A. Colley

发表

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

T. Roscioli, B. Meiser, K. Barlow-Stewart, 2018, Journal of genetic counseling.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

B. Emanuel, M. Budarf, J. Christodoulou, 1999, American journal of medical genetics.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, A. O’Donnell-Luria, N. Laing, 2020, Journal of Medical Genetics.

syndrome resulting from DNA deletion . Clinical features in 27 patients with Angelman

E. Haan, A. Smith, R. Trent, 2004 .

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

E. Haan, A. Smith, R. Trent, 1996, Journal of medical genetics.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

J. Clayton-Smith, B. Kamien, T. Dudding-Byth, 2017, American journal of medical genetics. Part A.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

M. Cowley, T. Roscioli, K. Barlow-Stewart, 2018, Genetics in Medicine.

KBG syndrome: An Australian experience

M. Tekin, T. Roscioli, Meredith Wilson, 2017 .

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

A. Lipson, A. Colley, K. Fagan, 1997, Journal of medical genetics.

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

R. Mendoza-Londono, L. Lecerf, A. Colley, 2015, Human molecular genetics.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Richard T. Barfield, J. Rosenfeld, L. Shaffer, 2013, Proceedings of the National Academy of Sciences.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

M. Cowley, M. Dinger, T. Roscioli, 2018, Genetics in Medicine.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

D. Horn, S. Uhrig, E. Klopocki, 2013, Clinical genetics.

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Andrew B. Kirke, Clara K. Chow, A. Keech, 2021, American journal of preventive cardiology.

Prevalence and determinants of cessation of exclusive breastfeeding in the early postnatal period in Sydney, Australia

A. Arora, F. Ogbo, V. Eapen, 2017, International Breastfeeding Journal.

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

S. Mundlos, S. Kummerfeld, L. Hesson, 2021, Neurology.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

Marcel E Dinger, Diane Fatkin, Christopher Semsarian, 2018, Journal of the American College of Cardiology.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum

D. David, S. LeBlanc, T. Roscioli, 2018, Molecular Syndromology.

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

G. Sholler, A. Lipson, A. Colley, 1996, American journal of medical genetics.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

An interstitial deletion of chromosome 7(q35).

L. Roddick, A. Colley, A. Colley, 1994, Journal of medical genetics.

The impact of coding germline variants on contralateral breast cancer risk and survival

W. He, A. Børresen-Dale, N. Camp, 2023, American journal of human genetics.

Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing

Marcus J Hinchcliffe, R. Lindeman, Meredith Wilson, 2006, Pathology.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

D. Sillence, M. Cowley, M. Dinger, 2019, Journal of Medical Genetics.

Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome

J. Colebatch, N. Mahant, S. Duma, 2019, Movement disorders clinical practice.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

M. Cowley, T. Roscioli, K. Barlow-Stewart, 2018, Genetics in Medicine.

The Genetic Counseling Workplace—An Australasian Perspective. A National Study of Workplace Issues for Genetic Counselors and Associate Genetic Counselors

A. Colley, C. James, S. Worthington, 2003, Journal of Genetic Counseling.

Kousseff syndrome: A causally heterogeneous disorder

S. Dunwoodie, D. Sparrow, E. Kirk, 2004, American journal of medical genetics. Part A.

Genome-wide association study identifies novel breast cancer susceptibility loci

Lester L. Peters, A. Uitterlinden, D. Cox, 2007, Nature.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

E. Haan, F. Muntoni, N. Laing, 2003, Neuromuscular Disorders.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.