Cao Y , DiStefano M , Evenson M , Guerrini R , Knight D , Lee YS , Mefford HC , Miller DT , Mirzaa G , Mochida G , Rodan LH , Patel M , Smith L , Spencer S , Walsh CA , Yang E , Yuskaitis CJ , Yu T , Poduri A , ClinGen Brain Malformation Variant Curation Expert Panel
Published On :2022 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


The molecular and epidemiological characteristics of carbapenemase-producing Enterobacteriaceae isolated from children in Shanghai, China, 2016-2021.

Authors :Fu P , Luo X , Shen J , He L , Rong H , Li C , Chen S , Zhang L , Wang A , Wang C
Published On :2023 Feb
Journal Article


Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Authors :Fu JM , Satterstrom FK , Peng M , Brand H , Collins RL , Dong S , Wamsley B , Klei L , Wang L , Hao SP , Stevens CR , Cusick C , Babadi M , Banks E , Collins B , Dodge S , Gabriel SB , Gauthier L , Lee SK , Liang L , Ljungdahl A , Mahjani B , Sloofman L , Smirnov AN , Barbosa M , Betancur C , Brusco A , Chung BHY , Cook EH , Cuccaro ML , Domenici E , Ferrero GB , Gargus JJ , Herman GE , Hertz-Picciotto I , Maciel P , Manoach DS , Passos-Bueno MR , Persico AM , Renieri A , Sutcliffe JS , Tassone F , Trabetti E , Campos G , Cardaropoli S , Carli D , Chan MCY , Fallerini C , Giorgio E , Girardi AC , Hansen-Kiss E , Lee SL , Lintas C , Ludena Y , Nguyen R , Pavinato L , Pericak-Vance M , Pessah IN , Schmidt RJ , Smith M , Costa CIS , Trajkova S , Wang JYT , Yu MHC , Autism Sequencing Consortium (ASC) , Broad Institute Center for Common Disease Genomics (Broad-CCDG) , iPSYCH-BROAD Consortium , Cutler DJ , De Rubeis S , Buxbaum JD , Daly MJ , Devlin B , Roeder K , Sanders SJ , Talkowski ME
Published On :2022 Sep
Journal Article Meta-Analysis Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, N.I.H., Extramural


Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.

Authors :Ruotsalainen SE , Surakka I , Mars N , Karjalainen J , Kurki M , Kanai M , Krebs K , Graham S , Mishra PP , Mishra BH , Sinisalo J , Palta P , Lehtimäki T , Raitakari O , Estonian Biobank Research Team , Milani L , Biobank Japan Project , Okada Y , FinnGen , Palotie A , Widen E , Daly MJ , Ripatti S
Published On :2022 Aug 17
Journal Article Meta-Analysis Research Support, Non-U.S. Gov't


Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

Authors :Puurunen MK , Vockley J , Searle SL , Sacharow SJ , Phillips JA 3rd , Denney WS , Goodlett BD , Wagner DA , Blankstein L , Castillo MJ , Charbonneau MR , Isabella VM , Sethuraman VV , Riese RJ , Kurtz CB , Brennan AM
Published On :2022 Sep
Published Erratum


ADC and kinetic parameter of primary tumor: Surrogate imaging markers for fertility-sparing vaginal radical trachelectomy in patients with stage IB cervical cancer.

Authors :Bai Z , Shi J , Wang J , Zhong J , Zeng W , Yang Z , Hu H , Shen J
Published On :2022 Oct
Journal Article


Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time.

Authors :Hollander S , Viau K , Sacharow S
Published On :2022 Sep-Oct
Journal Article


One Clinician Is All You Need-Cardiac Magnetic Resonance Imaging Measurement Extraction: Deep Learning Algorithm Development.

Authors :Singh P , Haimovich J , Reeder C , Khurshid S , Lau ES , Cunningham JW , Philippakis A , Anderson CD , Ho JE , Lubitz SA , Batra P
Published On :2022 Sep 16
Journal Article