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A. Walne · SciRah

Researcher profile · Semantic Scholar

A. Walne

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A. Walne — researcher profile on SciRah

h-index: 37
Works: 68
Citations: 5,411

Most-cited papers

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
T. Vulliamy, A. Marrone, Richard Szydlo, A. Walne +2 more
2004Nature Genetics481 citations
Semantic Scholar
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
T. Vulliamy, Richard W. Beswick, Michael Kirwan, A. Marrone +3 more
2008Proceedings of the National Academy of Sciences of the United States of America357 citations Open access
Semantic Scholar
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
T. Vulliamy, A. Marrone, S. Knight, A. Walne +2 more
2006Blood354 citations Open access
Semantic Scholar
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
A. Walne, T. Vulliamy, A. Marrone, Richard W. Beswick +5 more
2007Human Molecular Genetics341 citations Open access
Semantic Scholar
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
A. Walne, T. Vulliamy, Richard W. Beswick, Michael Kirwan +1 more
2008Blood331 citations Open access
Semantic Scholar
Inflammatory skin and bowel disease linked to ADAM17 deletion.
D. Blaydon, P. Biancheri, W. Di, V. Plagnol +14 more
2011New England Journal of Medicine304 citations Open access
Semantic Scholar
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
A. Walne, T. Vulliamy, Michael Kirwan, V. Plagnol +1 more
2013American Journal of Human Genetics225 citations Open access
Semantic Scholar
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
H. Tummala, A. Walne, L. Collopy, S. Cardoso +9 more
2015Journal of Clinical Investigation191 citations Open access
Semantic Scholar
Advances in the understanding of dyskeratosis congenita
A. Walne, I. Dokal
2009British Journal of Haematology185 citations Open access
Semantic Scholar
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
A. Marrone, A. Walne, H. Tamary, Yuka Masunari +4 more
2007Blood179 citations Open access
Semantic Scholar
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
J. Blouin, M. Meeks, U. Radhakrishna, A. Sainsbury +18 more
1999European Journal of Human Genetics150 citations
Semantic Scholar
Dyskeratosis congenita: telomerase, telomeres and anticipation.
A. Marrone, A. Walne, I. Dokal
2005Current Opinion in Genetics and Development137 citations
Semantic Scholar
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
T. Vulliamy, A. Walne, A. Baskaradas, P. Mason +2 more
2005Blood Cells, Molecules & Diseases126 citations
Semantic Scholar
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
Michael Kirwan, T. Vulliamy, A. Marrone, A. Walne +10 more
2009Human Mutation119 citations Open access
Semantic Scholar
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
Michael Kirwan, A. Walne, V. Plagnol, M. Velangi +4 more
2012American Journal of Human Genetics117 citations Open access
Semantic Scholar
Mutations in the telomere capping complex in bone marrow failure and related syndromes
A. Walne, Tanya Bhagat, Michael Kirwan, C. Gitiaux +5 more
2013Haematologica115 citations Open access
Semantic Scholar
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
H. Tummala, A. Walne, Mike Williams, N. Bockett +12 more
2016American Journal of Human Genetics114 citations Open access
Semantic Scholar
Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
T. Vulliamy, Michael Kirwan, Richard W. Beswick, Upal Hossain +5 more
2011PLoS ONE108 citations Open access
Semantic Scholar
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
A. Walne, T. Vulliamy, Richard W. Beswick, Michael Kirwan +1 more
2010Human Molecular Genetics103 citations Open access
Semantic Scholar
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
A. Rio-Machin, T. Vulliamy, N. Hug, A. Walne +54 more
2020Nature Communications91 citations Open access
Semantic Scholar
Dyskeratosis Congenita: a historical perspective.
A. Walne, I. Dokal
2008Mechanisms of Ageing and Development91 citations
Semantic Scholar
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
H. Holme, Upal Hossain, Michael Kirwan, A. Walne +2 more
2012British Journal of Haematology90 citations
Semantic Scholar
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
H. Tummala, Michael Kirwan, A. Walne, Upal Hossain +5 more
2014American Journal of Human Genetics78 citations Open access
Semantic Scholar
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
A. Marrone, P. Sokhal, A. Walne, Richard W. Beswick +6 more
2007Haematologica73 citations Open access
Semantic Scholar
A locus for primary ciliary dyskinesia maps to chromosome 19q
M. Meeks, A. Walne, S. Spiden, H. Simpson +11 more
2000Journal of Medical Genetics66 citations Open access
Semantic Scholar
The biology and management of dyskeratosis congenita and related disorders of telomeres
H. Tummala, A. Walne, I. Dokal
2022Expert Review of Hematology63 citations Open access
Semantic Scholar
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
S. Cardoso, G. Ryan, A. Walne, A. Ellison +11 more
2016Leukemia62 citations Open access
Semantic Scholar
Haematological recovery in dyskeratosis congenita patients treated with danazol
A. Islam, Shafquat Rafiq, Michael Kirwan, A. Walne +3 more
2013British Journal of Haematology62 citations Open access
Semantic Scholar
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
L. Collopy, A. Walne, S. Cardoso, J. de la Fuente +9 more
2015Blood56 citations Open access
Semantic Scholar
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
A. Walne, L. Collopy, S. Cardoso, A. Ellison +14 more
2016Haematologica51 citations Open access
Semantic Scholar
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
A. Walne, Arran D. Dokal, V. Plagnol, Richard W. Beswick +4 more
2012Haematologica51 citations Open access
Semantic Scholar
Dyskeratosis Congenita: A Disorder of Defective Telomere Maintenance?
A. Walne, A. Marrone, I. Dokal
2005International journal of hematology47 citations
Semantic Scholar
The Measurement of Pyridinium Crosslinks: A Methodological Overview
I. James, A. Walne, David Perrett
1996Annals of Clinical Biochemistry43 citations
Semantic Scholar
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
T. Vulliamy, Richard W. Beswick, Michael Kirwan, Upal Hossain +2 more
2012Clinical Genetics40 citations Open access
Semantic Scholar
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
Michael Kirwan, Richard W. Beswick, T. Vulliamy, A. Nathwani +3 more
2009British Journal of Haematology39 citations
Semantic Scholar
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
H. Tummala, Arran D. Dokal, A. Walne, A. Ellison +19 more
2018Proceedings of the National Academy of Sciences of the United States of America37 citations Open access
Semantic Scholar
Dyskeratosis congenita and the DNA damage response
Michael Kirwan, Richard W. Beswick, A. Walne, Upal Hossain +3 more
2011British Journal of Haematology37 citations Open access
Semantic Scholar
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
K. Norris, A. Walne, Mark J. Ponsford, K. Cleal +6 more
2021Human Genetics34 citations Open access
Semantic Scholar
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
H. Tummala, A. Walne, M. Badat, Manthan Patel +21 more
2024EMBO Molecular Medicine28 citations Open access
Semantic Scholar
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
H. Tummala, A. Walne, R. Buccafusca, Jenna Alnajar +13 more
2022American Journal of Human Genetics28 citations Open access
Semantic Scholar
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
H. Tummala, L. Collopy, A. Walne, A. Ellison +12 more
2018Blood26 citations Open access
Semantic Scholar
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
S. Cardoso, A. Ellison, A. Walne, D. Cassiman +11 more
2017Haematologica25 citations Open access
Semantic Scholar
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease
A. Walne, H. Tummala, A. Ellison, S. Cardoso +4 more
2018Haematologica21 citations Open access
Semantic Scholar
The stability of pyridinium crosslinks in urine and serum.
A. Walne, I. James, D. Perrett
1995Clinica chimica acta; international journal of clinical chemistry20 citations
Semantic Scholar
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders
Christopher M. Sande, Stone Chen, Dana V. Mitchell, Ping Lin +47 more
2025Journal of Clinical Investigation17 citations Open access
Semantic Scholar
Polygenic modifiers impact penetrance and expressivity in telomere biology disorders
Michael Poeschla, U. Arora, A. Walne, L. McReynolds +8 more
2025Journal of Clinical Investigation12 citations Open access
Semantic Scholar
Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4
L. Collopy, A. Walne, T. Vulliamy, I. Dokal
2014Haematologica12 citations Open access
Semantic Scholar
Automated solid-phase extraction with high-performance liquid chromatography analysis of pyridinium crosslinks.
I. James, A. Walne, David Perrett
1996Analytical Biochemistry11 citations
Semantic Scholar
Pyridinium crosslinks in the monitoring of patients with bone metastases from carcinoma of the breast.
A. Walne, P. Jenkins, I. James, P. N. Plowman
1997Clinics in oncology10 citations
Semantic Scholar
Acquired somatic variants in inherited myeloid malignancies
H. Armes, A. Rio-Machin, S. Krizsán, C. Bödör +10 more
2022Leukemia9 citations Open access
Semantic Scholar

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I. Dokal×42
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I. Dokal — researcher profile on SciRah
T. Vulliamy×37
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T. Vulliamy — researcher profile on SciRah
Michael Kirwan×19
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Michael Kirwan — researcher profile on SciRah
H. Tummala×15
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Richard W. Beswick

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A. Marrone — researcher profile on SciRah

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S. Cardoso — researcher profile on SciRah

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V. Plagnol — researcher profile on SciRah

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Upal Hossain×8

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L. Collopy — researcher profile on SciRah

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