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

Sayaka Kayumi | Zendy; Luis A. PérezJurado | Zendy; María PalomaresBralo | Zendy; Sneha Rangu | Zendy; Sarah E. Sheppard | Zendy; Wendy K. Chung | Zendy; Michael C. Kruer | Zendy; Mira Kharbanda | Zendy; David J. Amor | Zendy; George McGillivray | Zendy; Julie S. Cohen | Zendy; Sixto GarcíaMiñaúr | Zendy; Clare L. van Eyk | Zendy; Kelly Harper | Zendy; Lachlan A. Jolly | Zendy; Dani L. Webber | Zendy; Christopher Barnett | Zendy; Fernando SantosSimarro | Zendy; Marta PacioMíguez | Zendy; Ángela del Pozo | Zendy; Somayeh Bakhtiari | Zendy; Matthew A. Deardorff | Zendy; Holly Dubbs | Zendy; Kosuke Izumi | Zendy; Katheryn Grand | Zendy; Christopher Gray | Zendy; Paul R. Mark | Zendy; Elizabeth Bhoj | Zendy; Dong Li | Zendy; Xilma R. OrtizGonzález | Zendy; Beth Keena | Zendy; Elaine H. Zackai | Zendy; Ethan M. Goldberg | Zendy; Guiomar Pérez de Nanclares | Zendy; Arrate Pereda | Zendy; Isabel LlanoRivas | Zendy; Ignacio Arroyo | Zendy; María Ángeles Fernández-Cuesta | Zendy; Christel ThauvinRobinet | Zendy; Laurence Faivre | Zendy; Aurore Garde | Zendy; Benoît Mazel | Zendy; AngeLine Bruel | Zendy; Michael L. Tress | Zendy; Eva H. Brilstra | Zendy; Amena Smith Fine | Zendy; Kylie Crompton | Zendy; Alexander P.A. Stegmann | Zendy; Margje Sinnema | Zendy; Servi J.C. Stevens | Zendy; Joost Nicolai | Zendy; Gaëtan Lesca | Zendy; Laurence LionFrançois | Zendy; Damien Haye | Zendy; Nicolas Chatron | Zendy; Amélie Piton | Zendy; Mathilde Nizon | Zendy; Benjamin Cogné | Zendy; Siddharth Srivastava | Zendy; Jennifer A. Bassetti | Zendy; Candace Muss | Zendy; Karen W. Gripp | Zendy; Rebecca Procopio | Zendy; Francisca Millan | Zendy; Michelle M. Morrow | Zendy; Melissa Assaf | Zendy; Andrés Moreno-De-Luca | Zendy; Shelagh Joss | Zendy; Mark Hamilton | Zendy; M. Bertoli | Zendy; Nicola Foulds | Zendy; Shane McKee | Zendy; Alastair H. MacLennan | Zendy; Jozef Gécz | Zendy; Mark Corbett | Zendy

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

Author(s) -

Sayaka Kayumi,

Luis A. PérezJurado,

María PalomaresBralo,

Sneha Rangu,

Sarah E. Sheppard,

Wendy K. Chung,

Michael C. Kruer,

Mira Kharbanda,

David J. Amor,

George McGillivray,

Julie S. Cohen,

Sixto GarcíaMiñaúr,

Clare L. van Eyk,

Kelly Harper,

Lachlan A. Jolly,

Dani L. Webber,

Christopher Barnett,

Fernando SantosSimarro,

Marta PacioMíguez,

Ángela del Pozo,

Somayeh Bakhtiari,

Matthew A. Deardorff,

Holly Dubbs,

Kosuke Izumi,

Katheryn Grand,

Christopher Gray,

Paul R. Mark,

Elizabeth Bhoj,

Dong Li,

Xilma R. OrtizGonzález,

Beth Keena,

Elaine H. Zackai,

Ethan M. Goldberg,

Guiomar Pérez de Nanclares,

Arrate Pereda,

Isabel LlanoRivas,

Ignacio Arroyo,

María Ángeles Fernández-Cuesta,

Christel ThauvinRobinet,

Laurence Faivre,

Aurore Garde,

Benoît Mazel,

AngeLine Bruel,

Michael L. Tress,

Eva H. Brilstra,

Amena Smith Fine,

Kylie Crompton,

Alexander P.A. Stegmann,

Margje Sinnema,

Servi J.C. Stevens,

Joost Nicolai,

Gaëtan Lesca,

Laurence LionFrançois,

Damien Haye,

Nicolas Chatron,

Amélie Piton,

Mathilde Nizon,

Benjamin Cogné,

Siddharth Srivastava,

Jennifer A. Bassetti,

Candace Muss,

Karen W. Gripp,

Rebecca Procopio,

Francisca Millan,

Michelle M. Morrow,

Melissa Assaf,

Andrés Moreno-De-Luca,

Shelagh Joss,

Mark Hamilton,

M. Bertoli,

Nicola Foulds,

Shane McKee,

Alastair H. MacLennan,

Jozef Gécz,

Mark Corbett

Publication year - 2022

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2022.08.006

Subject(s) - phenotype , missense mutation , genetics , neurodevelopmental disorder , germline , biology , medicine , gene

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