Andrea Haworth
Overview
Explore the profile of Andrea Haworth including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
16
Citations
537
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Smedley D, Smith K, Martin A, Thomas E, McDonagh E, Cipriani V, et al.
N Engl J Med
. 2021 Nov;
385(20):1868-1880.
PMID: 34758253
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of...
2.
Autosomal recessive variants in a proband with a cerebrorenal syndrome and no parental consanguinity
Kleyner R, Arif M, Marchi E, Horowitz N, Haworth A, King B, et al.
Cold Spring Harb Mol Case Stud
. 2021 Oct;
8(2).
PMID: 34716203
An associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it...
3.
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, et al.
Brain
. 2021 Sep;
145(2):607-620.
PMID: 34529042
High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical...
4.
Hall C, Liu B, Haworth A, Reed L, Pryce J, Mansour S
Eur J Med Genet
. 2021 Feb;
64(3):104162.
PMID: 33567347
Three sibling fetuses identified with limb shortening and thoracic narrowing at twelve weeks' gestation on first trimester ultrasound examination are presented. The parents were non-consanguineous, Caucasian, healthy, of normal stature...
5.
Madrid R, Guariglia S, Haworth A, Korosh W, Gavin M, Lyon G
Cold Spring Harb Mol Case Stud
. 2020 Jun;
6(3).
PMID: 32532879
A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while...
6.
Cordeddu V, Macke E, Radio F, Lo Cicero S, Pantaleoni F, Tatti M, et al.
Clin Genet
. 2020 May;
98(2):172-178.
PMID: 32415735
UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X-linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations....
7.
Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T
BMC Med Genet
. 2020 Jan;
21(1):7.
PMID: 31910817
Background: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and...
8.
Lyon G, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, et al.
Cold Spring Harb Mol Case Stud
. 2019 Aug;
5(6).
PMID: 31387860
Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis...
9.
Tomlinson S, Tan S, Burke D, Labrum R, Haworth A, Gibbons V, et al.
Brain
. 2016 Feb;
139(Pt 2):380-91.
PMID: 26912519
Ion channel dysfunction causes a range of neurological disorders by altering transmembrane ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal channelopathies affecting peripheral axons provide a unique...
10.
Hensman Moss D, Poulter M, Beck J, Hehir J, Polke J, Campbell T, et al.
Neurology
. 2013 Dec;
82(4):292-9.
PMID: 24363131
Objective: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene...