L. Rawlings

发表

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

M. Cowley, A. Gill, M. Dinger, 2017, European journal of endocrinology.

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly

K. Friend, C. Barnett, L. Rawlings, 2021, American journal of medical genetics. Part A.

RNF43 pathogenic Germline variant in a family with colorectal cancer

Joanne P Young, H. Scott, A. Zibat, 2021, Clinical genetics.

GATA2 deficiency syndrome: A decade of discovery

Anna L. Brown, H. Scott, P. Arts, 2021, Human mutation.

A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

I. Winship, L. Rawlings, A. Sexton, 2015, Journal of Genetic Counseling.

Decision letter for "RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer"

Joanne P Young, H. Scott, A. Zibat, 2021 .

Treatment of myelodysplasia with oral cyclosporin.

S. Brunskill, T. Littlewood, W. Atoyebi, 2002, Clinical and laboratory haematology.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Ying Wang, Christopher C. Porter, Anna L. Brown, 2019, Blood advances.

CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk

E. Haan, S. LeBlanc, T. Roscioli, 2020, American journal of medical genetics. Part A.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

I. Winship, M. Kentwell, A. Huq, 2015, Familial Cancer.

The VHL-dependent regulation of microRNAs in renal cancer

M. Michael, J. Gleadle, Mark B. Van der Hoek, 2010, BMC medicine.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Anna L. Brown, Paul P. S. Wang, S. Fröhling, 2020, Blood advances.

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, Journal of the Endocrine Society.

Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

N. Poplawski, L. Rawlings, T. Hardy, 2022, American journal of medical genetics. Part A.

Predictive Genetic Testing of a Bone Marrow Recipient–Ethical Issues Involving Unexpected Results, Gender Issues, Test Accuracy, and Implications for the Donor

I. Winship, M. Jenkins, L. Rawlings, 2014, Journal of Genetic Counseling.

New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency

C. Barnett, R. Couper, Michael R Couper, 2021, The Journal of Pediatrics.

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

S. Klebe, N. Poplawski, Sui Yu, 2022, Case reports in genetics.

New pathogenic mutations associated with DGAT1 deficiency.

C. Barnett, R. Couper, Michael R Couper, 2021, The Journal of pediatrics.

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

I. Winship, M. Kentwell, A. Huq, 2014, Familial Cancer.