Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants-Reference-Cited by-全球学者库

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Published:2022-11 Issue:11 Volume:24 Page:2351-2366
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kayumi Sayaka^ORCID,Pérez-Jurado Luis A.,Palomares María,Rangu Sneha^ORCID,Sheppard Sarah E.^ORCID,Chung Wendy K.^ORCID,Kruer Michael C.^ORCID,Kharbanda Mira^ORCID,Amor David J.^ORCID,McGillivray George^ORCID,Cohen Julie S.^ORCID,García-Miñaúr Sixto,van Eyk Clare L.^ORCID,Harper Kelly,Jolly Lachlan A.^ORCID,Webber Dani L.,Barnett Christopher P.^ORCID,Santos-Simarro Fernando^ORCID,Pacio-Míguez Marta,Pozo Angela del^ORCID,Bakhtiari Somayeh,Deardorff Matthew,Dubbs Holly A.^ORCID,Izumi Kosuke^ORCID,Grand Katheryn,Gray Christopher,Mark Paul R.,Bhoj Elizabeth J.^ORCID,Li Dong,Ortiz-Gonzalez Xilma R.^ORCID,Keena Beth,Zackai Elaine H.^ORCID,Goldberg Ethan M.^ORCID,Perez de Nanclares Guiomar^ORCID,Pereda Arrate^ORCID,Llano-Rivas Isabel^ORCID,Arroyo Ignacio,Fernández-Cuesta María Ángeles,Thauvin-Robinet Christel^ORCID,Faivre Laurence^ORCID,Garde Aurore^ORCID,Mazel Benoit^ORCID,Bruel Ange-Line^ORCID,Tress Michael L.^ORCID,Brilstra Eva^ORCID,Fine Amena Smith^ORCID,Crompton Kylie E.^ORCID,Stegmann Alexander P.A.^ORCID,Sinnema Margje,Stevens Servi C.J.^ORCID,Nicolai Joost^ORCID,Lesca Gaetan^ORCID,Lion-François Laurence,Haye Damien,Chatron Nicolas^ORCID,Piton Amelie,Nizon Mathilde^ORCID,Cogne Benjamin,Srivastava Siddharth,Bassetti Jennifer^ORCID,Muss Candace,Gripp Karen W.,Procopio Rebecca A.,Millan Francisca^ORCID,Morrow Michelle M.,Assaf Melissa,Moreno-De-Luca Andres^ORCID,Joss Shelagh^ORCID,Hamilton Mark J.,Bertoli Marta^ORCID,Foulds Nicola^ORCID,McKee Shane^ORCID,MacLennan Alastair H.^ORCID,Gecz Jozef^ORCID,Corbett Mark A.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference48 articles.

1. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology;Vissers;Genet Med,2017

2. Mendelian etiologies identified with whole exome sequencing in cerebral palsy;Chopra;Ann Clin Transl Neurol,2022

3. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing;van Eyk;NPJ Genom Med,2021

4. Molecular diagnostic yield of exome sequencing in patients with cerebral palsy;Moreno-De-Luca;JAMA,2021

5. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum;Kuechler;Hum Genet,2015

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2. Clinical characteristics suggestive of a genetic cause in cerebral palsy: A systematic review;Pediatric Neurology;2024-02

3. Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder;Clinical Genetics;2024-01-21

4. A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder;BMC Pediatrics;2024-01-15

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