Phenotype mining in CNV carriers from a population cohort

Olli P. H. Pietilainen, Karola Rehnstrom, Eveliina Jakkula, Susan K. Service, Eliza Congdon, Carola Tilgmann, Anna-Liisa Hartikainen, Anja Taanila, Ulla Heikura, Tiina Paunio, Samuli Ripatti, Marjo-Riitta Jarvelin, Matti Isohanni, Chiara Sabatti, Aarno Palotie, Nelson B. Freimer, Leena Palotie

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalHuman Molecular Genetics
Volume20
Issue number13
Pages (from-to)2686-2695
Number of pages10
ISSN0964-6906
DOIs
Publication statusPublished - 2011
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 1966 BIRTH COHORT
  • COPY NUMBER VARIATION
  • WHOLE-GENOME ASSOCIATION
  • HIDDEN-MARKOV MODEL
  • SNP GENOTYPING DATA
  • 28-YEAR FOLLOW-UP
  • NORTHERN FINLAND
  • MICRODELETION SYNDROME
  • MENTAL-RETARDATION
  • DEVELOPMENTAL DELAY
  • 3111 Biomedicine

Cite this

Pietilainen, O. P. H., Rehnstrom, K., Jakkula, E., Service, S. K., Congdon, E., Tilgmann, C., ... Palotie, L. (2011). Phenotype mining in CNV carriers from a population cohort. Human Molecular Genetics, 20(13), 2686-2695. https://doi.org/10.1093/hmg/ddr162
Pietilainen, Olli P. H. ; Rehnstrom, Karola ; Jakkula, Eveliina ; Service, Susan K. ; Congdon, Eliza ; Tilgmann, Carola ; Hartikainen, Anna-Liisa ; Taanila, Anja ; Heikura, Ulla ; Paunio, Tiina ; Ripatti, Samuli ; Jarvelin, Marjo-Riitta ; Isohanni, Matti ; Sabatti, Chiara ; Palotie, Aarno ; Freimer, Nelson B. ; Palotie, Leena. / Phenotype mining in CNV carriers from a population cohort. In: Human Molecular Genetics. 2011 ; Vol. 20, No. 13. pp. 2686-2695.
@article{b636d189c6d3458aab12e8d63f1d2773,
title = "Phenotype mining in CNV carriers from a population cohort",
keywords = "1966 BIRTH COHORT, COPY NUMBER VARIATION, WHOLE-GENOME ASSOCIATION, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, 28-YEAR FOLLOW-UP, NORTHERN FINLAND, MICRODELETION SYNDROME, MENTAL-RETARDATION, DEVELOPMENTAL DELAY, 3111 Biomedicine",
author = "Pietilainen, {Olli P. H.} and Karola Rehnstrom and Eveliina Jakkula and Service, {Susan K.} and Eliza Congdon and Carola Tilgmann and Anna-Liisa Hartikainen and Anja Taanila and Ulla Heikura and Tiina Paunio and Samuli Ripatti and Marjo-Riitta Jarvelin and Matti Isohanni and Chiara Sabatti and Aarno Palotie and Freimer, {Nelson B.} and Leena Palotie",
year = "2011",
doi = "10.1093/hmg/ddr162",
language = "English",
volume = "20",
pages = "2686--2695",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "13",

}

Pietilainen, OPH, Rehnstrom, K, Jakkula, E, Service, SK, Congdon, E, Tilgmann, C, Hartikainen, A-L, Taanila, A, Heikura, U, Paunio, T, Ripatti, S, Jarvelin, M-R, Isohanni, M, Sabatti, C, Palotie, A, Freimer, NB & Palotie, L 2011, 'Phenotype mining in CNV carriers from a population cohort', Human Molecular Genetics, vol. 20, no. 13, pp. 2686-2695. https://doi.org/10.1093/hmg/ddr162

Phenotype mining in CNV carriers from a population cohort. / Pietilainen, Olli P. H.; Rehnstrom, Karola; Jakkula, Eveliina; Service, Susan K.; Congdon, Eliza; Tilgmann, Carola; Hartikainen, Anna-Liisa; Taanila, Anja; Heikura, Ulla; Paunio, Tiina; Ripatti, Samuli; Jarvelin, Marjo-Riitta; Isohanni, Matti; Sabatti, Chiara; Palotie, Aarno; Freimer, Nelson B.; Palotie, Leena.

In: Human Molecular Genetics, Vol. 20, No. 13, 2011, p. 2686-2695.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Phenotype mining in CNV carriers from a population cohort

AU - Pietilainen, Olli P. H.

AU - Rehnstrom, Karola

AU - Jakkula, Eveliina

AU - Service, Susan K.

AU - Congdon, Eliza

AU - Tilgmann, Carola

AU - Hartikainen, Anna-Liisa

AU - Taanila, Anja

AU - Heikura, Ulla

AU - Paunio, Tiina

AU - Ripatti, Samuli

AU - Jarvelin, Marjo-Riitta

AU - Isohanni, Matti

AU - Sabatti, Chiara

AU - Palotie, Aarno

AU - Freimer, Nelson B.

AU - Palotie, Leena

PY - 2011

Y1 - 2011

KW - 1966 BIRTH COHORT

KW - COPY NUMBER VARIATION

KW - WHOLE-GENOME ASSOCIATION

KW - HIDDEN-MARKOV MODEL

KW - SNP GENOTYPING DATA

KW - 28-YEAR FOLLOW-UP

KW - NORTHERN FINLAND

KW - MICRODELETION SYNDROME

KW - MENTAL-RETARDATION

KW - DEVELOPMENTAL DELAY

KW - 3111 Biomedicine

U2 - 10.1093/hmg/ddr162

DO - 10.1093/hmg/ddr162

M3 - Article

VL - 20

SP - 2686

EP - 2695

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 13

ER -

Pietilainen OPH, Rehnstrom K, Jakkula E, Service SK, Congdon E, Tilgmann C et al. Phenotype mining in CNV carriers from a population cohort. Human Molecular Genetics. 2011;20(13):2686-2695. https://doi.org/10.1093/hmg/ddr162