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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Authors :Weng PL , Majmundar AJ , Khan K , Lim TY , Shril S , Jin G , Musgrove J , Wang M , Ahram DF , Aggarwal VS , Bier LE , Heinzen EL , Onuchic-Whitford AC , Mann N , Buerger F , Schneider R , Deutsch K , Kitzler TM , Klämbt V , Kolb A , Mao Y , Moufawad El Achkar C , Mitrotti A , Martino J , Beck BB , Altmüller J , Benz MR , Yano S , Mikati MA , Gunduz T , Cope H , Shashi V , Undiagnosed Diseases Network , Trachtman H , Bodria M , Caridi G , Pisani I , Fiaccadori E , AbuMaziad AS , Martinez-Agosto JA , Yadin O , Zuckerman J , Kim A , UCLA Clinical Genomics Center , John-Kroegel U , Tyndall AV , Parboosingh JS , Innes AM , Bierzynska A , Koziell AB , Muorah M , Saleem MA , Hoefele J , Riedhammer KM , Gharavi AG , Jobanputra V , Pierce-Hoffman E , Seaby EG , O'Donnell-Luria A , Rehm HL , Mane S , D'Agati VD , Pollak MR , Ghiggeri GM , Lifton RP , Goldstein DB , Davis EE , Hildebrandt F , Sanna-Cherchi S
Published On :2021 Feb 4
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Versatile Direct Writing of Aerogel-Based Sol-Gel Inks.

Authors :Yang J , Wang H , Zhou B , Shen J , Zhang Z , Du A
Published On :2021 Feb 16
Journal Article


Algorithms for the selection of fluorescent reporters.

Authors :Vaidyanathan P , Appleton E , Tran D , Vahid A , Church G , Densmore D
Published On :2021 Jan 26
Journal Article Research Support, U.S. Gov't, Non-P.H.S.


Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

Authors :McGraw CM , Mahida S , Jayakar P , Koh HY , Taylor A , Resnick T , Rodan L , Schwartz MA , Ejaz A , Sankaran VG , Berry G , Poduri A
Published On :2021 Mar
Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Journal Article


Polygenic adaptation of rosette growth in Arabidopsis thaliana.

Authors :Wieters B , Steige KA , He F , Koch EM , Ramos-Onsins SE , Gu H , Guo YL , Sunyaev S , de Meaux J
Published On :2021 Jan
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation.

Authors :Al Absi HS , Sacharow S , Al Zein N , Al Shamsi A , Al Teneiji A
Published On :2021 Mar
Case Reports Journal Article


Author Correction: 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 :2021 Feb
Published Erratum


Delivery of biomacromolecules for therapeutic genome editing.

Authors :Ping Y , Church GM
Published On :2021 Jan
Editorial Introductory Journal Article


Maintenance of Adaptive Dynamics and No Detectable Load in a Range-Edge Outcrossing Plant Population.

Authors :Takou M , Hämälä T , Koch EM , Steige KA , Dittberner H , Yant L , Genete M , Sunyaev S , Castric V , Vekemans X , Savolainen O , Meaux J
Published On :2021 May 4
Comparative Study Journal Article Research Support, Non-U.S. Gov't


A retrospective clinical analysis of pediatric paragonimiasis in a Chinese children's hospital from 2011 to 2019.

Authors :Qian M , Li F , Zhang Y , Qiao Z , Shi Y , Shen J
Published On :2021 Jan 21
Journal Article Research Support, Non-U.S. Gov't


Left Ventricular Outflow Tract Gradient Is Associated With Coronary Artery Obstruction in Children With Williams-Beuren Syndrome.

Authors :Tan AYJ , Quiat D , Ghelani SJ , Yuki K
Published On :2021 Dec
Journal Article


Ultrasonographic tissue perfusion analysis at implant and palatal donor sites following soft tissue augmentation: A clinical pilot study.

Authors :Tavelli L , Barootchi S , Majzoub J , Chan HL , Giannobile WV , Wang HL , Kripfgans OD
Published On :2021 Apr
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Late gestation predictors of a postnatal biventricular circulation after fetal aortic valvuloplasty.

Authors :Beattie MJ , Friedman KG , Sleeper LA , Lu M , Drogosz M , Callahan R , Marshall AC , Prosnitz AR , Lafranchi T , Benson CB , Wilkins-Haug LE , Tworetzky W
Published On :2021 Mar
Journal Article


Characterizing the portability of phage-encoded homologous recombination proteins.

Authors :Filsinger GT , Wannier TM , Pedersen FB , Lutz ID , Zhang J , Stork DA , Debnath A , Gozzi K , Kuchwara H , Volf V , Wang S , Rios X , Gregg CJ , Lajoie MJ , Shipman SL , Aach J , Laub MT , Church GM
Published On :2021 Apr
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.


Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.

Authors :Atkinson EG , Maihofer AX , Kanai M , Martin AR , Karczewski KJ , Santoro ML , Ulirsch JC , Kamatani Y , Okada Y , Finucane HK , Koenen KC , Nievergelt CM , Daly MJ , Neale BM
Published On :2021 Feb
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't