Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hye Ran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S. Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadkei, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs & 15 andra Grant S. Stewart, Eunyoung Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A. Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han-Woong Lee, Yonghwan Kim, Tae-Joon Cho

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftAmerican Journal of Human Genetics
Volym104
Utgåva3
Sidor (från-till)439-453
Antal sidor15
ISSN0002-9297
DOI
StatusPublicerad - 7 mar 2019
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 1184 Genetik, utvecklingsbiologi, fysiologi
  • 3111 Biomedicinska vetenskaper

Citera det här

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., ... Cho, T-J. (2019). Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. American Journal of Human Genetics, 104(3), 439-453. https://doi.org/10.1016/j.ajhg.2019.01.009
Chang, Hae Ryung ; Cho, Sung Yoon ; Lee, Jae Hoon ; Lee, Eunkyung ; Seo, Jieun ; Lee, Hye Ran ; Cavalcanti, Denise P. ; Mäkitie, Outi ; Valta, Helena ; Girisha, Katta M. ; Lee, Chung ; Neethukrishna, Kausthubham ; Bhavani, Gandham S. ; Shukla, Anju ; Nampoothiri, Sheela ; Phadkei, Shubha R. ; Park, Mi Jung ; Ikegawa, Shiro ; Wang, Zheng ; Higgs, Martin R. ; Stewart, Grant S. ; Jung, Eunyoung ; Lee, Myeong-Sok ; Park, Jong Hoon ; Lee, Eun A. ; Kim, Hongtae ; Myung, Kyungjae ; Jeon, Woosung ; Lee, Kyoungyeul ; Kim, Dongsup ; Kim, Ok-Hwa ; Choi, Murim ; Lee, Han-Woong ; Kim, Yonghwan ; Cho, Tae-Joon. / Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. I: American Journal of Human Genetics. 2019 ; Vol. 104, Nr. 3. s. 439-453.
@article{37c48188cb3441f2a482ac1040a17351,
title = "Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia",
keywords = "MMS22L-NFKBIL2 COMPLEX, MMS22L-TONSL COMPLEX, DNA-REPLICATION, REPAIR, STRESS, GENE, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",
author = "Chang, {Hae Ryung} and Cho, {Sung Yoon} and Lee, {Jae Hoon} and Eunkyung Lee and Jieun Seo and Lee, {Hye Ran} and Cavalcanti, {Denise P.} and Outi M{\"a}kitie and Helena Valta and Girisha, {Katta M.} and Chung Lee and Kausthubham Neethukrishna and Bhavani, {Gandham S.} and Anju Shukla and Sheela Nampoothiri and Phadkei, {Shubha R.} and Park, {Mi Jung} and Shiro Ikegawa and Zheng Wang and Higgs, {Martin R.} and Stewart, {Grant S.} and Eunyoung Jung and Myeong-Sok Lee and Park, {Jong Hoon} and Lee, {Eun A.} and Hongtae Kim and Kyungjae Myung and Woosung Jeon and Kyoungyeul Lee and Dongsup Kim and Ok-Hwa Kim and Murim Choi and Han-Woong Lee and Yonghwan Kim and Tae-Joon Cho",
year = "2019",
month = "3",
day = "7",
doi = "10.1016/j.ajhg.2019.01.009",
language = "English",
volume = "104",
pages = "439--453",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",

}

Chang, HR, Cho, SY, Lee, JH, Lee, E, Seo, J, Lee, HR, Cavalcanti, DP, Mäkitie, O, Valta, H, Girisha, KM, Lee, C, Neethukrishna, K, Bhavani, GS, Shukla, A, Nampoothiri, S, Phadkei, SR, Park, MJ, Ikegawa, S, Wang, Z, Higgs, MR, Stewart, GS, Jung, E, Lee, M-S, Park, JH, Lee, EA, Kim, H, Myung, K, Jeon, W, Lee, K, Kim, D, Kim, O-H, Choi, M, Lee, H-W, Kim, Y & Cho, T-J 2019, 'Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia' American Journal of Human Genetics, vol. 104, nr. 3, s. 439-453. https://doi.org/10.1016/j.ajhg.2019.01.009

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. / Chang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; Mäkitie, Outi; Valta, Helena; Girisha, Katta M.; Lee, Chung; Neethukrishna, Kausthubham; Bhavani, Gandham S.; Shukla, Anju; Nampoothiri, Sheela; Phadkei, Shubha R.; Park, Mi Jung; Ikegawa, Shiro; Wang, Zheng; Higgs, Martin R.; Stewart, Grant S.; Jung, Eunyoung; Lee, Myeong-Sok; Park, Jong Hoon; Lee, Eun A.; Kim, Hongtae; Myung, Kyungjae; Jeon, Woosung; Lee, Kyoungyeul; Kim, Dongsup; Kim, Ok-Hwa; Choi, Murim; Lee, Han-Woong; Kim, Yonghwan; Cho, Tae-Joon.

I: American Journal of Human Genetics, Vol. 104, Nr. 3, 07.03.2019, s. 439-453.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

AU - Chang, Hae Ryung

AU - Cho, Sung Yoon

AU - Lee, Jae Hoon

AU - Lee, Eunkyung

AU - Seo, Jieun

AU - Lee, Hye Ran

AU - Cavalcanti, Denise P.

AU - Mäkitie, Outi

AU - Valta, Helena

AU - Girisha, Katta M.

AU - Lee, Chung

AU - Neethukrishna, Kausthubham

AU - Bhavani, Gandham S.

AU - Shukla, Anju

AU - Nampoothiri, Sheela

AU - Phadkei, Shubha R.

AU - Park, Mi Jung

AU - Ikegawa, Shiro

AU - Wang, Zheng

AU - Higgs, Martin R.

AU - Stewart, Grant S.

AU - Jung, Eunyoung

AU - Lee, Myeong-Sok

AU - Park, Jong Hoon

AU - Lee, Eun A.

AU - Kim, Hongtae

AU - Myung, Kyungjae

AU - Jeon, Woosung

AU - Lee, Kyoungyeul

AU - Kim, Dongsup

AU - Kim, Ok-Hwa

AU - Choi, Murim

AU - Lee, Han-Woong

AU - Kim, Yonghwan

AU - Cho, Tae-Joon

PY - 2019/3/7

Y1 - 2019/3/7

KW - MMS22L-NFKBIL2 COMPLEX

KW - MMS22L-TONSL COMPLEX

KW - DNA-REPLICATION

KW - REPAIR

KW - STRESS

KW - GENE

KW - 1184 Genetics, developmental biology, physiology

KW - 3111 Biomedicine

U2 - 10.1016/j.ajhg.2019.01.009

DO - 10.1016/j.ajhg.2019.01.009

M3 - Article

VL - 104

SP - 439

EP - 453

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -