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Clinical implications of molecular drug resistance testing for Mycobacterium tuberculosis: a 2023 TBnet/RESIST-TB consensus statement.

Authors :Domínguez J , Boeree MJ , Cambau E , Chesov D , Conradie F , Cox V , Dheda K , Dudnyk A , Farhat MR , Gagneux S , Grobusch MP , Gröschel MI , Guglielmetti L , Kontsevaya I , Lange B , van Leth F , Lienhardt C , Mandalakas AM , Maurer FP , Merker M , Miotto P , Molina-Moya B , Morel F , Niemann S , Veziris N , Whitelaw A , Horsburgh CR Jr , Lange C , TBnet and RESIST-TB networks
Published On :2023 Apr
Journal Article Review Research Support, Non-U.S. Gov't Consensus Statement


Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Authors :Chen S , Abou-Khalil BW , Afawi Z , Ali QZ , Amadori E , Anderson A , Anderson J , Andrade DM , Annesi G , Arslan M , Auce P , Bahlo M , Baker MD , Balagura G , Balestrini S , Banks E , Barba C , Barboza K , Bartolomei F , Bass N , Baum LW , Baumgartner TH , Baykan B , Bebek N , Becker F , Bennett CA , Beydoun A , Bianchini C , Bisulli F , Blackwood D , Blatt I , Borggräfe I , Bosselmann C , Braatz V , Brand H , Brockmann K , Buono RJ , Busch RM , Caglayan SH , Canafoglia L , Canavati C , Castellotti B , Cavalleri GL , Cerrato F , Chassoux F , Cherian C , Cherny SS , Cheung CL , Chou IJ , Chung SK , Churchhouse C , Ciullo V , Clark PO , Cole AJ , Cosico M , Cossette P , Cotsapas C , Cusick C , Daly MJ , Davis LK , Jonghe P , Delanty N , Dennig D , Depondt C , Derambure P , Devinsky O , Di Vito L , Dickerson F , Dlugos DJ , Doccini V , Doherty CP , El-Naggar H , Ellis CA , Epstein L , Evans M , Faucon A , Feng YA , Ferguson L , Ferraro TN , Da Silva IF , Ferri L , Feucht M , Fields MC , Fitzgerald M , Fonferko-Shadrach B , Fortunato F , Franceschetti S , French JA , Freri E , Fu JM , Gabriel S , Gagliardi M , Gambardella A , Gauthier L , Giangregorio T , Gili T , Glauser TA , Goldberg E , Goldman A , Goldstein DB , Granata T , Grant R , Greenberg DA , Guerrini R , Gundogdu-Eken A , Gupta N , Haas K , Hakonarson H , Haryanyan G , Häusler M , Hegde M , Heinzen EL , Helbig I , Hengsbach C , Heyne H , Hirose S , Hirsch E , Ho CJ , Hoeper O , Howrigan DP , Hucks D , Hung PC , Iacomino M , Inoue Y , Inuzuka LM , Ishii A , Jehi L , Johnson MR , Johnstone M , Kälviäinen R , Kanaan M , Kara B , Kariuki SM , Kegele J , Kesim Y , Khoueiry-Zgheib N , Khoury J , King C , Klein KM , Kluger G , Knake S , Kok F , Korczyn AD , Korinthenberg R , Koupparis A , Kousiappa I , Krause R , Krenn M , Krestel H , Krey I , Kunz WS , Kurlemann G , Kuzniecky RI , Kwan P , La Vega-Talbott M , Labate A , Lacey A , Lal D , Laššuthová P , Lauxmann S , Lawthom C , Leech SL , Lehesjoki AE , Lemke JR , Lerche H , Lesca G , Leu C , Lewin N , Lewis-Smith D , Li GH , Liao C , Licchetta L , Lin CH , Lin KL , Linnankivi T , Lo W , Lowenstein DH , Lowther C , Lubbers L , Lui CHT , Macedo-Souza LI , Madeleyn R , Madia F , Magri S , Maillard L , Marcuse L , Marques P , Marson AG , Matthews AG , May P , Mayer T , McArdle W , McCarroll SM , McGoldrick P , McGraw CM , McIntosh A , McQuillan A , Meador KJ , Mei D , Michel V , Millichap JJ , Minardi R , Montomoli M , Mostacci B , Muccioli L , Muhle H , Müller-Schlüter K , Najm IM , Nasreddine W , Neaves S , Neubauer BA , Newton CRJC , Noebels JL , Northstone K , Novod S , O'Brien TJ , Owusu-Agyei S , Özkara Ç , Palotie A , Papacostas SS , Parrini E , Pato C , Pato M , Pendziwiat M , Pennell PB , Petrovski S , Pickrell WO , Pinsky R , Pinto D , Pippucci T , Piras F , Piras F , Poduri A , Pondrelli F , Posthuma D , Powell RHW , Privitera M , Rademacher A , Ragona F , Ramirez-Hamouz B , Rau S , Raynes HR , Rees MI , Regan BM , Reif A , Reinthaler E , Rheims S , Ring SM , Riva A , Rojas E , Rosenow F , Ryvlin P , Saarela A , Sadleir LG , Salman B , Salmon A , Salpietro V , Sammarra I , Scala M , Schachter S , Schaller A , Schankin CJ , Scheffer IE , Schneider N , Schubert-Bast S , Schulze-Bonhage A , Scudieri P , Sedláčková L , Shain C , Sham PC , Shiedley BR , Siena SA , Sills GJ , Sisodiya SM , Smoller JW , Solomonson M , Spalletta G , Sparks KR , Sperling MR , Stamberger H , Steinhoff BJ , Stephani U , Štěrbová K , Stewart WC , Stipa C , Striano P , Strzelczyk A , Surges R , Suzuki T , Talarico M , Talkowski ME , Taneja RS , Tanteles GA , Timonen O , Timpson NJ , Tinuper P , Todaro M , Topaloglu P , Tsai MH , Tumiene B , Turkdogan D , Uğur-İşeri S , Utkus A , Vaidiswaran P , Valton L , van Baalen A , Vari MS , Vetro A , Vlčková M , von Brauchitsch S , von Spiczak S , Wagner RG , Watts N , Weber YG , Weckhuysen S , Widdess-Walsh P , Wiebe S , Wolf SM , Wolff M , Wolking S , Wong I , von Wrede R , Wu D , Yamakawa K , Yapıcı Z , Yis U , Yolken R , Yücesan E , Zagaglia S , Zahnert F , Zara F , Zimprich F , Zizovic M , Zsurka G , Neale BM , Berkovic SF
Published On :2024 Sep 20
Journal Article Preprint


Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.

Authors :Demontis D , Walters GB , Athanasiadis G , Walters R , Therrien K , Nielsen TT , Farajzadeh L , Voloudakis G , Bendl J , Zeng B , Zhang W , Grove J , Als TD , Duan J , Satterstrom FK , Bybjerg-Grauholm J , Bækved-Hansen M , Gudmundsson OO , Magnusson SH , Baldursson G , Davidsdottir K , Haraldsdottir GS , Agerbo E , Hoffman GE , Dalsgaard S , Martin J , Ribasés M , Boomsma DI , Soler Artigas M , Roth Mota N , Howrigan D , Medland SE , Zayats T , Rajagopal VM , ADHD Working Group of the Psychiatric Genomics Consortium , iPSYCH-Broad Consortium , Nordentoft M , Mors O , Hougaard DM , Mortensen PB , Daly MJ , Faraone SV , Stefansson H , Roussos P , Franke B , Werge T , Neale BM , Stefansson K , Børglum AD
Published On :2023 Apr
Published Erratum


Gender-Specific Differences in Chronic Subdural Hematoma.

Authors :Ge R , Shen J
Published On :2023 Mar-Apr 01
Journal Article


Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.

Authors :Bychkovsky BL , Lo MT , Yussuf A , Horton C , Hemyari P , LaDuca H , Garber JE , Scheib R , Rana HQ
Published On :2023 Jul
Journal Article


Effect of laser-assisted reconstructive surgical therapy of peri-implantitis on protein biomarkers and bacterial load.

Authors :Di Gianfilippo R , Wang CW , Xie Y , Kinney J , Sugai J , Giannobile WV , Wang HL
Published On :2023 Apr
Randomized Controlled Trial Journal Article


Discovery of Topological Magnetic Textures near Room Temperature in Quantum Magnet TbMn(6) Sn(6).

Authors :Li Z , Yin Q , Jiang Y , Zhu Z , Gao Y , Wang S , Shen J , Zhao T , Cai J , Lei H , Lin SZ , Zhang Y , Shen B
Published On :2023 May
Journal Article


Light and carbon: Synthetic biology toward new cyanobacteria-based living biomaterials.

Authors :Goodchild-Michelman IM , Church GM , Schubert MG , Tang TC
Published On :2023 Apr
Journal Article


Magnetic Field Dependence of Spectral Correlations between (31)P-Containing Metabolites in Brain.

Authors :Hong S , Shen J
Published On :2023 Jan 31
Journal Article


Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.

Authors :Kurki MI , Karjalainen J , Palta P , Sipilä TP , Kristiansson K , Donner KM , Reeve MP , Laivuori H , Aavikko M , Kaunisto MA , Loukola A , Lahtela E , Mattsson H , Laiho P , Della Briotta Parolo P , Lehisto AA , Kanai M , Mars N , Rämö J , Kiiskinen T , Heyne HO , Veerapen K , Rüeger S , Lemmelä S , Zhou W , Ruotsalainen S , Pärn K , Hiekkalinna T , Koskelainen S , Paajanen T , Llorens V , Gracia-Tabuenca J , Siirtola H , Reis K , Elnahas AG , Sun B , Foley CN , Aalto-Setälä K , Alasoo K , Arvas M , Auro K , Biswas S , Bizaki-Vallaskangas A , Carpen O , Chen CY , Dada OA , Ding Z , Ehm MG , Eklund K , Färkkilä M , Finucane H , Ganna A , Ghazal A , Graham RR , Green EM , Hakanen A , Hautalahti M , Hedman ÅK , Hiltunen M , Hinttala R , Hovatta I , Hu X , Huertas-Vazquez A , Huilaja L , Hunkapiller J , Jacob H , Jensen JN , Joensuu H , John S , Julkunen V , Jung M , Junttila J , Kaarniranta K , Kähönen M , Kajanne R , Kallio L , Kälviäinen R , Kaprio J , FinnGen , Kerimov N , Kettunen J , Kilpeläinen E , Kilpi T , Klinger K , Kosma VM , Kuopio T , Kurra V , Laisk T , Laukkanen J , Lawless N , Liu A , Longerich S , Mägi R , Mäkelä J , Mäkitie A , Malarstig A , Mannermaa A , Maranville J , Matakidou A , Meretoja T , Mozaffari SV , Niemi MEK , Niemi M , Niiranen T , O Donnell CJ , Obeidat ME , Okafo G , Ollila HM , Palomäki A , Palotie T , Partanen J , Paul DS , Pelkonen M , Pendergrass RK , Petrovski S , Pitkäranta A , Platt A , Pulford D , Punkka E , Pussinen P , Raghavan N , Rahimov F , Rajpal D , Renaud NA , Riley-Gillis B , Rodosthenous R , Saarentaus E , Salminen A , Salminen E , Salomaa V , Schleutker J , Serpi R , Shen HY , Siegel R , Silander K , Siltanen S , Soini S , Soininen H , Sul JH , Tachmazidou I , Tasanen K , Tienari P , Toppila-Salmi S , Tukiainen T , Tuomi T , Turunen JA , Ulirsch JC , Vaura F , Virolainen P , Waring J , Waterworth D , Yang R , Nelis M , Reigo A , Metspalu A , Milani L , Esko T , Fox C , Havulinna AS , Perola M , Ripatti S , Jalanko A , Laitinen T , Mäkelä TP , Plenge R , McCarthy M , Runz H , Daly MJ , Palotie A
Published On :2023 Mar
Published Erratum


Atypical Polycystic Kidney Disease as defined by Imaging.

Authors :Iliuta IA , Win AZ , Lanktree MB , Lee SH , Pourafkari M , Nasri F , Guiard E , Haghighi A , He N , Ingram A , Quist C , Hillier D , Khalili K , Pei Y
Published On :2023 Feb 20
Journal Article Research Support, Non-U.S. Gov't


Directed differentiation of human iPSCs to functional ovarian granulosa-like cells via transcription factor overexpression.

Authors :Pierson Smela MD , Kramme CC , Fortuna PRJ , Adams JL , Su R , Dong E , Kobayashi M , Brixi G , Kavirayuni VS , Tysinger E , Kohman RE , Shioda T , Chatterjee P , Church GM
Published On :2023 Feb 21
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.

Authors :Griffin EL , Nees SN , Morton SU , Wynn J , Patel N , Jobanputra V , Robinson S , Kochav SM , Tao A , Andrews C , Cross N , Geva J , Lanzilotta K , Ritter A , Taillie E , Thompson A , Meyer C , Akers R , King EC , Cnota JF , Kim RW , Porter GA Jr , Brueckner M , Seidman CE , Shen Y , Gelb BD , Goldmuntz E , Newburger JW , Roberts AE , Chung WK
Published On :2023 Apr
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


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