Rapid whole exome sequencing to identify the underlying genetic cause in fetuses with sonographic anomalies

被引：0

作者：

Feenstra, I. ^{[1
]}

Deden, A. C. ^{[2
]}

Nelen, M. I. ^{[1
]}

Neveling, K. ^{[1
]}

Castelein, S. ^{[3
]}

Gilissen, C. F. ^{[3
]}

Pfundt, R. P. ^{[4
]}

Elting, M. W. ^{[5
]}

Rinne, T. K. ^{[4
]}

Diderich, K. E. ^{[6
]}

Sallevelt, S. C. ^{[7
]}

Corsten-Janssen, N. ^{[8
]}

Lichtenbelt, K. D. ^{[9
]}

Gardeitchik, T. ^{[4
]}

Vissers, L. ^{[4
]}

Yntema, H. G. ^{[4
]}

van Zelst-Stams, W. A. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Dept Human Genet, Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands

[5] Amsterdam Med Univ, Dept Genet, Amsterdam, Netherlands

[6] Erasmus MC, Dept Genet, Rotterdam, Netherlands

[7] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[8] Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[9] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P01.68D

引用

页码：1203 / 1203

页数：1

共 50 条

[41] USE OF WHOLE EXOME SEQUENCING TO IDENTIFY RARE GENETIC SYNDROMES MIMICKING ANOREXIA NERVOSA
Lutter, Michael
NEUROPSYCHOPHARMACOLOGY, 2024, 49 : 300 - 301
[42] Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism
Cunha, Marisa L. R.
Meijers, Joost C. M.
Rosendaal, Frits R.
Vlieg, Astrid van Hylckama
Reitsma, Pieter H.
Middeldorp, Saskia
PLOS ONE, 2017, 12 (11):
[43] Leveraging Hyperserotonemia and Whole Exome Sequencing in Autism Families to Identify Genetic Risk Factors
Sutcliffe, James S.
Campbell, Nicholas
Crawford, Emily L.
Li, Bingshan
Davis, Lea K.
Cox, Nancy J.
Cook, Edwin H.
NEUROPSYCHOPHARMACOLOGY, 2013, 38 : S494 - S495
[44] The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants
Theisen, J. Graham
Sundaram, Viji
Filchak, Mary S.
Chorich, Lynn P.
Sullivan, Megan E.
Knight, James
Kim, Hyung-Goo
Layman, Lawrence C.
SCIENTIFIC REPORTS, 2019, 9 (1)
[45] Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing
Khan, Imran
Isik, Esra Busra
Mahfooz, Sadaf
Khan, Asif M.
Hatiboglu, Mustafa Aziz
DIAGNOSTICS, 2023, 13 (06)
[46] Genome Analysis With Whole Exome Sequencing to Identify Genetic Alterations in Patients With Idiopathic Pancreatitis
Lee, J. K.
Hyun, J. J.
Moon, J. H.
Jeon, T. J.
Paik, W. H.
Son, B. K.
Lee, S. H.
Lee, K. H.
Jang, D. K.
Park, C. W.
PANCREAS, 2019, 48 (10) : 1472 - 1472
[47] The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants
J. Graham Theisen
Viji Sundaram
Mary S. Filchak
Lynn P. Chorich
Megan E. Sullivan
James Knight
Hyung-Goo Kim
Lawrence C. Layman
Scientific Reports, 9
[48] USING WHOLE EXOME SEQUENCING TO IDENTIFY GENETIC CANDIDATES FOR CARBOPLATIN AND GEMCITABINE INDUCED TOXICITIES
Hasmats, J.
Green, H.
ANNALS OF ONCOLOGY, 2012, 23 : 15 - 16
[49] Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
Zhi, Y.
Liu, L.
Wang, H.
Chen, X.
Lv, Y.
Cui, X.
Chang, H.
Wang, Y.
Cui, S.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2023, 62 (05) : 721 - 726
[50] Whole Exome Sequencing to Identify Genes Associated with Hypertension
Tayo, Bamidele O.
Salako, Babatunde
Luke, Amy
Zhu, Xiaofeng
Ogunniyi, Adesola
Cooper, Richard S.
GENETIC EPIDEMIOLOGY, 2012, 36 (07) : 743 - 743

← 1 2 3 4 5 →