Anne Baxendale
Overview
Explore the profile of Anne Baxendale including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
281
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0
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Recent Articles
1.
Croft B, Bird A, Ono M, Eggers S, Bagheri-Fam S, Ryan J, et al.
Clin Genet
. 2022 Nov;
103(3):277-287.
PMID: 36349847
46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male-to-female sex reversal. Around 50% of 46,XY DSD...
2.
Brett G, Martyn M, Lynch F, de Silva M, Ayres S, Gallacher L, et al.
Genet Med
. 2020 Jul;
22(12):1976-1985.
PMID: 32719395
Purpose: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Methods: Parents of critically unwell children who participated in a national ultrarapid genomic diagnosis...
3.
Lunke S, Eggers S, Wilson M, Patel C, Barnett C, Pinner J, et al.
JAMA
. 2020 Jun;
323(24):2503-2511.
PMID: 32573669
Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively...
4.
Robevska G, van den Bergen J, Ohnesorg T, Eggers S, Hanna C, Hersmus R, et al.
Hum Mutat
. 2017 Oct;
39(1):124-139.
PMID: 29027299
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel...
5.
Eggers S, Sadedin S, van den Bergen J, Robevska G, Ohnesorg T, Hewitt J, et al.
Genome Biol
. 2016 Dec;
17(1):243.
PMID: 27899157
Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of...
6.
Riley K, Salvemini H, Haan E, Fitzgerald L, Stallard K, Borrie S, et al.
J Genet Couns
. 2016 Jul;
26(1):159-172.
PMID: 27443149
The role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State's public sector...
7.
Kumar R, Corbett M, van Bon B, Gardner A, Woenig J, Jolly L, et al.
Hum Mol Genet
. 2015 Oct;
24(25):7171-81.
PMID: 26443594
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the...