Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis

被引：3

作者：

Chitty, Lyn S. ^{[1
,2
]}

van den Veyver, Ignatia B. ^{[3
,4
,5
]}

机构：

[1] Great Ormond St NHS Fdn Trust, North Thames Genom Lab Hub, London, England

[2] UCL Great Ormond St Inst Child Hlth, Genet & Genom, London, England

[3] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

PRENATAL DIAGNOSIS | 2022年 / 42卷 / 12期

关键词：

D O I：

10.1002/pd.6252

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1479 / 1480

页数：2

共 16 条

[1] Lessons learnt from prenatal exome sequencing [J].

Chandler, Natalie J. ;

Scotchman, Elizabeth ;

Mellis, Rhiannon ;

Ramachandran, Vijaya ;

Roberts, Rowenna ;

Chitty, Lyn S. .

PRENATAL DIAGNOSIS, 2022, 42 (07) :831-844

[2]

Ellard S., 2017, ACGS Best Practice Guidelines for Variant Classification 2017

[3] The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration COMMENT [J].

Giordano, Jessica L. ;

Wapner, Ronald J. .

PRENATAL DIAGNOSIS, 2022, 42 (07) :807-810

[4]

Horton-Bell M., 2022, PRENAT DIAGN, P42

[5]

Kurolap A., 2022, PRENAT DIAGN, P42

[6] ClinVar: improvements to accessing data [J].

Landrum, Melissa J. ;

Chitipiralla, Shanmuga ;

Brown, Garth R. ;

Chen, Chao ;

Gu, Baoshan ;

Hart, Jennifer ;

Hoffman, Douglas ;

Jang, Wonhee ;

Kaur, Kuljeet ;

Liu, Chunlei ;

Lyoshin, Vitaly ;

Maddipatla, Zenith ;

Maiti, Rama ;

Mitchell, Joseph ;

O'Leary, Nuala ;

Riley, George R. ;

Shi, Wenyao ;

Zhou, George ;

Schneider, Valerie ;

Maglott, Donna ;

Holmes, J. Bradley ;

Kattman, Brandi L. .

NUCLEIC ACIDS RESEARCH, 2020, 48 (D1) :D835-D844

[7] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study [J].

Lord, Jenny ;

McMullan, Dominic J. ;

Eberhardt, Ruth Y. ;

Rinck, Gabriele ;

Hamilton, Susan J. ;

Quinlan-Jones, Elizabeth ;

Prigmore, Elena ;

Keelagher, Rebecca ;

Best, Sunayna K. ;

Carey, Georgina K. ;

Mellis, Rhiannon ;

Robart, Sarah ;

Berry, Ian R. ;

Chandler, Kate E. ;

Cilliers, Deirdre ;

Cresswell, Lara ;

Edwards, Sandra L. ;

Gardiner, Carol ;

Henderson, Alex ;

Holden, Simon T. ;

Homfray, Tessa ;

Lester, Tracy ;

Lewis, Rebecca A. ;

Newbury-Ecob, Ruth ;

Prescott, Katrina ;

Quarrell, Oliver W. ;

Ramsden, Simon C. ;

Roberts, Eileen ;

Tapon, Dagmar ;

Tooley, Madeleine J. ;

Vasudevan, Pradeep C. ;

Weber, Astrid P. ;

Wellesley, Diana G. ;

Westwood, Paul ;

White, Helen ;

Parker, Michael ;

Williams, Denise ;

Jenkins, Lucy ;

Scott, Richard H. ;

Kilby, Mark D. ;

Chitty, Lyn S. ;

Hurles, Matthew E. ;

Maher, Eamonn R. ;

Bateman, Mark ;

Campbell, Carolyn ;

Campbell, Jenni ;

Carey, Georgina ;

Cohen, Kelly ;

Collingwood, Emma ;

Constantinou, Panayiotis .

LANCET, 2019, 393 (10173) :747-757

[8] Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? [J].

Mellis, R. ;

Eberhardt, R. Y. ;

Hamilton, S. J. ;

McMullan, D. J. ;

Kilby, M. D. ;

Maher, E. R. ;

Hurles, M. E. ;

Giordano, J. L. ;

Aggarwal, V ;

Goldstein, D. B. ;

Wapner, R. J. ;

Chitty, L. S. .

BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2022, 129 (01) :52-61

[9] Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis [J].

Mellis, Rhiannon ;

Oprych, Kathryn ;

Scotchman, Elizabeth ;

Hill, Melissa ;

Chitty, Lyn S. .

PRENATAL DIAGNOSIS, 2022, 42 (06) :662-685

[10] Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study [J].

Mone, F. ;

Abu Subieh, H. ;

Doyle, S. ;

Hamilton, S. ;

McMullan, D. J. ;

Allen, S. ;

Marton, T. ;

Williams, D. ;

Kilby, M. D. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 59 (06) :723-730

← 1 2 →