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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 :2024 Dec 24
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 :2024 Dec 23
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 :2024 Dec 14
Journal Article


Bridging silicon and carbon worlds with digital twins and on-chip systems in drug discovery.

Authors :Akbarialiabad H , Seyyedi MS , Paydar S , Habibzadeh A , Haghighi A , Kvedar JC
Published On :2024 Dec 19
Journal Article


Macropinocytosis enhances foamy macrophage formation and cholesterol crystallization to activate NLRP3 inflammasome after spinal cord injury.

Authors :Zhang C , Zhao S , Huang Z , Xue A , Liu H , Dai S , Zheng Z , Li Y , Guo X , Gu J , Zhang F , Wang F , Wang Y , Zhou X , Zhang S , Zhang H , Shen J , Chen J , Yin G
Published On :2024 Dec 12
Journal Article


Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia.

Authors :Lokki AI , Triebwasser M , Daly E , FINNPEC Core Investigator Group , Kurki MI , Perola M , Auro K , Salmon JE , Anuja J , Daly M , Atkinson JP , Laivuori H , Meri S
Published On :2024 Dec 17
Journal Article


Case report: A rare case of renal epithelioid angiosarcoma.

Authors :Zhai J , Che B , Shen J , Cen K , Zhang Y , Li T , Tang D , Tang K
Published On :2024
Journal Article


Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer's Disease and Autoimmune Diseases.

Authors :Sundstrom J , Vanderleeden E , Barton NJ , Redick SD , Dawes P , Murray LF , Olson MN , Tran K , Chigas SM , Orszulak AR , Church GM , Readhead B , Oh HS , Harlan DM , Knipe DM , Wang JP , Chan Y , Lim ET
Published On :2024 Nov 29
Journal Article


Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Authors :Yu M , Zhang Q , Yuan K , Sazonovs A , Stevens C , Fachal L , International Inflammatory Bowel Disease Genetics Consortium , Anderson CA , Daly MJ , Huang H
Published On :2024 Dec 5
Journal Article


Analysis of variants induced by combined ex vivo irradiation and in vivo tumorigenesis suggests a role for the ZNF831 p.R1393Q mutation in cutaneous melanoma development.

Authors :Usoltsev D , Njauw CN , Ji Z , Kumar R , Sergushichev A , Zhang S , Shlyakhto E , Daly MJ , Artomov M , Tsao H
Published On :2024 Dec 13
Journal Article


Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Authors :Weisburd B , Sharma R , Pata V , Reimand T , Ganesh VS , Austin-Tse C , Osei-Owusu I , O'Heir E , O'Leary M , Pais L , Stafki SA , Daugherty AL , Folland C , Perić S , Fahmy N , Udd B , Horakova M , Łusakowska A , Manoj R , Nalini A , Karcagi V , Polavarapu K , Lochmüller H , Horvath R , Bönnemann CG , Donkervoort S , Haliloğlu G , Herguner O , Kang PB , Ravenscroft G , Laing N , Scott HS , Töpf A , Straub V , Pajusalu S , Õunap K , Tiao G , Rehm HL , O'Donnell-Luria A
Published On :2024 Dec 9
Journal Article


Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing.

Authors :Li K , Quiat D , She F , Liu Y , He R , Haghighi A , Liu F , Zhang R , DePalma SR , Yang Y , Wang W , Seidman CE , Zhang P , Seidman JG
Published On :2024
Journal Article


Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Authors :Kerman BJ , Zawatsky CBL , Fieg E , Frank NY , Donnelly RS , Green RC , Kennedy JC , Lakdawala N , Licurse AM , Perez EF , Preys CL , Krier JB , Rana HQ , Zettler B , Vassy JL
Published On :2024
Journal Article


Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes.

Authors :Agaoglu NB , Bychkovsky BL , Horton C , Lo MT , Polfus L , Carraway C , Hemyari P , Young C , Richardson ME , Scheib R , Garber JE , Rana HQ
Published On :2024
Journal Article