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

Informatics 29 - Chair of Computational Molecular Medicine

Research output: Contribution to journal › Comment/debate

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.

Original language	English
Journal	European Journal of Human Genetics
DOIs	https://doi.org/10.1038/s41431-024-01756-y
State	Accepted/In press - 2024

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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. (Accepted/In press). 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

@article{c969f74fb49f4aaababf9b1d5526947d,

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 - http://www.scopus.com/inward/record.url?scp=85212185284&partnerID=8YFLogxK

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 -

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

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