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Lesley H. Rawlings
Observed names:
L Rawlings,
L. Rawlings,
Lesley H Rawlings,
Lesley Rawlings,
Rawlings, Lesley
Institution:
South Australia Pathology
Observed institutions:
South Australia Pathology,
University of South Australia,
Women's and Children's Hospital,
SA Health,
Centre for Cancer Biology
ORCID:
0000-0002-3782-3938
Observed ORCID:
0000-0002-3782-3938
OpenAlex ID:
A5013517874
The VHL-dependent regulation of microRNAs in renal cancer
2010
·
Calida S Neal
, Michael Z Michael
, et al.
·
BMC Medicine
·
164
PDF
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
2019
·
Xi Luo
, Simone Feurstein
, et al.
·
Blood Advances
·
155
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
2020
·
Anna L. Brown
, Peer Arts
, et al.
·
Blood Advances
·
152
PDF
GATA2 deficiency syndrome: A decade of discovery
2021
·
Claire C. Homan
, Parvathy Venugopal
, et al.
·
Human Mutation
·
74
PDF
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours
2017
·
Sunita M C De Sousa
, Mark J McCabe
, et al.
·
European Journal of Endocrinology
·
45
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
2022
·
Emma Tudini
, James Andrews
, et al.
·
The American Journal of Human Genetics
·
34
PDF
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas
2020
·
Sunita M C De Sousa
, John Toubia
, et al.
·
Journal of the Endocrine Society
·
15
PDF
CDH1 ‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk
2020
·
Shannon LeBlanc
, Dildeepa Naveen
, et al.
·
American Journal of Medical Genetics Part A
·
12
RNF43 pathogenic Germline variant in a family with colorectal cancer
2021
·
Reger R. Mikaeel
, Joanne P. Young
, et al.
·
Clinical Genetics
·
11
A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly
2021
·
Alice P. Rogers
, Kathryn Friend
, et al.
·
American Journal of Medical Genetics Part A
·
11
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services
2024
·
Alice Rogers
, Lucas De Jong
, et al.
·
Australian and New Zealand Journal of Obstetrics and Gynaecology
·
10
PDF
A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family
2015
·
A. Sexton
, L. Rawlings
, et al.
·
Journal of Genetic Counseling
·
10
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion
2024
·
Parvathy Venugopal
, Peer Arts
, et al.
·
Blood Advances
·
9
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing
2023
·
Sunita M. C. De Sousa
, Kathy H. C. Wu
, et al.
·
Acta Diabetologica
·
8
PDF
New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency
2021
·
Jessica A. Eldredge
, Michael R. Couper
, et al.
·
The Journal of Pediatrics
·
7
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion
2022
·
Dinusha Pandithan
, Sonja Klebe
, et al.
·
Case Reports in Genetics
·
6
PDF
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review
2014
·
Aamira Huq
, Maira Kentwell
, et al.
·
Familial Cancer
·
5
PDF
Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes
2025
·
Alex Quach
, Yunyu Lao
, et al.
·
Journal of Allergy and Clinical Immunology
·
4
Recurrent pneumothorax in a case of t enascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum
2022
·
Renee Santoreneos
, Cassandra Vakulin
, et al.
·
American Journal of Medical Genetics Part A
·
4
Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations
2016
·
Anna L Brown
, Christopher N Hahn
, et al.
·
Blood
·
4
Predictive Genetic Testing of a Bone Marrow Recipient–Ethical Issues Involving Unexpected Results, Gender Issues, Test Accuracy, and Implications for the Donor
2013
·
A. Sexton
, L. Rawlings
, et al.
·
Journal of Genetic Counseling
·
3
PDF
A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy
2025
·
Wu Tzen Lim
, Marni Nenke
, et al.
·
Calcified Tissue International
·
2
PDF
Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience
2012
·
NK Poplawski
, L Rawlings
, et al.
·
Hereditary Cancer in Clinical Practice
·
2
PDF
Clefting and cancer: A complex CDH1 case
2022
·
Jennifer Phan
, Abhijit Kulkarni
, et al.
·
Pathology
·
1
Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms
2018
·
Lucy Godley
, Xi Luo
, et al.
·
Blood
·
1
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Works count:
40
Citation count:
750
H-index:
10
I10-index:
12
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