De novo variants in neurodevelopmental disorders with epilepsy

EuroEPINOMICS- RES Consortium, Henrike O. Heyne, Tarja Linnankivi, Aarno Palotie, Mark J. Daly, Anna-Elina Lehesjoki

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftNature Genetics
Volym50
Utgåva7
Sidor (från-till)1048-1058
Antal sidor11
ISSN1061-4036
DOI
StatusPublicerad - jul 2018
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper
  • 1184 Genetik, utvecklingsbiologi, fysiologi

Citera det här

@article{1400a62c9fcd48938e3d4cb7251968bb,
title = "De novo variants in neurodevelopmental disorders with epilepsy",
keywords = "AUTISM SPECTRUM DISORDER, INTELLECTUAL DISABILITY, KCNQ2 ENCEPHALOPATHY, SEQUENCE VARIANTS, ILAE COMMISSION, HUMAN-DISEASE, MUTATIONS, CLASSIFICATION, TERMINOLOGY, PREVALENCE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "{EuroEPINOMICS- RES Consortium} and Heyne, {Henrike O.} and Tarjinder Singh and Hannah Stamberger and {Abou Jamra}, Rami and Hande Caglayan and Dana Craiu and {De Jonghe}, Peter and Renzo Guerrini and Helbig, {Katherine L.} and Koeleman, {Bobby P. C.} and Kosmicki, {Jack A.} and Tarja Linnankivi and Patrick May and Hiltrud Muhle and Moller, {Rikke S.} and Neubauer, {Bernd A.} and Aarno Palotie and Manuela Pendziwiat and Pasquale Striano and Sha Tang and Sitao Wu and Annapurna Poduri and Weber, {Yvonne G.} and Sarah Weckhuysen and Sisodiya, {Sanjay M.} and Daly, {Mark J.} and Ingo Helbig and Dennis Lal and Lemke, {Johannes R.} and Anna-Elina Lehesjoki",
year = "2018",
month = "7",
doi = "10.1038/s41588-018-0143-7",
language = "English",
volume = "50",
pages = "1048--1058",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",

}

De novo variants in neurodevelopmental disorders with epilepsy. / EuroEPINOMICS- RES Consortium; Heyne, Henrike O.; Linnankivi, Tarja; Palotie, Aarno; Daly, Mark J.; Lehesjoki, Anna-Elina.

I: Nature Genetics, Vol. 50, Nr. 7, 07.2018, s. 1048-1058.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - De novo variants in neurodevelopmental disorders with epilepsy

AU - EuroEPINOMICS- RES Consortium

AU - Heyne, Henrike O.

AU - Singh, Tarjinder

AU - Stamberger, Hannah

AU - Abou Jamra, Rami

AU - Caglayan, Hande

AU - Craiu, Dana

AU - De Jonghe, Peter

AU - Guerrini, Renzo

AU - Helbig, Katherine L.

AU - Koeleman, Bobby P. C.

AU - Kosmicki, Jack A.

AU - Linnankivi, Tarja

AU - May, Patrick

AU - Muhle, Hiltrud

AU - Moller, Rikke S.

AU - Neubauer, Bernd A.

AU - Palotie, Aarno

AU - Pendziwiat, Manuela

AU - Striano, Pasquale

AU - Tang, Sha

AU - Wu, Sitao

AU - Poduri, Annapurna

AU - Weber, Yvonne G.

AU - Weckhuysen, Sarah

AU - Sisodiya, Sanjay M.

AU - Daly, Mark J.

AU - Helbig, Ingo

AU - Lal, Dennis

AU - Lemke, Johannes R.

AU - Lehesjoki, Anna-Elina

PY - 2018/7

Y1 - 2018/7

KW - AUTISM SPECTRUM DISORDER

KW - INTELLECTUAL DISABILITY

KW - KCNQ2 ENCEPHALOPATHY

KW - SEQUENCE VARIANTS

KW - ILAE COMMISSION

KW - HUMAN-DISEASE

KW - MUTATIONS

KW - CLASSIFICATION

KW - TERMINOLOGY

KW - PREVALENCE

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41588-018-0143-7

DO - 10.1038/s41588-018-0143-7

M3 - Article

VL - 50

SP - 1048

EP - 1058

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 7

ER -