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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Authors :Nascimento A , Bruels CC , Donkervoort S , Foley AR , Codina A , Milisenda JC , Estrella EA , Li C , Pijuan J , Draper I , Hu Y , Stafki SA , Pais LS , Ganesh VS , O'Donnell-Luria A , Syeda SB , Carrera-García L , Expósito-Escudero J , Yubero D , Martorell L , Pinal-Fernandez I , Lidov HGW , Mammen AL , Grau-Junyent JM , Ortez C , Palau F , Ghosh PS , Darras BT , Jou C , Kunkel LM , Hoenicka J , Bönnemann CG , Kang PB , Natera-de Benito D
Published On :2023 Apr
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

Authors :Folkerts EK , Pelletier RC , Chung DC , Goldstein SA , Micalizzi DS , Shannon KM , Sweetser DA , Wong EK , Rehm HL , Hull LE
Published On :2023 Feb 10
Preprint Journal Article


Mechanism of tetraborate and silicate ions on the growth kinetics of microarc oxidation coating on a Ti6Al4V alloy.

Authors :Zhai D , Qiu T , Shen J , Feng K
Published On :2023 Feb 6
Journal Article


Novel Uracil-Functionalized Poly(ionic liquid) Hydrogel: Highly Stretchable and Sensitive as a Direct Wearable Ionic Skin for Human Motion Detection.

Authors :Fu D , Huang G , Xie Y , Zheng M , Feng J , Kan K , Shen J
Published On :2023 Mar 1
Journal Article


Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.

Authors :Karczewski KJ , Solomonson M , Chao KR , Goodrich JK , Tiao G , Lu W , Riley-Gillis BM , Tsai EA , Kim HI , Zheng X , Rahimov F , Esmaeeli S , Grundstad AJ , Reppell M , Waring J , Jacob H , Sexton D , Bronson PG , Chen X , Hu X , Goldstein JI , King D , Vittal C , Poterba T , Palmer DS , Churchhouse C , Howrigan DP , Zhou W , Watts NA , Nguyen K , Nguyen H , Mason C , Farnham C , Tolonen C , Gauthier LD , Gupta N , MacArthur DG , Rehm HL , Seed C , Philippakis AA , Daly MJ , Davis JW , Runz H , Miller MR , Neale BM
Published On :2022 Sep 14
Journal Article


A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Authors :Seaby EG , Thomas NS , Hunt D , Baralle D , Rehm HL , O'Donnell-Luria A , Ennis S
Published On :2023 Feb 1
Preprint Journal Article


Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.

Authors :Liu A , Genovese G , Zhao Y , Pirinen M , Zekavat MM , Kentistou K , Yang Z , Yu K , Vlasschaert C , Liu X , Brown DW , Hudjashov G , Gorman B , Dennis J , Zhou W , Momozawa Y , Pyarajan S , Tuzov V , Pajuste FD , Aavikko M , Sipilä TP , Ghazal A , Huang WY , Freedman N , Song L , Gardner EJ , Sankaran VG , Palotie A , Ollila HM , Tukiainen T , Chanock SJ , Mägi R , Natarajan P , Daly MJ , Bick A , McCarroll SA , Terao C , Loh PR , Ganna A , Perry JRB , Machiela MJ
Published On :2023 Jan 31
Preprint Journal Article


A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Authors :Jangam S , Briere LC , Jay K , Andrews JC , Walker MA , Rodan LH , High FA , Undiagnosed Diseases Network , Yamamoto S , Sweetser DA , Wangler M
Published On :2023 Feb 3
Preprint Journal Article


The female protective effect against autism spectrum disorder.

Authors :Wigdor EM , Weiner DJ , Grove J , Fu JM , Thompson WK , Carey CE , Baya N , van der Merwe C , Walters RK , Satterstrom FK , Palmer DS , Rosengren A , Bybjerg-Grauholm J , iPSYCH Consortium , Hougaard DM , Mortensen PB , Daly MJ , Talkowski ME , Sanders SJ , Bishop SL , Børglum AD , Robinson EB
Published On :2022 Jun 8
Journal Article


Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.

Authors :Tsuo K , Zhou W , Wang Y , Kanai M , Namba S , Gupta R , Majara L , Nkambule LL , Morisaki T , Okada Y , Neale BM , Global Biobank Meta-analysis Initiative , Daly MJ , Martin AR
Published On :2022 Dec 14
Journal Article


Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics.

Authors :Partanen JJ , Häppölä P , Zhou W , Lehisto AA , Ainola M , Sutinen E , Allen RJ , Stockwell AD , Leavy OC , Oldham JM , Guillen-Guio B , Cox NJ , Hirbo JB , Schwartz DA , Fingerlin TE , Flores C , Noth I , Yaspan BL , Jenkins RG , Wain LV , Ripatti S , Pirinen M , International IPF Genetics Consortium , Global Biobank Meta-Analysis Initiative (GBMI) , Laitinen T , Kaarteenaho R , Myllärniemi M , Daly MJ , Koskela JT
Published On :2022 Oct 12
Journal Article


Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Authors :Zhou W , Kanai M , Wu KH , Rasheed H , Tsuo K , Hirbo JB , Wang Y , Bhattacharya A , Zhao H , Namba S , Surakka I , Wolford BN , Lo Faro V , Lopera-Maya EA , Läll K , Favé MJ , Partanen JJ , Chapman SB , Karjalainen J , Kurki M , Maasha M , Brumpton BM , Chavan S , Chen TT , Daya M , Ding Y , Feng YA , Guare LA , Gignoux CR , Graham SE , Hornsby WE , Ingold N , Ismail SI , Johnson R , Laisk T , Lin K , Lv J , Millwood IY , Moreno-Grau S , Nam K , Palta P , Pandit A , Preuss MH , Saad C , Setia-Verma S , Thorsteinsdottir U , Uzunovic J , Verma A , Zawistowski M , Zhong X , Afifi N , Al-Dabhani KM , Al Thani A , Bradford Y , Campbell A , Crooks K , de Bock GH , Damrauer SM , Douville NJ , Finer S , Fritsche LG , Fthenou E , Gonzalez-Arroyo G , Griffiths CJ , Guo Y , Hunt KA , Ioannidis A , Jansonius NM , Konuma T , Lee MTM , Lopez-Pineda A , Matsuda Y , Marioni RE , Moatamed B , Nava-Aguilar MA , Numakura K , Patil S , Rafaels N , Richmond A , Rojas-Muñoz A , Shortt JA , Straub P , Tao R , Vanderwerff B , Vernekar M , Veturi Y , Barnes KC , Boezen M , Chen Z , Chen CY , Cho J , Smith GD , Finucane HK , Franke L , Gamazon ER , Ganna A , Gaunt TR , Ge T , Huang H , Huffman J , Katsanis N , Koskela JT , Lajonchere C , Law MH , Li L , Lindgren CM , Loos RJF , MacGregor S , Matsuda K , Olsen CM , Porteous DJ , Shavit JA , Snieder H , Takano T , Trembath RC , Vonk JM , Whiteman DC , Wicks SJ , Wijmenga C , Wright J , Zheng J , Zhou X , Awadalla P , Boehnke M , Bustamante CD , Cox NJ , Fatumo S , Geschwind DH , Hayward C , Hveem K , Kenny EE , Lee S , Lin YF , Mbarek H , Mägi R , Martin HC , Medland SE , Okada Y , Palotie AV , Pasaniuc B , Rader DJ , Ritchie MD , Sanna S , Smoller JW , Stefansson K , van Heel DA , Walters RG , Zöllner S , Biobank of the Americas , Biobank Japan Project , BioMe , BioVU , CanPath - Ontario Health Study , China Kadoorie Biobank Collaborative Group , Colorado Center for Personalized Medicine , deCODE Genetics , Estonian Biobank , FinnGen , Generation Scotland , Genes & Health Research Team , LifeLines , Mass General Brigham Biobank , Michigan Genomics Initiative , National Biobank of Korea , Penn Medicine BioBank , Qatar Biobank , QSkin Sun and Health Study , Taiwan Biobank , HUNT Study , UCLA ATLAS Community Health Initiative , Uganda Genome Resource , UK Biobank , Martin AR , Willer CJ , Daly MJ , Neale BM
Published On :2022 Oct 12
Journal Article


Revealing the Corrosion Resistance of 316 L Stainless Steel by an In Situ Grown Nano Oxide Film.

Authors :Ren Y , Li Y , Shen J , Wu S , Liu L , Zhou G
Published On :2023 Jan 31
Journal Article


Association between White Matter Hyperintensities Burden and Cognitive Function in Adult Asymptomatic Moyamoya Disease.

Authors :Shen J , Xu Z , Liu Z , Duan Y , Wei W , Chang J
Published On :2023 Feb 1
Journal Article


Unlocking the magic in mycelium: Using synthetic biology to optimize filamentous fungi for biomanufacturing and sustainability.

Authors :Jo C , Zhang J , Tam JM , Church GM , Khalil AS , Segrè D , Tang TC
Published On :2023 Apr
Journal Article