Literature DB >> 34840333

Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Elizabeth Emma Palmer1,2.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 34840333      PMCID： PMC8904575          DOI： 10.1038/s41431-021-01007-4

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  13 in total

1.  ClinVar at five years: Delivering on the promise.

Authors:  Melissa J Landrum; Brandi L Kattman
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

2.  Care for patients with ultra-rare disorders.

Authors:  Raoul C M Hennekam
Journal:  Eur J Med Genet       Date:  2010-12-10       Impact factor: 2.708

3.  De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Authors:  Mari J Tokita; Alicia A Braxton; Yunru Shao; Andrea M Lewis; Marie Vincent; Sébastien Küry; Thomas Besnard; Bertrand Isidor; Xénia Latypova; Stéphane Bézieau; Pengfei Liu; Connie S Motter; Catherine Ward Melver; Nathaniel H Robin; Elena M Infante; Marianne McGuire; Areeg El-Gharbawy; Rebecca O Littlejohn; Scott D McLean; Weimin Bi; Carlos A Bacino; Seema R Lalani; Daryl A Scott; Christine M Eng; Yaping Yang; Christian P Schaaf; Magdalena A Walkiewicz
Journal:  Am J Hum Genet       Date:  2016-08-18       Impact factor: 11.025

4.  De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Authors:  Jung-Hyun Kim; Deepali N Shinde; Margot R F Reijnders; Natalie S Hauser; Rebecca L Belmonte; Gregory R Wilson; Daniëlle G M Bosch; Paula A Bubulya; Vandana Shashi; Slavé Petrovski; Joshua K Stone; Eun Young Park; Joris A Veltman; Margje Sinnema; Connie T R M Stumpel; Jos M Draaisma; Joost Nicolai; Helger G Yntema; Kristin Lindstrom; Bert B A de Vries; Tamison Jewett; Stephanie L Santoro; Julie Vogt; Kristine K Bachman; Andrea H Seeley; Alyson Krokosky; Clesson Turner; Luis Rohena; Maja Hempel; Fanny Kortüm; Davor Lessel; Axel Neu; Tim M Strom; Dagmar Wieczorek; Nuria Bramswig; Franco A Laccone; Jana Behunova; Helga Rehder; Christopher T Gordon; Marlène Rio; Serge Romana; Sha Tang; Dima El-Khechen; Megan T Cho; Kirsty McWalter; Ganka Douglas; Berivan Baskin; Amber Begtrup; Tara Funari; Kelly Schoch; Alexander P A Stegmann; Servi J C Stevens; Dong-Er Zhang; David Traver; Xu Yao; Daniel G MacArthur; Han G Brunner; Grazia M Mancini; Richard M Myers; Laurie B Owen; Ssang-Taek Lim; David L Stachura; Lisenka E L M Vissers; Eun-Young Erin Ahn
Journal:  Am J Hum Genet       Date:  2016-08-18       Impact factor: 11.025

5.  Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.

Authors:  Toshiki Takenouchi; Kiyokuni Miura; Tomoko Uehara; Seiji Mizuno; Kenjiro Kosaki
Journal:  Am J Med Genet A       Date:  2016-06-03       Impact factor: 2.802

Review 6.  Quantitative retrospective natural history modeling for orphan drug development.

Authors:  Sven F Garbade; Matthias Zielonka; Shoko Komatsuzaki; Stefan Kölker; Georg F Hoffmann; Katrin Hinderhofer; William K Mountford; Eugen Mengel; Tomáš Sláma; Konstantin Mechler; Markus Ries
Journal:  J Inherit Metab Dis       Date:  2020-09-08       Impact factor: 4.982

7.  Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Authors:  Alexander J M Dingemans; Kim M G Truijen; Jung-Hyun Kim; Zahide Alaçam; Laurence Faivre; Kathleen M Collins; Erica H Gerkes; Mieke van Haelst; Ingrid M B H van de Laar; Kristin Lindstrom; Mathilde Nizon; James Pauling; Edyta Heropolitańska-Pliszka; Astrid S Plomp; Caroline Racine; Rani Sachdev; Margje Sinnema; Jon Skranes; Hermine E Veenstra-Knol; Eline A Verberne; Anneke T Vulto-van Silfhout; Marlon E F Wilsterman; Eun-Young Erin Ahn; Bert B A de Vries; Lisenka E L M Vissers
Journal:  Eur J Hum Genet       Date:  2021-09-15       Impact factor: 5.351

8.  Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Authors:  Siddharth Srivastava; Jamie A Love-Nichols; Kira A Dies; David H Ledbetter; Christa L Martin; Wendy K Chung; Helen V Firth; Thomas Frazier; Robin L Hansen; Lisa Prock; Han Brunner; Ny Hoang; Stephen W Scherer; Mustafa Sahin; David T Miller
Journal:  Genet Med       Date:  2019-06-11       Impact factor: 8.822

9.  Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

Authors:  Alexander J M Dingemans; Diante E Stremmelaar; Lisenka E L M Vissers; Sandra Jansen; Maria J Nabais Sá; Angela van Remortele; Noraly Jonis; Kim Truijen; Sam van de Ven; Jeroen Ewals; Michel Verbruggen; David A Koolen; Han G Brunner; Evan E Eichler; Jozef Gecz; Bert B A de Vries
Journal:  Am J Med Genet A       Date:  2021-01-13       Impact factor: 2.802

10.  The FAIR Guiding Principles for scientific data management and stewardship.

Authors:  Mark D Wilkinson; Michel Dumontier; I Jsbrand Jan Aalbersberg; Gabrielle Appleton; Myles Axton; Arie Baak; Niklas Blomberg; Jan-Willem Boiten; Luiz Bonino da Silva Santos; Philip E Bourne; Jildau Bouwman; Anthony J Brookes; Tim Clark; Mercè Crosas; Ingrid Dillo; Olivier Dumon; Scott Edmunds; Chris T Evelo; Richard Finkers; Alejandra Gonzalez-Beltran; Alasdair J G Gray; Paul Groth; Carole Goble; Jeffrey S Grethe; Jaap Heringa; Peter A C 't Hoen; Rob Hooft; Tobias Kuhn; Ruben Kok; Joost Kok; Scott J Lusher; Maryann E Martone; Albert Mons; Abel L Packer; Bengt Persson; Philippe Rocca-Serra; Marco Roos; Rene van Schaik; Susanna-Assunta Sansone; Erik Schultes; Thierry Sengstag; Ted Slater; George Strawn; Morris A Swertz; Mark Thompson; Johan van der Lei; Erik van Mulligen; Jan Velterop; Andra Waagmeester; Peter Wittenburg; Katherine Wolstencroft; Jun Zhao; Barend Mons
Journal:  Sci Data       Date:  2016-03-15       Impact factor: 6.444
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.