Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome

Filatova, Alexandra; Freire Chadrina, Maria; Lozier, Ekaterina; Konovalov, Fedor; Bessonova, Ludmila; Iudina, Elena; Gnetetskaya, Valentina; Kanivets, Ilya; Korostelev, Sergey; Skoblov, Mikhail

doi:10.1111/cge.13472

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Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome

Filatova, Alexandra; Freire Chadrina, Maria; Lozier, Ekaterina et al.

2018 • In Clinical Genetics, 95 (3), p. 440-441

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/258925

DOI
10.1111/cge.13472

PubMed
30485398

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Disciplines :

Genetics & genetic processes

Author, co-author :

Filatova, Alexandra; Research Centre for Medical Genetics, Moscow, Russia

Freire Chadrina, Maria ; Research Centre for Medical Genetics, Moscow, Russia

Lozier, Ekaterina; Genomed Ltd., Moscow, Russia

Konovalov, Fedor; Genomed Ltd., Moscow, Russia

Bessonova, Ludmila; Research Centre for Medical Genetics, Moscow, Russia

Iudina, Elena; MD Medical Group “Mother and Child”, Moscow, Russia

Gnetetskaya, Valentina; MD Medical Group “Mother and Child”, Moscow, Russia

Kanivets, Ilya; Genomed Ltd., Moscow, Russia

Korostelev, Sergey; Genomed Ltd., Moscow, Russia

Skoblov, Mikhail; Research Centre for Medical Genetics, Moscow, Russia

Language :

English

Title :

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome

Publication date :

28 November 2018

Journal title :

Clinical Genetics

ISSN :

0009-9163

eISSN :

1399-0004

Publisher :

Wiley, Oxford, United Kingdom

Volume :

Issue :

Pages :

440-441

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 17 April 2021

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Bibliography

Fu F, Li R, Li Y, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2018;51(4):493-502.
Dickinson ME, Flenniken AM, Ji X, et al. High-throughput discovery of novel developmental phenotypes. Nature. 2016;537(7621):508-514.
Alazami AM, Patel N, Shamseldin HE, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148-161.
Gueneau L, Fish RJ, Shamseldin HE, et al. KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis. Am J Hum Genet. 2018;102(1):116-132.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.