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Unsupervised deep learning of electrocardiograms enables scalable human disease profiling.

Authors :Friedman SF , Khurshid S , Venn RA , Wang X , Diamant N , Di Achille P , Weng LC , Choi SH , Reeder C , Pirruccello JP , Singh P , Lau ES , Philippakis A , Anderson CD , Maddah M , Batra P , Ellinor PT , Ho JE , Lubitz SA
Published On :2025 Jan 12
Journal Article


Analysis of the miRNA Transcriptome in Aconitum vilmorinianum and Its Regulation of Diterpenoid Alkaloid Biosynthesis.

Authors :Zhao X , Li Y , Shen J , Guo C , Li J , Chen M , Xu H , Li K
Published On :2025 Jan 3
Journal Article


In vivo GABA detection by single-pulse editing with one shot.

Authors :An L , Hong S , Turon T , Pavletic A , Johnson CS , Derbyshire JA , Shen J
Published On :2025 Jul
Journal Article


Abaloparatide Enhances Bone Regeneration in Extraction Socket Dental Implant Defects: An Experimental In Vivo Study.

Authors :Latimer J , Yilmaz B , Feher B , Shiba T , Fretwurst T , Mitlak B , Lanske B , Kostenuik P , Giannobile WV
Published On :2025 Apr
Journal Article


GREGoR: Accelerating Genomics for Rare Diseases.

Authors :Dawood M , Heavner B , Wheeler MM , Ungar RA , LoTempio J , Wiel L , Berger S , Bernstein JA , Chong JX , Délot EC , Eichler EE , Gibbs RA , Lupski JR , Shojaie A , Talkowski ME , Wagner AH , Wei CL , Wellington C , Wheeler MT , GREGoR Partner Members , Carvalho CMB , Gifford CA , May S , Miller DE , Rehm HL , Sedlazeck FJ , Vilain E , O'Donnell-Luria A , Posey JE , Chadwick LH , Bamshad MJ , Montgomery SB , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
Published On :2024 Dec 18
Journal Article


Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Authors :Stenton SL , Laricchia K , Lake NJ , Chaluvadi S , Ganesh V , DiTroia S , Osei-Owusu I , Pais L , O'Heir E , Austin-Tse C , O'Leary M , Abu Shanap M , Barrows C , Berger S , Bönnemann CG , Bujakowska KM , Campagna DR , Compton AG , Donkervoort S , Fleming MD , Gallacher L , Gleeson JG , Haliloglu G , Pierce EA , Place EM , Sankaran VG , Shimamura A , Stark Z , Tan TY , Thorburn DR , White SM , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium , Vilain E , Lek M , Rehm HL , O'Donnell-Luria A
Published On :2024 Dec 26
Journal Article


Factors governing H3+ formation from methyl halogens and pseudohalogens.

Authors :Stamm J , Priyadarsini SS , Sandhu S , Chakraborty A , Shen J , Kwon S , Sandhu J , Wicka C , Mehmood A , Levine BG , Piecuch P , Dantus M
Published On :2025 Jan 6
Journal Article


Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Authors :Frazier ZJ , Kilic S , Osika H , Mo A , Quinn M , Ballal S , Katz T , Shearer AE , Horlbeck MA , Pais LS , Dies KA , O'Donnell-Luria A , Kossowsky J , Lipton JO , Kleefstra T , Srivastava S
Published On :2025 Jun
Journal Article


Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.

Authors :Bychkovsky BL , Agaoglu NB , Horton C , Polfus L , Richardson ME , Young C , Scheib R , Garber JE , Rana HQ
Published On :2025 Jan 2
Journal Article


Comprehensive analysis of heterogeneity and cell-cell interactions in Crohn's disease reveals novel location-specific insights.

Authors :Feng J , He LN , Yao R , Qiao Y , Yang T , Cui Z , Meng X , Tong J , Jia K , Zuo Z , Shen J
Published On :2025 Oct
Journal Article


Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Authors :Sabeh P , Dumas SA , Maios C , Daghar H , Korzeniowski M , Rousseau J , Lines M , Guerin A , Millichap JJ , Landsverk M , Grebe T , Lindstrom K , Strober J , Ait Mouhoub T , Zweier C , Steinraths M , Hebebrand M , Callewaert B , Abou Jamra R , Kautza-Lucht M , Wegler M , Kruszka P , Kumps C , Banne E , Waberski MB , Dieux A , Raible S , Krantz I , Medne L , Pechter K , Villard L , Guerrini R , Bianchini C , Barba C , Mei D , Blanc X , Kallay C , Ranza E , Yang XR , O'Heir E , Donald KA , Murugasen S , Bruwer Z , Calikoglu M , Mathews JM , Lesieur-Sebellin M , Baujat G , Derive N , Pierson TM , Murrell JR , Shillington A , Ormieres C , Rondeau S , Reis A , Fernandez-Jaen A , Au PYB , Sweetser DA , Briere LC , Couque N , Perrin L , Schymick J , Gueguen P , Lefebvre M , Van Andel M , Juusola J , Antonarakis SE , Parker JA , Burnett BG , Campeau PM
Published On :2025 Jan 2
Journal Article


Mapping the knowledge landscape: A bibliometric analysis of exosome research in osteoarthritis (2004-2023).

Authors :Xu H , Wang Z , Wang Z , Chen J , Zhao C , Kang B , Xu X , Shen J , Li M , Diao J , Xie J , Xiao L
Published On :2024 Dec 15
Journal Article Review


Selectivity promotion of Cu by manganese oxide in hydrogenative ring opening of furfural to pentanediols.

Authors :Li H , Li H , Shen J , Liang C , Zhang X , Zhang W , Li Y , Conrad Zhang Z
Published On :2025 Jan 16
Journal Article


Search for a genetic cause of variably protease-sensitive prionopathy.

Authors :Lian Y , Kotobelli K , Hall S , Talkowski ME , O'Donnell-Luria A , Vallabh SM , Appleby BS , Minikel EV
Published On :2025 Mar 17
Journal Article