Correction to: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4)

Berta Estévez-Arias; Leslie Matalonga; Delia Yubero; Kiran Polavarapu; Anna Codina; Carlos Ortez; Laura Carrera-García; Jesica Expósito-Escudero; Cristina Jou; Stefanie Meyer; Ozge Aksel Kilicarslan; Alberto Aleman; Rachel Thompson; Rebeka Luknárová; Anna Esteve-Codina; Marta Gut; Steven Laurie; German Demidov; Vicente A. Yépez; Sergi Beltran; Julien Gagneur; Ana Topf; Hanns Lochmüller; Andres Nascimento; Janet Hoenicka; Francesc Palau; Daniel Natera-de Benito

doi:10.1038/s41431-024-01756-y

Correction to: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4)

Berta Estévez-Arias
, Leslie Matalonga
, Delia Yubero
, Kiran Polavarapu
, Anna Codina
, Carlos Ortez
, Laura Carrera-García
, Jesica Expósito-Escudero
, Cristina Jou
, Stefanie Meyer
, Ozge Aksel Kilicarslan
, Alberto Aleman
, Rachel Thompson
, Rebeka Luknárová
, Anna Esteve-Codina
, Marta Gut
, Steven Laurie
, German Demidov
, Vicente A. Yépez
, Sergi Beltran

Julien Gagneur, Ana Topf, Hanns Lochmüller, Andres Nascimento, Janet Hoenicka, Francesc Palau, Daniel Natera-de Benito

Informatik 29 - Lehrstuhl für Computational Molecular Medicine

Sant Joan de Déu Hospital
Institut de Recerca Sant Joan de Déu
Centro Nacional de Análisis Genómico (CNAG)
Universitat de Barcelona
CIBER de Enfermedades Raras (CIBERER)
University of Ottawa
University Medical Center
The Ottawa Hospital
Technische Universität München
University of Tübingen
Helmholtz Zentrum München German Research Center for Environmental Health
Newcastle Hospitals NHS Foundation Trust
ERN ITHACA

Publikation: Beitrag in Fachzeitschrift › Kommentar/Debatte

Abstract

Correction to: European Journal of Human Geneticshttps://doi.org/10.1038/s41431-024-01699-4, published online 27 September 2024 In the original article was a typo in Table 1 for patient 17. The correct variant is “c.33055del (p.Glu11019Serfs*21)” instead of “c.32104del (p.Ser10702LeufsTer6)” The original article has been corrected.

Originalsprache	Englisch
Fachzeitschrift	European Journal of Human Genetics
DOIs	https://doi.org/10.1038/s41431-024-01756-y
Publikationsstatus	Angenommen/Im Druck - 2024

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gute Gesundheit und Wohlergehen

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10.1038/s41431-024-01756-y

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Estévez-Arias, B., Matalonga, L., Yubero, D., Polavarapu, K., Codina, A., Ortez, C., Carrera-García, L., Expósito-Escudero, J., Jou, C., Meyer, S., Kilicarslan, O. A., Aleman, A., Thompson, R., Luknárová, R., Esteve-Codina, A., Gut, M., Laurie, S., Demidov, G., Yépez, V. A., ... Natera-de Benito, D. (Angenommen/Im Druck). Correction to: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4). European Journal of Human Genetics. https://doi.org/10.1038/s41431-024-01756-y

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title = "Correction to: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4)",

abstract = "Correction to: European Journal of Human Geneticshttps://doi.org/10.1038/s41431-024-01699-4, published online 27 September 2024 In the original article was a typo in Table 1 for patient 17. The correct variant is “c.33055del (p.Glu11019Serfs*21)” instead of “c.32104del (p.Ser10702LeufsTer6)” The original article has been corrected.",

author = "Berta Est{\'e}vez-Arias and Leslie Matalonga and Delia Yubero and Kiran Polavarapu and Anna Codina and Carlos Ortez and Laura Carrera-Garc{\'i}a and Jesica Exp{\'o}sito-Escudero and Cristina Jou and Stefanie Meyer and Kilicarslan, \{Ozge Aksel\} and Alberto Aleman and Rachel Thompson and Rebeka Lukn{\'a}rov{\'a} and Anna Esteve-Codina and Marta Gut and Steven Laurie and German Demidov and Y{\'e}pez, \{Vicente A.\} and Sergi Beltran and Julien Gagneur and Ana Topf and Hanns Lochm{\"u}ller and Andres Nascimento and Janet Hoenicka and Francesc Palau and \{Natera-de Benito\}, Daniel",

note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to European Society of Human Genetics 2024.",

year = "2024",

doi = "10.1038/s41431-024-01756-y",

language = "English",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

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Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C, Carrera-García, L, Expósito-Escudero, J, Jou, C, Meyer, S, Kilicarslan, OA, Aleman, A, Thompson, R, Luknárová, R, Esteve-Codina, A, Gut, M, Laurie, S, Demidov, G, Yépez, VA, Beltran, S, Gagneur, J, Topf, A, Lochmüller, H, Nascimento, A, Hoenicka, J, Palau, F & Natera-de Benito, D 2024, 'Correction to: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4)', European Journal of Human Genetics. https://doi.org/10.1038/s41431-024-01756-y

TY - JOUR

T1 - Correction to

T2 - Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01699-4)

AU - Estévez-Arias, Berta

AU - Matalonga, Leslie

AU - Yubero, Delia

AU - Polavarapu, Kiran

AU - Codina, Anna

AU - Ortez, Carlos

AU - Carrera-García, Laura

AU - Expósito-Escudero, Jesica

AU - Jou, Cristina

AU - Meyer, Stefanie

AU - Kilicarslan, Ozge Aksel

AU - Aleman, Alberto

AU - Thompson, Rachel

AU - Luknárová, Rebeka

AU - Esteve-Codina, Anna

AU - Gut, Marta

AU - Laurie, Steven

AU - Demidov, German

AU - Yépez, Vicente A.

AU - Beltran, Sergi

AU - Gagneur, Julien

AU - Topf, Ana

AU - Lochmüller, Hanns

AU - Nascimento, Andres

AU - Hoenicka, Janet

AU - Palau, Francesc

AU - Natera-de Benito, Daniel

PY - 2024

Y1 - 2024

N2 - Correction to: European Journal of Human Geneticshttps://doi.org/10.1038/s41431-024-01699-4, published online 27 September 2024 In the original article was a typo in Table 1 for patient 17. The correct variant is “c.33055del (p.Glu11019Serfs*21)” instead of “c.32104del (p.Ser10702LeufsTer6)” The original article has been corrected.

AB - Correction to: European Journal of Human Geneticshttps://doi.org/10.1038/s41431-024-01699-4, published online 27 September 2024 In the original article was a typo in Table 1 for patient 17. The correct variant is “c.33055del (p.Glu11019Serfs*21)” instead of “c.32104del (p.Ser10702LeufsTer6)” The original article has been corrected.

UR - https://www.scopus.com/pages/publications/85212185284

U2 - 10.1038/s41431-024-01756-y

DO - 10.1038/s41431-024-01756-y

M3 - Comment/debate

AN - SCOPUS:85212185284

SN - 1018-4813

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -