Author details

Full Name

Andrea Haworth

Affiliation

UCL Queen Square Institute of Neurology

ORCID

Career Start Year

1989

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34716203	Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinity.	Cold Spring Harb Mol Case Stud	2022
34529042	Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.	Brain	2022
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
33567347	Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.	Eur J Med Genet	2021
32532879	Early-onset cerebellar ataxia in a patient with CMT2A2.	Cold Spring Harb Mol Case Stud	2020
31910817	Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.	BMC Med Genet	2020
32415735	Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.	Clin Genet	2020
31387860	<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.	Cold Spring Harb Mol Case Stud	2019
26912519	In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.	Brain	2016
24363131	C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.	Neurology	2014
23516313	Prevalence study of genetically defined skeletal muscle channelopathies in England.	Neurology	2013
22649220	A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.	Neurology	2012
23152584	New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.	Neurology	2012
22689585	The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.	Hum Mutat	2012
21387378	Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.	Ann Neurol	2011
22094484	Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.	Neurology	2011
21630033	Call for participation in the neurogenetics consortium within the Human Variome Project.	Neurogenetics	2011
21287604	An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.	Mov Disord	2011
19118277	Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.	Neurology	2009
18166706	What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.	Neurology	2008
17932099	Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.	Brain	2007
15947063	The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.	Brain	2005
10886182	Delayed onset of cutaneous symptoms in erythropoietic protoporphyria.	Br J Dermatol	2000
9615731	The mutation status of PAX3 and p53 genes in medulloblastoma.	Anticancer Res	1998
9482579	Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).	Hum Mutat	1998
9083763	Cystic fibrosis mutations in Romania.	Eur J Pediatr	1997
9222762	SSCP analysis: a blind sensitivity trial.	Hum Mutat	1997
8606890	Active cascade cystic fibrosis screening.	Prenat Diagn	1995
8680406	Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.	Hum Mutat	1995
7950637	Screening for cystic fibrosis. Should begin with cascade screening.	BMJ	1994
21559597	PCR amplification of 40-year-old paraffin-embedded tumor-tissues - comparison of 4 different DNA extraction and purification methods.	Int J Oncol	1994
8019278	Active cascade testing for carriers of cystic fibrosis gene.	BMJ	1994
2104910	Differential expression of the HLA class I multigene family by human embryonal carcinoma and choriocarcinoma cell lines.	J Immunol	1990
2639910	Novel human MHC class I genes are expressed by tumour cell lines representing embryonic and extraembryonic tissues.	J Immunogenet	1989

1 - 34 of 34

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 6

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 6

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 0

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 2

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 23

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 40

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 2

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Career Start Year 1998

Number of shared co-authors 30

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 5

Mark R Davis

QEII Medical Centre, Hospital Avenue

Career Start Year 1996

Number of shared co-authors 9

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 30

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 1

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 15

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 5

Rafa?? P??oski

Medical University of Warsaw

Career Start Year 1992

Number of shared co-authors 12

Ada Hamosh

Johns Hopkins University School of Medicine

Career Start Year 1991

Number of shared co-authors 27

Patrick J Morrison

Belfast City Hospital

Career Start Year 1989

Number of shared co-authors 24

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 28

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 15

Hubert J M Smeets

Maastricht University Medical Centre+

Career Start Year 1987

Number of shared co-authors 9

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 34

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 14

Irenaeus F M de Coo

Unit Clinical Genomics, Maastricht University

Career Start Year 1982

Number of shared co-authors 13

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 26

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 5

Guy A Rouleau

McGill University, Canada Montreal Neurological Institute and Hospital

Career Start Year 1981

Number of shared co-authors 17

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 6

Enrico Bertini

IRCCS Bambino Gesu Children's Research Hospital

Career Start Year 1978

Number of shared co-authors 18

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 3

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 23

row(s) 1 - 30 of 30

Henry Houlden

Institute of Neurology, University College London (UCL)

Co-authored papers 4

James M Polke

National Hospital for Neurology and Neurosurgery

Co-authored papers 3

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Co-authored papers 3

Nicholas W Wood

UCL Queen Square Institute of Neurology

Co-authored papers 3

Patrick F Chinnery

School of Clinical Medicine, University of Cambridge

Co-authored papers 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Rita Horvath

School of Clinical Medicine, University of Cambridge

Co-authored papers 1

Janice Yip

Co-authored papers 1

Eleanor Dewhurst

University of Cambridge

Co-authored papers 1

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 1