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Author Correction: 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 :2021 Feb
Published Erratum


Author Correction: 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 :2021 Feb
Published Erratum


Author Correction: 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 :2021 Feb
Published Erratum


Author Correction: 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 :2021 Feb
Published Erratum


Quantification of pancreatic iron overload and fat infiltration and their correlation with glucose disturbance in pediatric thalassemia major patients.

Authors :Huang J , Shen J , Yang Q , Cheng Z , Chen X , Yu T , Zhong J , Su Y , Guo H , Liang B
Published On :2021 Feb
Journal Article


A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Authors :Shao DD , Straussberg R , Ahmed H , Khan A , Tian S , Hill RS , Smith RS , Majmundar AJ , Ameziane N , Neil JE , Yang E , Al Tenaiji A , Jamuar SS , Schlaeger TM , Al-Saffar M , Hovel I , Al-Shamsi A , Basel-Salmon L , Amir AZ , Rento LM , Lim JY , Ganesan I , Shril S , Evrony G , Barkovich AJ , Bauer P , Hildebrandt F , Dong M , Borck G , Beetz C , Al-Gazali L , Eyaid W , Walsh CA
Published On :2021 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Author Correction: 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 :2021 Feb 2
Published Erratum


Author Correction: 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 :2021 Feb 2
Published Erratum


Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.

Authors :Saarentaus EC , Havulinna AS , Mars N , Ahola-Olli A , Kiiskinen TTJ , Partanen J , Ruotsalainen S , Kurki M , Urpa LM , Chen L , Perola M , Salomaa V , Veijola J , Männikkö M , Hall IM , Pietiläinen O , Kaprio J , Ripatti S , Daly M , Palotie A
Published On :2021 Sep
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Better Understanding the Disparity Associated With Black Race in Heart Transplant Outcomes: A National Registry Analysis.

Authors :Maredia H , Bowring MG , Massie AB , Bae S , Kernodle A , Oyetunji S , Merlo C , Higgins RSD , Segev DL , Bush EL
Published On :2021 Feb
Journal Article Research Support, N.I.H., Extramural


Identified unmet needs and proposed solutions in mild-to-moderate haemophilia: A summary of opinions from a roundtable of haemophilia experts.

Authors :Walsh C , Boggio L , Brown-Jones L , Miller R , Hawk S , Savage B , Hansen K , Molter D , Baumann K , Dunn S , Skinner MW , Haugstad K , Johnson S , Davenport T , Bradbury M , Witkop M , Saad H , Cooper DL
Published On :2021 Jan
Journal Article


In-host population dynamics of Mycobacterium tuberculosis complex during active disease.

Authors :Vargas R , Freschi L , Marin M , Epperson LE , Smith M , Oussenko I , Durbin D , Strong M , Salfinger M , Farhat MR
Published On :2021 Feb 1
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Limb positioning and initiation: An evolutionary context of pattern and formation.

Authors :Royle SR , Tabin CJ , Young JJ
Published On :2021 Sep
Journal Article Research Support, N.I.H., Extramural Review


Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities.

Authors :Martin AR , Kanai M , Kamatani Y , Okada Y , Neale BM , Daly MJ
Published On :2021 May
Published Erratum


Expansion sequencing: Spatially precise in situ transcriptomics in intact biological systems.

Authors :Alon S , Goodwin DR , Sinha A , Wassie AT , Chen F , Daugharthy ER , Bando Y , Kajita A , Xue AG , Marrett K , Prior R , Cui Y , Payne AC , Yao CC , Suk HJ , Wang R , Yu CJ , Tillberg P , Reginato P , Pak N , Liu S , Punthambaker S , Iyer EPR , Kohman RE , Miller JA , Lein ES , Lako A , Cullen N , Rodig S , Helvie K , Abravanel DL , Wagle N , Johnson BE , Klughammer J , Slyper M , Waldman J , Jané-Valbuena J , Rozenblatt-Rosen O , Regev A , IMAXT Consortium , Church GM , Marblestone AH , Boyden ES
Published On :2021 Jan 29
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.