Sarah L. King-Smith

发表

GATA2 deficiency syndrome: A decade of discovery

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

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Anna L. Brown, S. Fröhling, G. Natsoulis, 2021, Haematologica.

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.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

H. Scott, A. Schreiber, C. Barnett, 2020, Journal of Medical Genetics.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

S. Sandaradura, Meredith Wilson, Anand Vasudevan, 2020, Genetics in 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.

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Paul P. S. Wang, H. Scott, A. Schreiber, 2021, BMC Medical Genomics.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, American journal of medical genetics. Part A.

Clonal hematopoiesis in individuals with ANKRD26 or ETV6 germline mutations

Anna L. Brown, H. Scott, A. Schreiber, 2021, bioRxiv.