Share

Unsupervised removal of systematic background noise from droplet-based single-cell experiments using CellBender.

Authors :Fleming SJ , Chaffin MD , Arduini A , Akkad AD , Banks E , Marioni JC , Philippakis AA , Ellinor PT , Babadi M
Published On :2023 Sep
Journal Article


An unusual case of linear IgA disease affecting only the oral gingiva: a case report.

Authors :He J , Shen J , Guo W
Published On :2023 Aug 5
Journal Article


HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Authors :Niggl E , Bouman A , Briere LC , Hoogenboezem RM , Wallaard I , Park J , Admard J , Wilke M , Harris-Mostert EDRO , Elgersma M , Bain J , Balasubramanian M , Banka S , Benke PJ , Bertrand M , Blesson AE , Clayton-Smith J , Ellingford JM , Gillentine MA , Goodloe DH , Haack TB , Jain M , Krantz I , Luu SM , McPheron M , Muss CL , Raible SE , Robin NH , Spiller M , Starling S , Sweetser DA , Thiffault I , Vetrini F , Witt D , Woods E , Zhou D , Genomics England Research Consortium , Undiagnosed Diseases Network , Elgersma Y , van Esbroeck ACM
Published On :2023 Aug 3
Meta-Analysis Journal Article


Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Authors :Wojcik MH , Reuter CM , Marwaha S , Mahmoud M , Duyzend MH , Barseghyan H , Yuan B , Boone PM , Groopman EE , Délot EC , Jain D , Sanchis-Juan A , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium , Starita LM , Talkowski M , Montgomery SB , Bamshad MJ , Chong JX , Wheeler MT , Berger SI , O'Donnell-Luria A , Sedlazeck FJ , Miller DE
Published On :2023 Aug 3
Journal Article Review


Advancing Understanding of Inequities in Rare Disease Genomics.

Authors :Serrano JG , O'Leary M , VanNoy GE , Mangilog BE , Holm IA , Fraiman YS , Rehm HL , O'Donnell-Luria A , Wojcik MH
Published On :2023 Aug
Journal Article


Miniature Integrated 2.4 GHz Rectennas Using Novel Tunnel Diodes.

Authors :Walsh C , Muttlak SG , Sadeghi M , Missous M
Published On :2023 Jul 14
Journal Article


Mechanism of aconitine mediated neuronal apoptosis induced by mitochondrial calcium overload caused by MCU.

Authors :Jiang C , Shen J , Wang C , Huang Y , Wang L , Yang Y , Hu W , Li P , Wu H
Published On :2023 Aug 1
Journal Article


Selenite affected photosynthesis of Oryza sativa L. exposed to antimonite: Electron transfer, carbon fixation, pigment synthesis via a combined analysis of physiology and transcriptome.

Authors :Zhao P , Wu Z , Zheng Y , Shen J , Zhu Y , Chen Q , Wang B , Yang F , Ding Y , Liu H , Wang F , Rensing C , Feng R
Published On :2023 Aug
Journal Article


Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Authors :Pan X , Alvarez AN , Ma M , Lu S , Crawford MW , Briere LC , Kanca O , Yamamoto S , Sweetser DA , Wilson JL , Napier RJ , Pruneda JN , Bellen HJ
Published On :2023 Oct 2
Journal Article



Factors Associated with Severe Adenovirus Pneumonia in Children: A Retrospective Study from Guangzhou, China (2017-2019).

Authors :Hong Y , Wang Q , Song Y , Liu G , Shen J
Published On :2023 Jul 27
Journal Article


Erratum for: 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 , Li Z
Published On :2023 Jul
Published Erratum


Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Authors :Akula SK , Chen AY , Neil JE , Shao DD , Mo A , Hylton NK , DiTroia S , Ganesh VS , Smith RS , O'Kane K , Yeh RC , Marciano JH , Kirkham S , Kenny CJ , Song JHT , Al Saffar M , Millan F , Harris DJ , Murphy AV , Klemp KC , Braddock SR , Brand H , Wong I , Talkowski ME , O'Donnell-Luria A , Lai A , Hill RS , Mochida GH , Doan RN , Barkovich AJ , Yang E , Amrom D , Andermann E , Poduri A , Walsh CA , Polymicrogyria Genetics Research Network
Published On :2023 Sep 1
Journal Article


Fertility restoration in mice with chemotherapy induced ovarian failure using differentiated iPSCs.

Authors :Elias KM , Ng NW , Dam KU , Milne A , Disler ER , Gockley A , Holub N , Seshan ML , Church GM , Ginsburg ES , Anchan RM
Published On :2023 Aug
Journal Article


Effect of indwelling depth of peripheral intravenous catheters on thrombophlebitis.

Authors :He C , Shi Y , Jia X , Wu X , Xing Q , Liang L , Ju M , Di X , Xia Y , Chen X , Shen J
Published On :2023 Jul 21
Randomized Controlled Trial Journal Article