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A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Authors :Seaby EG , Leggatt G , Cheng G , Thomas NS , Ashton JJ , Stafford I , Baralle D , Rehm HL , O'Donnell-Luria A , Ennis S , Genomics England Research Consortium
Published On :2024 Apr
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.

Authors :Chen S , Francioli LC , Goodrich JK , Collins RL , Kanai M , Wang Q , Alföldi J , Watts NA , Vittal C , Gauthier LD , Poterba T , Wilson MW , Tarasova Y , Phu W , Grant R , Yohannes MT , Koenig Z , Farjoun Y , Banks E , Donnelly S , Gabriel S , Gupta N , Ferriera S , Tolonen C , Novod S , Bergelson L , Roazen D , Ruano-Rubio V , Covarrubias M , Llanwarne C , Petrillo N , Wade G , Jeandet T , Munshi R , Tibbetts K , Genome Aggregation Database Consortium , O'Donnell-Luria A , Solomonson M , Seed C , Martin AR , Talkowski ME , Rehm HL , Daly MJ , Tiao G , Neale BM , MacArthur DG , Karczewski KJ
Published On :2024 Feb
Published Erratum


Acute epicardial pulmonary vein reconnection: Nondurable transmural lesion or late manifestation of conduction through intercaval bundle.

Authors :Gu W , Liu W , Li J , Shen J , Liu R , Liang W , Luo X , Xiong N
Published On :2024 Mar
Journal Article


Giant magnetocaloric effect in spin supersolid candidate Na(2)BaCo(PO(4))(2).

Authors :Xiang J , Zhang C , Gao Y , Schmidt W , Schmalzl K , Wang CW , Li B , Xi N , Liu XY , Jin H , Li G , Shen J , Chen Z , Qi Y , Wan Y , Jin W , Li W , Sun P , Su G
Published On :2024 Jan
Journal Article


Public platform with 39,472 exome control samples enables association studies without genotype sharing.

Authors :Artomov M , Loboda AA , Artyomov MN , Daly MJ
Published On :2024 Feb
Journal Article


Therapeutic efficacy of rare earth carbonate with chemoradiotherapy in late-stage non-small cell lung cancer: a cohort prospective study.

Authors :Cao Q , Ye X , Wu X , Zhang Q , Gong J , Chen Y , You Y , Shen J , Qiang Y , Cao G
Published On :2023
Journal Article Research Support, Non-U.S. Gov't


A cross-sectional study: correlation of forehead morphology and dentoskeletal malocclusion in Chinese people.

Authors :Zheng X , Ding S , Mei Q , Wu C , Zhang Q , Fu C , Han Q , Jin S , Yu R , Yu M , Ye Z , Shen J , Xu J , Liu X , Wu T
Published On :2024 Jan 8
Journal Article


Temporal recording of mammalian development and precancer.

Authors :Islam M , Yang Y , Simmons AJ , Shah VM , Pavan MK , Xu Y , Tasneem N , Chen Z , Trinh LT , Molina P , Ramirez-Solano MA , Sadien I , Dou J , Chen K , Magnuson MA , Rathmell JC , Macara IG , Winton D , Liu Q , Zafar H , Kalhor R , Church GM , Shrubsole MJ , Coffey RJ , Lau KS
Published On :2023 Dec 19
Preprint Journal Article


Nutritional status of the older adults in nursing homes: A cross-sectional study.

Authors :Chen Q , Shen J , Gao Y , Wang XX , Jia QY , Li M
Published On :2024 Jul
Journal Article


Homology and the evolution of vocal folds in the novel avian voice box.

Authors :Longtine C , Eliason CM , Mishkind D , Lee C , Chiappone M , Goller F , Love J , Kingsley EP , Clarke JA , Tabin CJ
Published On :2024 Feb 5
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes.

Authors :Elliott A , Walters RK , Pirinen M , Kurki M , Junna N , Goldstein JI , Reeve MP , Siirtola H , Lemmelä SM , Turley P , Lahtela E , Mehtonen J , Reis K , Elnahas AG , Reigo A , Palta P , Esko T , Mägi R , Estonian Biobank Research Team , FinnGen , Palotie A , Daly MJ , Widén E
Published On :2024 Mar
Journal Article


Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.

Authors :Zhang MJ , Durvasula A , Chiang C , Koch EM , Strober BJ , Shi H , Barton AR , Kim SS , Weissbrod O , Loh PR , Gazal S , Sunyaev S , Price AL
Published On :2023 Dec 15
Preprint Journal Article


Generating new drug repurposing hypotheses using disease-specific hypergraphs.

Authors :Jain A , Charpignon ML , Chen IY , Philippakis A , Alaa A
Published On :2024
Journal Article


Multi-Frequency Ultrasound Imaging Fusion Method Based on Wavelet Transform for Guided Screw Insertion.

Authors :Li X , Cheng X , Xu Y , Jiao Y , Huang W , Cui Y , Shen J , Shao W
Published On :2024 Mar
Journal Article Research Support, Non-U.S. Gov't


Addressing patients' unmet needs related to multidrug-resistant tuberculosis (MDR-TB) care: A qualitative research study from Pune city, India.

Authors :Atre S , Jagtap J , Faqih M , Dumbare Y , Sawant T , Ambike S , Farhat M
Published On :2023
Journal Article