Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Eevi Kaasinen, Elisa Rahikkala, Peppi Koivunen, Sirpa Miettinen, Mirjam M. C. Wamelink, Mervi Aavikko, Kimmo Palin, Johanna Myllyharju, Jukka S. Moilanen, Leila Pajunen, Auli Karhu, Lauri A. Aaltonen

Research output: Contribution to journal › Article › Scientific › peer-review

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume57
Issue number10
Pages (from-to)543-551
Number of pages9
ISSN1769-7212
DOIs
Publication statusPublished - Oct 2014
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Profound syndromic intellectual disability
  • Autosomal recessive
  • Consanguineous family
  • Homozygosity mapping
  • Whole-genome sequencing
  • TKT
  • P4HTM
  • USP4
  • TRANSMEMBRANE PROLYL 4-HYDROXYLASE
  • PENTOSE-PHOSPHATE PATHWAY
  • COGNITIVE DISORDERS
  • MENTAL-RETARDATION
  • MUTATIONS
  • DEFICIENCY
  • 3111 Biomedicine

Cite this

Kaasinen, Eevi ; Rahikkala, Elisa ; Koivunen, Peppi ; Miettinen, Sirpa ; Wamelink, Mirjam M. C. ; Aavikko, Mervi ; Palin, Kimmo ; Myllyharju, Johanna ; Moilanen, Jukka S. ; Pajunen, Leila ; Karhu, Auli ; Aaltonen, Lauri A. / Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. In: European Journal of Medical Genetics. 2014 ; Vol. 57, No. 10. pp. 543-551.
@article{51312cdb6dfd4c58bffa43da5a268043,
title = "Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome",
keywords = "Profound syndromic intellectual disability, Autosomal recessive, Consanguineous family, Homozygosity mapping, Whole-genome sequencing, TKT, P4HTM, USP4, TRANSMEMBRANE PROLYL 4-HYDROXYLASE, PENTOSE-PHOSPHATE PATHWAY, COGNITIVE DISORDERS, MENTAL-RETARDATION, MUTATIONS, DEFICIENCY, 3111 Biomedicine",
author = "Eevi Kaasinen and Elisa Rahikkala and Peppi Koivunen and Sirpa Miettinen and Wamelink, {Mirjam M. C.} and Mervi Aavikko and Kimmo Palin and Johanna Myllyharju and Moilanen, {Jukka S.} and Leila Pajunen and Auli Karhu and Aaltonen, {Lauri A.}",
year = "2014",
month = "10",
doi = "10.1016/j.ejmg.2014.07.002",
language = "English",
volume = "57",
pages = "543--551",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Scientific Publ. Co",
number = "10",

}

Kaasinen, E, Rahikkala, E, Koivunen, P, Miettinen, S, Wamelink, MMC, Aavikko, M, Palin, K, Myllyharju, J, Moilanen, JS, Pajunen, L, Karhu, A & Aaltonen, LA 2014, 'Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome' European Journal of Medical Genetics, vol. 57, no. 10, pp. 543-551. https://doi.org/10.1016/j.ejmg.2014.07.002

Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. / Kaasinen, Eevi; Rahikkala, Elisa; Koivunen, Peppi; Miettinen, Sirpa; Wamelink, Mirjam M. C.; Aavikko, Mervi; Palin, Kimmo; Myllyharju, Johanna; Moilanen, Jukka S.; Pajunen, Leila; Karhu, Auli; Aaltonen, Lauri A.

In: European Journal of Medical Genetics, Vol. 57, No. 10, 10.2014, p. 543-551.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

AU - Kaasinen, Eevi

AU - Rahikkala, Elisa

AU - Koivunen, Peppi

AU - Miettinen, Sirpa

AU - Wamelink, Mirjam M. C.

AU - Aavikko, Mervi

AU - Palin, Kimmo

AU - Myllyharju, Johanna

AU - Moilanen, Jukka S.

AU - Pajunen, Leila

AU - Karhu, Auli

AU - Aaltonen, Lauri A.

PY - 2014/10

Y1 - 2014/10

KW - Profound syndromic intellectual disability

KW - Autosomal recessive

KW - Consanguineous family

KW - Homozygosity mapping

KW - Whole-genome sequencing

KW - TKT

KW - P4HTM

KW - USP4

KW - TRANSMEMBRANE PROLYL 4-HYDROXYLASE

KW - PENTOSE-PHOSPHATE PATHWAY

KW - COGNITIVE DISORDERS

KW - MENTAL-RETARDATION

KW - MUTATIONS

KW - DEFICIENCY

KW - 3111 Biomedicine

U2 - 10.1016/j.ejmg.2014.07.002

DO - 10.1016/j.ejmg.2014.07.002

M3 - Article

VL - 57

SP - 543

EP - 551

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 10

ER -

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MMC, Aavikko M et al. Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. European Journal of Medical Genetics. 2014 Oct;57(10):543-551. https://doi.org/10.1016/j.ejmg.2014.07.002

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