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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


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


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


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



Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection.

Authors :Vanderwall RA , Schwartz A , Kipnis L , Skefos CM , Stokes SM , Bhulani N , Weitz M , Gelman R , Garber JE , Rana HQ
Published On :2022 Aug
Journal Article


Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

Authors :Keehan L , Haviland I , Gofin Y , Swanson LC , El Achkar CM , Schreiber J , VanNoy GE , O'Heir E , O'Donnell-Luria A , Lewis RA , Magoulas P , Tran A , Azamian MS , Chao HT , Pham L , Samaco RC , Elsea S , Thorpe E , Kesari A , Perry D , Lee B , Lalani SR , Rosenfeld JA , Olson HE , Burrage LC , Undiagnosed Diseases Network
Published On :2022 Dec
Journal Article


miR-383-5p Regulated by the Transcription Factor CTCF Affects Neuronal Impairment in Cerebral Ischemia by Mediating Deacetylase HDAC9 Activity.

Authors :Shen J , Han Q , Li W , Chen X , Lu J , Zheng J , Xue S
Published On :2022 Oct
Journal Article


Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.

Authors :Rajagopal VM , Duan J , Vilar-Ribó L , Grove J , Zayats T , Ramos-Quiroga JA , Satterstrom FK , Artigas MS , Bybjerg-Grauholm J , Bækvad-Hansen M , Als TD , Rosengren A , Daly MJ , Neale BM , Nordentoft M , Werge T , Mors O , Hougaard DM , Mortensen PB , Ribasés M , Børglum AD , Demontis D
Published On :2022 Aug
Journal Article


Hemodynamic and anatomic changes after fetal aortic valvuloplasty are associated with procedural success and postnatal biventricular circulation.

Authors :Bradford VR , Tworetzky W , Callahan R , Wilkins-Haug LE , Benson CB , Porras D , Guseh SH , Lu M , Sleeper LA , Gellis L , Friedman KG
Published On :2022 Sep
Journal Article