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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Authors :Herkert JC , Verhagen JMA , Yotti R , Haghighi A , Phelan DG , James PA , Brown NJ , Stutterd C , Macciocca I , Leong K , Bulthuis MLC , van Bever Y , van Slegtenhorst MA , Boven LG , Roberts AE , Agarwal R , Seidman J , Lakdawala NK , Fernández-Avilés F , Burke MA , Pierpont ME , Braunlin E , Ḉağlayan AO , Barge-Schaapveld DQCM , Birnie E , van Osch-Gevers L , van Langen IM , Jongbloed JDH , Lockhart PJ , Amor DJ , Seidman CE , van de Laar IMBH
Published On :2020 Jul
Journal Article


Cytoskeletal Organization and Cell Polarity in the Pathogenesis of Crohn's Disease.

Authors :Guo C , Shen J
Published On :2021 Apr
Journal Article Review


Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.

Authors :Chun S , Imakaev M , Hui D , Patsopoulos NA , Neale BM , Kathiresan S , Stitziel NO , Sunyaev SR
Published On :2020 Jul 2
Journal Article


The mevalonate pathway is a crucial regulator of tendon cell specification.

Authors :Chen JW , Niu X , King MJ , Noedl MT , Tabin CJ , Galloway JL
Published On :2020 Jun 24
Journal Article


Improved bacterial recombineering by parallelized protein discovery.

Authors :Wannier TM , Nyerges A , Kuchwara HM , Czikkely M , Balogh D , Filsinger GT , Borders NC , Gregg CJ , Lajoie MJ , Rios X , Pál C , Church GM
Published On :2020 Jun 16
Journal Article


miR-378a-3p inhibits ischemia/reperfusion-induced apoptosis in H9C2 cardiomyocytes by targeting TRIM55 via the DUSP1-JNK1/2 signaling pathway.

Authors :Tan J , Shen J , Zhu H , Gong Y , Zhu H , Li J , Lin S , Wu G , Sun T
Published On :2020 May 28
Journal Article


The effect of LRRK2 loss-of-function variants in humans.

Authors :Whiffin N , Armean IM , Kleinman A , Marshall JL , Minikel EV , Goodrich JK , Quaife NM , Cole JB , Wang Q , Karczewski KJ , Cummings BB , Francioli L , Laricchia K , Guan A , Alipanahi B , Morrison P , Baptista MAS , Merchant KM , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Ware JS , Havulinna AS , Iliadou B , Lee JJ , Nadkarni GN , Whiteman C , 23andMe Research Team , Daly M , Esko T , Hultman C , Loos RJF , Milani L , Palotie A , Pato C , Pato M , Saleheen D , Sullivan PF , Alföldi J , Cannon P , MacArthur DG
Published On :2020 Jun
Journal Article


Transcript expression-aware annotation improves rare variant interpretation.

Authors :Cummings BB , Karczewski KJ , Kosmicki JA , Seaby EG , Watts NA , Singer-Berk M , Mudge JM , Karjalainen J , Satterstrom FK , O'Donnell-Luria AH , Poterba T , Seed C , Solomonson M , Alföldi J , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Daly MJ , MacArthur DG
Published On :2020 May
Journal Article


The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors :Karczewski KJ , Francioli LC , Tiao G , Cummings BB , Alföldi J , Wang Q , Collins RL , Laricchia KM , Ganna A , Birnbaum DP , Gauthier LD , Brand H , Solomonson M , Watts NA , Rhodes D , Singer-Berk M , England EM , Seaby EG , Kosmicki JA , Walters RK , Tashman K , Farjoun Y , Banks E , Poterba T , Wang A , Seed C , Whiffin N , Chong JX , Samocha KE , Pierce-Hoffman E , Zappala Z , O'Donnell-Luria AH , Minikel EV , Weisburd B , Lek M , Ware JS , Vittal C , Armean IM , Bergelson L , Cibulskis K , Connolly KM , Covarrubias M , Donnelly S , Ferriera S , Gabriel S , Gentry J , Gupta N , Jeandet T , Kaplan D , Llanwarne C , Munshi R , Novod S , Petrillo N , Roazen D , Ruano-Rubio V , Saltzman A , Schleicher M , Soto J , Tibbetts K , Tolonen C , Wade G , Talkowski ME , Genome Aggregation Database Consortium , Neale BM , Daly MJ , MacArthur DG
Published On :2020 May
Journal Article


Evaluating drug targets through human loss-of-function genetic variation.

Authors :Minikel EV , Karczewski KJ , Martin HC , Cummings BB , Whiffin N , Rhodes D , Alföldi J , Trembath RC , van Heel DA , Daly MJ , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Schreiber SL , MacArthur DG
Published On :2020 May
Journal Article


A structural variation reference for medical and population genetics.

Authors :Collins RL , Brand H , Karczewski KJ , Zhao X , Alföldi J , Francioli LC , Khera AV , Lowther C , Gauthier LD , Wang H , Watts NA , Solomonson M , O'Donnell-Luria A , Baumann A , Munshi R , Walker M , Whelan CW , Huang Y , Brookings T , Sharpe T , Stone MR , Valkanas E , Fu J , Tiao G , Laricchia KM , Ruano-Rubio V , Stevens C , Gupta N , Cusick C , Margolin L , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Taylor KD , Lin HJ , Rich SS , Post WS , Chen YI , Rotter JI , Nusbaum C , Philippakis A , Lander E , Gabriel S , Neale BM , Kathiresan S , Daly MJ , Banks E , MacArthur DG , Talkowski ME
Published On :2020 May
Journal Article


Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Authors :Whiffin N , Karczewski KJ , Zhang X , Chothani S , Smith MJ , Evans DG , Roberts AM , Quaife NM , Schafer S , Rackham O , Alföldi J , O'Donnell-Luria AH , Francioli LC , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Cook SA , Barton PJR , MacArthur DG , Ware JS
Published On :2020 May 27
Journal Article


Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Authors :Wang Q , Pierce-Hoffman E , Cummings BB , Alföldi J , Francioli LC , Gauthier LD , Hill AJ , O'Donnell-Luria AH , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Karczewski KJ , MacArthur DG
Published On :2020 May 27
Journal Article


Systematic evaluation of machine learning methods for identifying human-pathogen protein-protein interactions.

Authors :Chen H , Li F , Wang L , Jin Y , Chi CH , Kurgan L , Song J , Shen J
Published On :2021 May 20
Journal Article