Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Irma Järvelä; Tuomo Määttä; Anushree Acharya; Juha Leppälä; Shalini N. Jhangiani; Maria Arvio; Auli Siren; Minna Kankuri-Tammilehto; Hannaleena Kokkonen; Maarit Palomäki; Teppo Varilo; Mary Fang; Trevor D. Hadley; Angad Jolly; Tarja Linnankivi; Ritva Paetau; Anni Saarela; Reetta Kälviäinen; Jan Olme; Liz M. Nouel-Saied; Diana M. Cornejo-Sanchez; Lorida Llaci; James R. Lupski; Jennifer E. Posey; Suzanne M. Leal; Isabelle Schrauwen

doi:10.1007/s00439-021-02268-1

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Irma Järvelä
, Tuomo Määttä
, Anushree Acharya
, Juha Leppälä
, Shalini N. Jhangiani
, Maria Arvio
, Auli Siren
, Minna Kankuri-Tammilehto
, Hannaleena Kokkonen
, Maarit Palomäki
, Teppo Varilo
, Mary Fang
, Trevor D. Hadley
, Angad Jolly
, Tarja Linnankivi
, Ritva Paetau
, Anni Saarela
, Reetta Kälviäinen
, Jan Olme
, Liz M. Nouel-Saied

Diana M. Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E. Posey, Suzanne M. Leal, Isabelle Schrauwen

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

Original language	English
Journal	Human Genetics
Volume	140
Issue number	7
Pages (from-to)	1011-1029
Number of pages	19
ISSN	0340-6717
DOIs	https://doi.org/10.1007/s00439-021-02268-1
Publication status	Published - Jul 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1007/s00439-021-02268-1

Järvelä2021_Article_ExomeSequencingRevealsPredominFinal published version, 697 KBLicence: CC BY

Cite this

Järvelä, I., Määttä, T., Acharya, A., Leppälä, J., Jhangiani, S. N., Arvio, M., Siren, A., Kankuri-Tammilehto, M., Kokkonen, H., Palomäki, M., Varilo, T., Fang, M., Hadley, T. D., Jolly, A., Linnankivi, T., Paetau, R., Saarela, A., Kälviäinen, R., Olme, J., ... Schrauwen, I. (2021). Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human Genetics, 140(7), 1011-1029. https://doi.org/10.1007/s00439-021-02268-1

@article{0b07537e1b25485a80471badb4be641d,

title = "Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Irma J{\"a}rvel{\"a} and Tuomo M{\"a}{\"a}tt{\"a} and Anushree Acharya and Juha Lepp{\"a}l{\"a} and Jhangiani, \{Shalini N.\} and Maria Arvio and Auli Siren and Minna Kankuri-Tammilehto and Hannaleena Kokkonen and Maarit Palom{\"a}ki and Teppo Varilo and Mary Fang and Hadley, \{Trevor D.\} and Angad Jolly and Tarja Linnankivi and Ritva Paetau and Anni Saarela and Reetta K{\"a}lvi{\"a}inen and Jan Olme and Nouel-Saied, \{Liz M.\} and Cornejo-Sanchez, \{Diana M.\} and Lorida Llaci and Lupski, \{James R.\} and Posey, \{Jennifer E.\} and Leal, \{Suzanne M.\} and Isabelle Schrauwen",

year = "2021",

month = jul,

doi = "10.1007/s00439-021-02268-1",

language = "English",

volume = "140",

pages = "1011--1029",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "7",

}

Järvelä, I, Määttä, T, Acharya, A, Leppälä, J, Jhangiani, SN, Arvio, M, Siren, A, Kankuri-Tammilehto, M, Kokkonen, H, Palomäki, M , Varilo, T, Fang, M, Hadley, TD, Jolly, A, Linnankivi, T , Paetau, R, Saarela, A, Kälviäinen, R, Olme, J, Nouel-Saied, LM, Cornejo-Sanchez, DM, Llaci, L, Lupski, JR, Posey, JE, Leal, SM & Schrauwen, I 2021, 'Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland', Human Genetics, vol. 140, no. 7, pp. 1011-1029. https://doi.org/10.1007/s00439-021-02268-1

TY - JOUR

T1 - Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

AU - Järvelä, Irma

AU - Määttä, Tuomo

AU - Acharya, Anushree

AU - Leppälä, Juha

AU - Jhangiani, Shalini N.

AU - Arvio, Maria

AU - Siren, Auli

AU - Kankuri-Tammilehto, Minna

AU - Kokkonen, Hannaleena

AU - Palomäki, Maarit

AU - Varilo, Teppo

AU - Fang, Mary

AU - Hadley, Trevor D.

AU - Jolly, Angad

AU - Linnankivi, Tarja

AU - Paetau, Ritva

AU - Saarela, Anni

AU - Kälviäinen, Reetta

AU - Olme, Jan

AU - Nouel-Saied, Liz M.

AU - Cornejo-Sanchez, Diana M.

AU - Llaci, Lorida

AU - Lupski, James R.

AU - Posey, Jennifer E.

AU - Leal, Suzanne M.

AU - Schrauwen, Isabelle

PY - 2021/7

Y1 - 2021/7

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1007/s00439-021-02268-1

DO - 10.1007/s00439-021-02268-1

M3 - Article

SN - 0340-6717

VL - 140

SP - 1011

EP - 1029

JO - Human Genetics

JF - Human Genetics

IS - 7

ER -