A. Walne

PROFILE

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Aliases
Amanda Walne, A. Walne, Amanda J. Walne, Amanda J Walne, A J Walne
Publication record
67 papers · 5,106 citations · H-index 36

PAPERS

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders
20255 citationsauthor #3
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders
20257 citationsauthor #35
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
20240 citationsauthor #2
Polygenic modifiers of expressivity in telomere biology disorders
20240 citationsauthor #3
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
202418 citationsauthor #2
DNA Damage Response Constrains Cell Growth and Drives Clonal Hematopoiesis in Telomere Biology Disorders
20233 citationsauthor #23
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
202220 citationsauthor #2
The biology and management of dyskeratosis congenita and related disorders of telomeres
202252 citationsauthor #2
Acquired somatic variants in inherited myeloid malignancies
20228 citationsauthor #8
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
202126 citationsauthor #2
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
20214 citationsauthor #1
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
202089 citationsauthor #4
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
20203 citationsauthor #2
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
201837 citationsauthor #3
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
201824 citationsauthor #3
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease
201819 citationsauthor #1
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
201723 citationsauthor #3
Myelodysplasia and liver disease extend the spectrum of RTEL 1 Version 3 HAEMATOL / 2017 / 167056
20170 citationsauthor #17
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
201661 citationsauthor #3
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
2016108 citationsauthor #2
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
201647 citationsauthor #1
Long tails, short telomeres: Dyskeratosis congenita
20155 citationsauthor #2
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
2015182 citationsauthor #2
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
201551 citationsauthor #2
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
201472 citationsauthor #3
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
201412 citationsauthor #2
Mutations in the telomere capping complex in bone marrow failure and related syndromes
2013113 citationsauthor #1
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
2013225 citationsauthor #1
Haematological recovery in dyskeratosis congenita patients treated with danazol
201360 citationsauthor #4
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
201286 citationsauthor #4
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
201251 citationsauthor #1
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
201241 citationsauthor #5
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
2012115 citationsauthor #2
Dyskeratosis congenita and the DNA damage response
201137 citationsauthor #3
Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
2011102 citationsauthor #8
Inflammatory skin and bowel disease linked to ADAM17 deletion.
2011293 citationsauthor #10
the diversity of clinical presentation Mutations in dyskeratosis congenita: their impact on telomere length and
20111 citationsauthor #4
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
2010101 citationsauthor #1
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
2009119 citationsauthor #4
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
200937 citationsauthor #5
Advances in the understanding of dyskeratosis congenita
2009184 citationsauthor #1
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
2008356 citationsauthor #6
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
2008325 citationsauthor #1
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
20088 citationsauthor #4
Defective Telomerase in Familial Myelodysplasia and Leukemia
20080 citationsauthor #3
Dyskeratosis Congenita: a historical perspective.
200890 citationsauthor #1
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
2007337 citationsauthor #1
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
200773 citationsauthor #3
Treatment of Tuberculosis in HIV-infected Patients: We Need to Know More
20073 citationsauthor #3
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
2007177 citationsauthor #2
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
2006348 citationsauthor #4
Dyskeratosis Congenita: A Disorder of Defective Telomere Maintenance?
200546 citationsauthor #1
Dyskeratosis congenita: telomerase, telomeres and anticipation.
2005137 citationsauthor #2
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
2005128 citationsauthor #2
Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15.
20051 citationsauthor #1
The Genetic and Phenotypic Diversity of Dyskeratosis Congenita.
20046 citationsauthor #3
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
2004476 citationsauthor #4
Telomerase dysfunction and dyskeratosis congenita
20045 citationsauthor #1
A locus for primary ciliary dyskinesia maps to chromosome 19q (vol 37, pg 241, 2000)
20010 citationsauthor #2
A genome wide scan reveals a putative locus for primary ciliary dyskinesia (PCD) in the Faeroe Island population
20011 citationsauthor #4
A locus for primary ciliary dyskinesia maps to chromosome 19q
200067 citationsauthor #2
Identification of a locus for primary ciliary dyskinesia on chromosome 19
20000 citationsauthor #3
Identification of a locus for primary ciliary dyskinesia (PCD; Kartagener syndrome) on chromosome 19.
19990 citationsauthor #2
Pyridinium crosslinks in the monitoring of patients with bone metastases from carcinoma of the breast.
199710 citationsauthor #1
The Measurement of Pyridinium Crosslinks: A Methodological Overview
199643 citationsauthor #2
Automated solid-phase extraction with high-performance liquid chromatography analysis of pyridinium crosslinks.
199611 citationsauthor #2
The stability of pyridinium crosslinks in urine and serum.
199520 citationsauthor #1

TIMELINE

1995 20 citations

1996 54 citations

1997 10 citations

1999 0 citations

2000 67 citations

2001 1 citations

2004 487 citations

2005 312 citations

2006 348 citations

2007 590 citations

2008 779 citations

2009 340 citations

2010 101 citations

2011 433 citations

2012 293 citations

2013 398 citations

2014 84 citations

2015 238 citations

2016 216 citations

2017 23 citations

2018 80 citations

2020 92 citations

2021 30 citations

2022 80 citations

2023 3 citations

2024 18 citations

2025 12 citations

A. Walne

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