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Thrombosis Risk in Double Heterozygous Carriers of Factor V Leiden and Prothrombin G20210A in FinnGen and the UK Biobank.

Authors :Ryu J , Rämö JT , Jurgens SJ , Niiranen T , Sanna-Cherchi S , Bauer KA , Haj A , Choi SH , Palotie A , Daly M , Ellinor PT , Bendapudi PK
Published On :2024 Mar 18
Journal Article


Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.

Authors :Nazeen S , Wang X , Zielinski D , Lam I , Hallacli E , Xu P , Ethier E , Strom R , Zanella CA , Nithianandam V , Ritter D , Henderson A , Saurat N , Afroz J , Nutter-Upham A , Benyamini H , Copty J , Ravishankar S , Morrow A , Mitchel J , Neavin D , Gupta R , Farbehi N , Grundman J , Myers RH , Scherzer CR , Trojanowski JQ , Van Deerlin VM , Cooper AA , Lee EB , Erlich Y , Lindquist S , Peng J , Geschwind DH , Powell J , Studer L , Feany MB , Sunyaev SR , Khurana V
Published On :2024 Mar 7


Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.

Authors :Del-Pozo-Rodriguez J , Tilly P , Lecat R , Vaca HR , Mosser L , Balla T , Gomes MV , Ramos-Morales E , Brivio E , Salinas-Giégé T , VanNoy G , England EM , Lovgren AK , O'Leary M , Chopra M , Gable D , Alnuzha A , Kamel M , Almenabawy N , O'Donnell-Luria A , Neil JE , Gleeson JG , Walsh CA , Elkhateeb N , Selim L , Srivastava S , Nedialkova DD , Drouard L , Romier C , Bayam E , Godin JD
Published On :2024 Mar 5


Metabolic coupling between glutamate and N-acetylaspartate in the human brain.

Authors :Hong S , Tomar JS , Shen J
Published On :2024 Mar 14
Journal Article


De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Authors :Pan X , Tao AM , Lu S , Ma M , Hannan SB , Slaugh R , Drewes Williams S , O'Grady L , Kanca O , Person R , Carter MT , Platzer K , Schnabel F , Abou Jamra R , Roberts AE , Newburger JW , Revah-Politi A , Granadillo JL , Stegmann APA , Sinnema M , Accogli A , Salpietro V , Capra V , Ghaloul-Gonzalez L , Brueckner M , Simon MEH , Sweetser DA , Glinton KE , Kirk SE , Baylor College of Medicine Center for Precision Medicine Models , Wangler MF , Yamamoto S , Chung WK , Bellen HJ
Published On :2024 Mar 6
Journal Article


Comparative Analysis of Six Complete Plastomes of Tripterospermum spp.

Authors :Tu XD , Lin WJ , Fu HH , Lin YZ , Shen J , Chen S , Liu ZJ , Li MH , Chen SP
Published On :2024 Feb 22
Journal Article


Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Authors :Rana HQ , Koeller DR , Walker M , Unal B , Levine AS , Chittenden A , Isidro RA , Hayes CP , Manam MD , Buehler RM , Manning DK , Barletta JA , Hornick JL , Garber JE , Ghazani AA , Int Grate Oncology Consortium
Published On :2024 Feb 26
Journal Article


CT-based pancreatic radiomics predicts secondary loss of response to infliximab in biologically naïve patients with Crohn's disease.

Authors :Yang T , Feng J , Yao R , Feng Q , Shen J
Published On :2024 Mar 13
Journal Article


Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Authors :Urpa L , Kurki MI , Rahikkala E , Hämäläinen E , Salomaa V , Suvisaari J , Keski-Filppula R , Rauhala M , Korpi-Heikkilä S , Komulainen-Ebrahim J , Helander H , Vieira P , Uusimaa J , Moilanen JS , Körkkö J , Singh T , Kuismin O , Pietiläinen O , Palotie A , Daly MJ
Published On :2024 Mar 11
Journal Article


Evaluating generalizability of artificial intelligence models for molecular datasets.

Authors :Ektefaie Y , Shen A , Bykova D , Marin M , Zitnik M , Farhat M
Published On :2024 Feb 28


Exploring gene content with pangenome gene graphs.

Authors :Li H , Marin M , Farhat MR
Published On :2024 Feb 27



Associations between neutrophil-to-lymphocyte/platelet-to-lymphocyte and recovery in sudden sensorineural hearing loss.

Authors :Huang X , Ni X , Shen J , Chen L , Xu L , Tang X
Published On :2024 Feb
Journal Article


Analysis of immunoinfiltration and EndoMT based on TGF-β signaling pathway-related genes in acute myocardial infarction.

Authors :Shen J , Liang J , Rejiepu M , Ma Z , Zhao J , Li J , Zhang L , Yuan P , Wang J , Tang B
Published On :2024 Mar 2
Journal Article


Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Authors :Panis B , Vos EN , Barić I , Bosch AM , Brouwers MCGJ , Burlina A , Cassiman D , Coman DJ , Couce ML , Das AM , Demirbas D , Empain A , Gautschi M , Grafakou O , Grunewald S , Kingma SDK , Knerr I , Leão-Teles E , Möslinger D , Murphy E , Õunap K , Pané A , Paci S , Parini R , Rivera IA , Scholl-Bürgi S , Schwartz IVD , Sdogou T , Shakerdi LA , Skouma A , Stepien KM , Treacy EP , Waisbren S , Berry GT , Rubio-Gozalbo ME
Published On :2024
Journal Article Review