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Phenome-wide association studies across large population cohorts support drug target validation.

Authors :Diogo D , Tian C , Franklin CS , Alanne-Kinnunen M , March M , Spencer CCA , Vangjeli C , Weale ME , Mattsson H , Kilpeläinen E , Sleiman PMA , Reilly DF , McElwee J , Maranville JC , Chatterjee AK , Bhandari A , Nguyen KH , Estrada K , Reeve MP , Hutz J , Bing N , John S , MacArthur DG , Salomaa V , Ripatti S , Hakonarson H , Daly MJ , Palotie A , Hinds DA , Donnelly P , Fox CS , Day-Williams AG , Plenge RM , Runz H
Published On :2018 Oct 16
Journal Article Meta-Analysis Research Support, Non-U.S. Gov't


Cationic nanoparticle as an inhibitor of cell-free DNA-induced inflammation.

Authors :Liang H , Peng B , Dong C , Liu L , Mao J , Wei S , Wang X , Xu H , Shen J , Mao HQ , Gao X , Leong KW , Chen Y
Published On :2018 Oct 16
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors :Oza AM , DiStefano MT , Hemphill SE , Cushman BJ , Grant AR , Siegert RK , Shen J , Chapin A , Boczek NJ , Schimmenti LA , Murry JB , Hasadsri L , Nara K , Kenna M , Booth KT , Azaiez H , Griffith A , Avraham KB , Kremer H , Rehm HL , Amr SS , Abou Tayoun AN , ClinGen Hearing Loss Clinical Domain Working Group
Published On :2018 Nov
Journal Article Research Support, N.I.H., Extramural


Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Authors :Splinter K , Adams DR , Bacino CA , Bellen HJ , Bernstein JA , Cheatle-Jarvela AM , Eng CM , Esteves C , Gahl WA , Hamid R , Jacob HJ , Kikani B , Koeller DM , Kohane IS , Lee BH , Loscalzo J , Luo X , McCray AT , Metz TO , Mulvihill JJ , Nelson SF , Palmer CGS , Phillips JA 3rd , Pick L , Postlethwait JH , Reuter C , Shashi V , Sweetser DA , Tifft CJ , Walley NM , Wangler MF , Westerfield M , Wheeler MT , Wise AL , Worthey EA , Yamamoto S , Ashley EA , Undiagnosed Diseases Network
Published On :2018 Nov 29
Journal Article Research Support, N.I.H., Extramural


Characterizing posttranslational modifications in prokaryotic metabolism using a multiscale workflow.

Authors :Brunk E , Chang RL , Xia J , Hefzi H , Yurkovich JT , Kim D , Buckmiller E , Wang HH , Cho BK , Yang C , Palsson BO , Church GM , Lewis NE
Published On :2018 Oct 23
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Authors :Gazal S , Loh PR , Finucane HK , Ganna A , Schoech A , Sunyaev S , Price AL
Published On :2018 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Authors :Metz KA , Teng X , Coppens I , Lamb HM , Wagner BE , Rosenfeld JA , Chen X , Zhang Y , Kim HJ , Meadow ME , Wang TS , Haberlandt ED , Anderson GW , Leshinsky-Silver E , Bi W , Markello TC , Pratt M , Makhseed N , Garnica A , Danylchuk NR , Burrow TA , Jayakar P , McKnight D , Agadi S , Gbedawo H , Stanley C , Alber M , Prehl I , Peariso K , Ong MT , Mordekar SR , Parker MJ , Crooks D , Agrawal PB , Berry GT , Loddenkemper T , Yang Y , Maegawa GHB , Aouacheria A , Markle JG , Wohlschlegel JA , Hartman AL , Hardwick JM
Published On :2018 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors :Olson HE , Jean-Marçais N , Yang E , Heron D , Tatton-Brown K , van der Zwaag PA , Bijlsma EK , Krock BL , Backer E , Kamsteeg EJ , Sinnema M , Reijnders MRF , Bearden D , Begtrup A , Telegrafi A , Lunsing RJ , Burglen L , Lesca G , Cho MT , Smith LA , Sheidley BR , El Achkar CM , Pearl PL , Poduri A , Skraban CM , Tarpinian J , Nesbitt AI , Fransen van de Putte DE , Ruivenkamp CAL , Rump P , Chatron N , Sabatier I , De Bellescize J , Guibaud L , Sweetser DA , Waxler JL , Wierenga KJ , DDD Study , Donadieu J , Narayanan V , Ramsey KM , C4RCD Research Group , Nava C , Rivière JB , Vitobello A , Mau-Them FT , Philippe C , Bruel AL , Duffourd Y , Thomas L , Lelieveld SH , Schuurs-Hoeijmakers J , Brunner HG , Keren B , Thevenon J , Faivre L , Thomas G , Thauvin-Robinet C
Published On :2018 Oct 4
Journal Article Published Erratum


Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing.

Authors :CRyPTIC Consortium and the 100,000 Genomes Project , Allix-Béguec C , Arandjelovic I , Bi L , Beckert P , Bonnet M , Bradley P , Cabibbe AM , Cancino-Muñoz I , Caulfield MJ , Chaiprasert A , Cirillo DM , Clifton DA , Comas I , Crook DW , De Filippo MR , de Neeling H , Diel R , Drobniewski FA , Faksri K , Farhat MR , Fleming J , Fowler P , Fowler TA , Gao Q , Gardy J , Gascoyne-Binzi D , Gibertoni-Cruz AL , Gil-Brusola A , Golubchik T , Gonzalo X , Grandjean L , He G , Guthrie JL , Hoosdally S , Hunt M , Iqbal Z , Ismail N , Johnston J , Khanzada FM , Khor CC , Kohl TA , Kong C , Lipworth S , Liu Q , Maphalala G , Martinez E , Mathys V , Merker M , Miotto P , Mistry N , Moore DAJ , Murray M , Niemann S , Omar SV , Ong RT , Peto TEA , Posey JE , Prammananan T , Pym A , Rodrigues C , Rodrigues M , Rodwell T , Rossolini GM , Sánchez Padilla E , Schito M , Shen X , Shendure J , Sintchenko V , Sloutsky A , Smith EG , Snyder M , Soetaert K , Starks AM , Supply P , Suriyapol P , Tahseen S , Tang P , Teo YY , Thuong TNT , Thwaites G , Tortoli E , van Soolingen D , Walker AS , Walker TM , Wilcox M , Wilson DJ , Wyllie D , Yang Y , Zhang H , Zhao Y , Zhu B
Published On :2018 Oct 11
Journal Article Multicenter Study Research Support, Non-U.S. Gov't


Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Authors :Alver M , Palover M , Saar A , Läll K , Zekavat SM , Tõnisson N , Leitsalu L , Reigo A , Nikopensius T , Ainla T , Kals M , Mägi R , Gabriel SB , Eha J , Lander ES , Irs A , Philippakis A , Marandi T , Natarajan P , Metspalu A , Kathiresan S , Esko T
Published On :2019 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Identity and novelty in the avian syrinx.

Authors :Kingsley EP , Eliason CM , Riede T , Li Z , Hiscock TW , Farnsworth M , Thomson SL , Goller F , Tabin CJ , Clarke JA
Published On :2018 Oct 9
Journal Article Research Support, Non-U.S. Gov't Review


Somatic Mutation in Pediatric Neurological Diseases.

Authors :Rodin RE , Walsh CA
Published On :2018 Oct
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review


Global Unmet Needs in Cardiac Surgery.

Authors :Zilla P , Yacoub M , Zühlke L , Beyersdorf F , Sliwa K , Khubulava G , Bouzid A , Mocumbi AO , Velayoudam D , Shetty D , Ofoegbu C , Geldenhuys A , Brink J , Scherman J , du Toit H , Hosseini S , Zhang H , Luo XJ , Wang W , Mejia J , Kofidis T , Higgins RSD , Pomar J , Bolman RM , Mayosi BM , Madansein R , Bavaria J , Yanes-Quintana AA , Kumar AS , Adeoye O , Chauke RF , Williams DF
Published On :2018 Dec
Journal Article Research Support, Non-U.S. Gov't Review


The critical needs and challenges for genetic architecture studies in Africa.

Authors :Martin AR , Teferra S , Möller M , Hoal EG , Daly MJ
Published On :2018 Dec
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review


matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Authors :Arachchi H , Wojcik MH , Weisburd B , Jacobsen JOB , Valkanas E , Baxter S , Byrne AB , O'Donnell-Luria AH , Haendel M , Smedley D , MacArthur DG , Philippakis AA , Rehm HL
Published On :2018 Dec
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't