Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Alicia Scocchia; Tiia Kangas-Kontio; Melita Irving; Matti Hero; Inka Saarinen; Liisa Pelttari; Kimberly Gall; Satu Valo; Johanna M. Huusko; Jonna Tallila; Johanna Sistonen; Juha Koskenvuo; Tero-Pekka Alastalo

doi:10.1186/s13023-021-02025-7

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	412
Lehti	Orphanet journal of rare diseases
Vuosikerta	16
Numero	1
Sivumäärä	10
ISSN	1750-1172
DOI - pysyväislinkit	https://doi.org/10.1186/s13023-021-02025-7
Tila	Julkaistu - 9 lokak. 2021
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

Correction: Volume17, Issue1
Article Number 59
DOI: 10.1186/s13023-022-02242-8
Published FEB 17 2022

Tieteenalat

1184 Genetiikka, kehitysbiologia, fysiologia

Pääsy asiakirjaan

10.1186/s13023-021-02025-7

Correction to_ Diagnostic utility of ne..Lopullinen julkaistu versio, 195 KBLisenssi: CC BY
Diagnostic utility of next-generation s..Lopullinen julkaistu versio, 2,61 MBLisenssi: CC BY

Siteeraa tätä

Scocchia, A., Kangas-Kontio, T., Irving, M., Hero, M., Saarinen, I., Pelttari, L., Gall, K., Valo, S., Huusko, J. M., Tallila, J., Sistonen, J., Koskenvuo, J., & Alastalo, T.-P. (2021). Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia. Orphanet journal of rare diseases, 16(1), Artikkeli 412. https://doi.org/10.1186/s13023-021-02025-7

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title = "Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia",

keywords = "Skeletal dysplasia, Skeletal disorders, Next-generation sequencing, Multi-gene panel, Molecular diagnostics, Genetic diagnostics, Prenatal genetic testing, Copy number variant analysis, PRENATAL-DIAGNOSIS, 1184 Genetics, developmental biology, physiology",

author = "Alicia Scocchia and Tiia Kangas-Kontio and Melita Irving and Matti Hero and Inka Saarinen and Liisa Pelttari and Kimberly Gall and Satu Valo and Huusko, {Johanna M.} and Jonna Tallila and Johanna Sistonen and Juha Koskenvuo and Tero-Pekka Alastalo",

note = "Correction: Volume17, Issue1 Article Number 59 DOI: 10.1186/s13023-022-02242-8 Published FEB 17 2022",

year = "2021",

month = oct,

day = "9",

doi = "10.1186/s13023-021-02025-7",

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Scocchia, A, Kangas-Kontio, T, Irving, M, Hero, M, Saarinen, I, Pelttari, L, Gall, K, Valo, S, Huusko, JM, Tallila, J, Sistonen, J, Koskenvuo, J & Alastalo, T-P 2021, 'Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia', Orphanet journal of rare diseases, Vuosikerta 16, Nro 1, 412. https://doi.org/10.1186/s13023-021-02025-7

TY - JOUR

T1 - Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

AU - Scocchia, Alicia

AU - Kangas-Kontio, Tiia

AU - Irving, Melita

AU - Hero, Matti

AU - Saarinen, Inka

AU - Pelttari, Liisa

AU - Gall, Kimberly

AU - Valo, Satu

AU - Huusko, Johanna M.

AU - Tallila, Jonna

AU - Sistonen, Johanna

AU - Koskenvuo, Juha

AU - Alastalo, Tero-Pekka

N1 - Correction: Volume17, Issue1 Article Number 59 DOI: 10.1186/s13023-022-02242-8 Published FEB 17 2022

PY - 2021/10/9

Y1 - 2021/10/9

KW - Skeletal dysplasia

KW - Skeletal disorders

KW - Next-generation sequencing

KW - Multi-gene panel

KW - Molecular diagnostics

KW - Genetic diagnostics

KW - Prenatal genetic testing

KW - Copy number variant analysis

KW - PRENATAL-DIAGNOSIS

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1186/s13023-021-02025-7

DO - 10.1186/s13023-021-02025-7

M3 - Article

SN - 1750-1172

VL - 16

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

IS - 1

M1 - 412

ER -