Literature DB >> 33536625

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.

Konrad J Karczewski1,2, Laurent C Francioli3,4, Grace Tiao3,4, Beryl B Cummings3,4,5, Jessica Alföldi3,4, Qingbo Wang3,4,6, Ryan L Collins3,6,7, Kristen M Laricchia3,4, Andrea Ganna3,4,8, Daniel P Birnbaum3,4, Laura D Gauthier9, Harrison Brand3,7, Matthew Solomonson3,4, Nicholas A Watts3,4, Daniel Rhodes10, Moriel Singer-Berk3,4, Eleina M England3,4, Eleanor G Seaby3,4, Jack A Kosmicki3,4,6, Raymond K Walters3,4,11, Katherine Tashman3,4,11, Yossi Farjoun9, Eric Banks9, Timothy Poterba3,4,11, Arcturus Wang3,4,11, Cotton Seed3,4,11, Nicola Whiffin3,4,12,13, Jessica X Chong14, Kaitlin E Samocha15, Emma Pierce-Hoffman3,4, Zachary Zappala3,4,16, Anne H O'Donnell-Luria3,4,17,18, Eric Vallabh Minikel3, Ben Weisburd9, Monkol Lek19, James S Ware3,12,13, Christopher Vittal4,11, Irina M Armean3,4, Louis Bergelson9, Kristian Cibulskis9, Kristen M Connolly20, Miguel Covarrubias9, Stacey Donnelly3, Steven Ferriera20, Stacey Gabriel20, Jeff Gentry9, Namrata Gupta3,20, Thibault Jeandet9, Diane Kaplan9, Christopher Llanwarne9, Ruchi Munshi9, Sam Novod9, Nikelle Petrillo9, David Roazen9, Valentin Ruano-Rubio9, Andrea Saltzman3, Molly Schleicher3, Jose Soto9, Kathleen Tibbetts9, Charlotte Tolonen9, Gordon Wade9, Michael E Talkowski3,7,21, Benjamin M Neale3,4,11, Mark J Daly3,4,8,11, Daniel G MacArthur22,23,24,25.   

Abstract

Entities:  

Year:  2021        PMID: 33536625      PMCID: PMC8064911          DOI: 10.1038/s41586-020-03174-8

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   69.504


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Correction to: Nature 10.1038/s41586-020-2308-7 Published online 27 May 2020 In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, and contributed to the generation of the primary data incorporated into the gnomAD resource. In addition, in the legend to Fig. 1, ‘ten’ should have been ‘seven’ in the sentence: “a, Uniform manifold approximation and projection (UMAP)46,47 plot depicting the ancestral diversity of all individuals in gnomAD, using seven principal components.” The original Article has been corrected online.
  17 in total

1.  A painless STING.

Authors:  Sian Lewis
Journal:  Nat Rev Neurosci       Date:  2021-03       Impact factor: 34.870

2.  Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors.

Authors:  Amin H Nassar; Elio Adib; Sarah Abou Alaiwi; Talal El Zarif; Stefan Groha; Elie W Akl; Pier Vitale Nuzzo; Tarek H Mouhieddine; Tomin Perea-Chamblee; Kodi Taraszka; Habib El-Khoury; Muhieddine Labban; Christopher Fong; Kanika S Arora; Chris Labaki; Wenxin Xu; Guru Sonpavde; Robert I Haddad; Kent W Mouw; Marios Giannakis; F Stephen Hodi; Noah Zaitlen; Adam J Schoenfeld; Nikolaus Schultz; Michael F Berger; Laura E MacConaill; Guruprasad Ananda; David J Kwiatkowski; Toni K Choueiri; Deborah Schrag; Jian Carrot-Zhang; Alexander Gusev
Journal:  Cancer Cell       Date:  2022-09-29       Impact factor: 38.585

3.  Leveraging interindividual variability of regulatory activity for refining genetic regulation of gene expression in schizophrenia.

Authors:  Maris Alver; Nikolaos Lykoskoufis; Anna Ramisch; Emmanouil T Dermitzakis; Halit Ongen
Journal:  Mol Psychiatry       Date:  2022-09-16       Impact factor: 13.437

4.  Genetic correlates of phenotypic heterogeneity in autism.

Authors:  Varun Warrier; Xinhe Zhang; Patrick Reed; Alexandra Havdahl; Tyler M Moore; Freddy Cliquet; Claire S Leblond; Thomas Rolland; Anders Rosengren; David H Rowitch; Matthew E Hurles; Daniel H Geschwind; Anders D Børglum; Elise B Robinson; Jakob Grove; Hilary C Martin; Thomas Bourgeron; Simon Baron-Cohen
Journal:  Nat Genet       Date:  2022-06-02       Impact factor: 41.307

5.  PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.

Authors:  Nathan D Olson; Justin Wagner; Jennifer McDaniel; Sarah H Stephens; Samuel T Westreich; Anish G Prasanna; Elaine Johanson; Emily Boja; Ezekiel J Maier; Omar Serang; David Jáspez; José M Lorenzo-Salazar; Adrián Muñoz-Barrera; Luis A Rubio-Rodríguez; Carlos Flores; Konstantinos Kyriakidis; Andigoni Malousi; Kishwar Shafin; Trevor Pesout; Miten Jain; Benedict Paten; Pi-Chuan Chang; Alexey Kolesnikov; Maria Nattestad; Gunjan Baid; Sidharth Goel; Howard Yang; Andrew Carroll; Robert Eveleigh; Mathieu Bourgey; Guillaume Bourque; Gen Li; ChouXian Ma; LinQi Tang; YuanPing Du; ShaoWei Zhang; Jordi Morata; Raúl Tonda; Genís Parra; Jean-Rémi Trotta; Christian Brueffer; Sinem Demirkaya-Budak; Duygu Kabakci-Zorlu; Deniz Turgut; Özem Kalay; Gungor Budak; Kübra Narcı; Elif Arslan; Richard Brown; Ivan J Johnson; Alexey Dolgoborodov; Vladimir Semenyuk; Amit Jain; H Serhat Tetikol; Varun Jain; Mike Ruehle; Bryan Lajoie; Cooper Roddey; Severine Catreux; Rami Mehio; Mian Umair Ahsan; Qian Liu; Kai Wang; Sayed Mohammad Ebrahim Sahraeian; Li Tai Fang; Marghoob Mohiyuddin; Calvin Hung; Chirag Jain; Hanying Feng; Zhipan Li; Luoqi Chen; Fritz J Sedlazeck; Justin M Zook
Journal:  Cell Genom       Date:  2022-04-27

6.  A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.

Authors:  Muhammad Kohailan; Omayma Al-Saei; Sujitha Padmajeya; Waleed Aamer; Najwa Elbashir; Ammira Al-Shabeeb Akil; Abdul-Rauf Kamboh; Khalid Fakhro
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-06-22

7.  FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.

Authors:  Orly Goldstein; Talya Inbar; Merav Kedmi; Mali Gana-Weisz; Beatrice Abramovich; Avi Orr-Urtreger; Vivian E Drory
Journal:  Neurol Genet       Date:  2022-07-06

8.  Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.

Authors:  Maria S Protasova; Fedor E Gusev; Tatiana V Andreeva; Sergey A Klyushnikov; Sergey N Illarioshkin; Evgeny I Rogaev
Journal:  Eur J Hum Genet       Date:  2022-03-29       Impact factor: 5.351

9.  BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Authors:  Sandra Donkervoort; Niklas Krause; Mykola Dergai; Pomi Yun; Judith Koliwer; Svetlana Gorokhova; Janelle Geist Hauserman; Beryl B Cummings; Ying Hu; Rosemarie Smith; Prech Uapinyoying; Vijay S Ganesh; Partha S Ghosh; Kristin G Monaghan; Seby L Edassery; Pia E Ferle; Sarah Silverstein; Katherine R Chao; Molly Snyder; Sara Ellingwood; Diana Bharucha-Goebel; Susan T Iannaccone; Matteo Dal Peraro; A Reghan Foley; Jeffrey N Savas; Véronique Bolduc; Dirk Fasshauer; Carsten G Bönnemann; Michael Schwake
Journal:  EMBO Mol Med       Date:  2021-11-15       Impact factor: 12.137

10.  The Evolutionary History of Vertebrate Adhesion GPCRs and Its Implication on Their Classification.

Authors:  Aline Wittlake; Simone Prömel; Torsten Schöneberg
Journal:  Int J Mol Sci       Date:  2021-10-30       Impact factor: 5.923

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