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Sorafenib promotes hepatocellular carcinoma invasion via interleukin-6/HIF-1α/PFKFB3.

Authors :Zhuang P , Wang D , Zhang K , Wang J , Shen J
Published On :2023
Journal Article


Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.

Authors :Als TD , Kurki MI , Grove J , Voloudakis G , Therrien K , Tasanko E , Nielsen TT , Naamanka J , Veerapen K , Levey DF , Bendl J , Bybjerg-Grauholm J , Zeng B , Demontis D , Rosengren A , Athanasiadis G , Bækved-Hansen M , Qvist P , Bragi Walters G , Thorgeirsson T , Stefánsson H , Musliner KL , Rajagopal VM , Farajzadeh L , Thirstrup J , Vilhjálmsson BJ , McGrath JJ , Mattheisen M , Meier S , Agerbo E , Stefánsson K , Nordentoft M , Werge T , Hougaard DM , Mortensen PB , Stein MB , Gelernter J , Hovatta I , Roussos P , Daly MJ , Mors O , Palotie A , Børglum AD
Published On :2023 Jul
Meta-Analysis Journal Article


Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Authors :Kipkemoi P , Kim HA , Christ B , O'Heir E , Allen J , Austin-Tse C , Baxter S , Brand H , Bryant S , Buser N , de Menil V , Eastman E , Murugasen S , Galvin A , Kombe M , Ngombo A , Mkubwa B , Mwangi P , Kipkoech C , Lovgren A , MacArthur DG , Melly B , Mwangasha K , Martin A , Nkambule LL , Sanchis-Juan A , Singer-Berk M , Talkowski ME , VanNoy G , van der Merwe C , NeuroDev Project , Newton C , O'Donnell-Luria A , Abubakar A , Donald KA , Robinson EB
Published On :2023 Sep 20
Journal Article


Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

Authors :Haghighi A , Alvandi Z , Nilipour Y , Haghighi A , Kornreich R , Nafissi S , Desnick RJ
Published On :2023 Nov
Journal Article


Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5.

Authors :Giri AK , Aavikko M , Wartiovaara L , Lemmetyinen T , Karjalainen J , Mehtonen J , Palin K , Välimäki N , Tamlander M , Saikkonen R , Karhu A , Morgunova E , Sun B , Runz H , Palta P , Luo S , Joensuu H , Mäkelä TP , Kostiainen I , Schalin-Jäntti C , FinnGen , Palotie A , Aaltonen LA , Ollila S , Daly MJ
Published On :2023 Oct
Journal Article


De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Authors :Morleo M , Venditti R , Theodorou E , Briere LC , Rosello M , Tirozzi A , Tammaro R , Al-Badri N , High FA , Shi J , Undiagnosed Diseases Network , Telethon Undiagnosed Diseases Program , Putti E , Ferrante L , Cetrangolo V , Torella A , Walker MA , Tenconi R , Iascone M , Mei D , Guerrini R , van der Smagt J , Kroes HY , van Gassen KLI , Bilal M , Umair M , Pingault V , Attie-Bitach T , Amiel J , Ejaz R , Rodan L , Zollino M , Agrawal PB , Del Bene F , Nigro V , Sweetser DA , Franco B
Published On :2023 Aug 3
Journal Article


Bibliometric analysis of robotic surgery research in breast cancer conducted between 2008 and 2022.

Authors :Ma HF , Lu Y , Shen J
Published On :2023 Jun 30
Journal Article


A framework for individualized splice-switching oligonucleotide therapy.

Authors :Kim J , Woo S , de Gusmao CM , Zhao B , Chin DH , DiDonato RL , Nguyen MA , Nakayama T , Hu CA , Soucy A , Kuniholm A , Thornton JK , Riccardi O , Friedman DA , El Achkar CM , Dash Z , Cornelissen L , Donado C , Faour KNW , Bush LW , Suslovitch V , Lentucci C , Park PJ , Lee EA , Patterson A , Philippakis AA , Margus B , Berde CB , Yu TW
Published On :2023 Jul
Journal Article


MRI-based Quantification of Intratumoral Heterogeneity for Predicting Treatment Response to Neoadjuvant Chemotherapy in Breast Cancer.

Authors :Shi Z , Huang X , Cheng Z , Xu Z , Lin H , Liu C , Chen X , Liu C , Liang C , Lu C , Cui Y , Han C , Qu J , Shen J , Liu Z
Published On :2023 Jul
Journal Article


Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Authors :Byrne AB , Arts P , Ha TT , Kassahn KS , Pais LS , O'Donnell-Luria A , Broad Institute Center for Mendelian Genomics , Babic M , Frank MSB , Feng J , Wang P , Lawrence DM , Eshraghi L , Arriola L , Toubia J , Nguyen H , Genomic Autopsy Study Research Network , McGillivray G , Pinner J , McKenzie F , Morrow R , Lipsett J , Manton N , Khong TY , Moore L , Liebelt JE , Schreiber AW , King-Smith SL , Hardy TSE , Jackson MR , Barnett CP , Scott HS
Published On :2024 Jan
Published Erratum


Metabolome-wide Mendelian randomization characterizes heterogeneous and shared causal effects of metabolites on human health.

Authors :Yin X , Li J , Bose D , Okamoto J , Kwon A , Jackson AU , Silva LF , Oravilahti A , Stringham HM , Ripatti S , Daly M , Palotie A , Scott LJ , Burant CF , Fauman EB , Wen X , Boehnke M , Laakso M , Morrison J
Published On :2023 Jun 29
Journal Article


CHARR efficiently estimates contamination from DNA sequencing data.

Authors :Lu W , Gauthier LD , Poterba T , Giacopuzzi E , Goodrich JK , Stevens CR , King D , Daly MJ , Neale BM , Karczewski KJ
Published On :2023 Jun 28
Journal Article



Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

Authors :Oddsson A , Sulem P , Sveinbjornsson G , Arnadottir GA , Steinthorsdottir V , Halldorsson GH , Atlason BA , Oskarsson GR , Helgason H , Nielsen HS , Westergaard D , Karjalainen JM , Katrinardottir H , Fridriksdottir R , Jensson BO , Tragante V , Ferkingstad E , Jonsson H , Gudjonsson SA , Beyter D , Moore KHS , Thordardottir HB , Kristmundsdottir S , Stefansson OA , Rantapää-Dahlqvist S , Sonderby IE , Didriksen M , Stridh P , Haavik J , Tryggvadottir L , Frei O , Walters GB , Kockum I , Hjalgrim H , Olafsdottir TA , Selbaek G , Nyegaard M , Erikstrup C , Brodersen T , Saevarsdottir S , Olsson T , Nielsen KR , Haraldsson A , Bruun MT , Hansen TF , DBDS Genomic Consortium , Steingrimsdottir T , Jacobsen RL , Lie RT , Djurovic S , Alfredsson L , Lopez de Lapuente Portilla A , Brunak S , Melsted P , Halldorsson BV , Saemundsdottir J , Magnusson OT , Padyukov L , Banasik K , Rafnar T , Askling J , Klareskog L , Pedersen OB , Masson G , Havdahl A , Nilsson B , Andreassen OA , Daly M , Ostrowski SR , Jonsdottir I , Stefansson H , Holm H , Helgason A , Thorsteinsdottir U , Stefansson K , Gudbjartsson DF
Published On :2023 Jul 3
Published Erratum


Phase variation as a major mechanism of adaptation in Mycobacterium tuberculosis complex.

Authors :Vargas R Jr , Luna MJ , Freschi L , Marin M , Froom R , Murphy KC , Campbell EA , Ioerger TR , Sassetti CM , Farhat MR
Published On :2023 Jul 11
Journal Article