S. Rajagopalan

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.

Genetic architecture of left ventricular noncompaction in adults

A. Barratt, L. Yeates, C. Semsarian, 2020, Human Genome Variation.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

F. Andermann, A. Zeman, S. Berkovic, 2018, Brain : a journal of neurology.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

I. Scheffer, S. Berkovic, Z. Stark, 2022, American journal of medical genetics. Part A.

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.

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 .

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage

C. Munns, S. Rajagopalan, J. Sandy, 2022, American journal of medical genetics. Part A.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

W. Talbot, J. Melki, G. Ravenscroft, 2015, American journal of human genetics.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

S. Holden, R. McGowan, A. Hunter, 2011, American journal of medical genetics. Part A.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

M. Brown, E. Duncan, T. Dudding-Byth, 2016, Human mutation.

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.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

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

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

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.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Update on the Diagnosis and Management of Brugada Syndrome.

J. Vohra, S. Rajagopalan, 2015, Heart, lung & circulation.

MERTK retinopathy: biomarkers assessing vision loss

P. McCluskey, Afsah Zaheer, Benjamin M. Nash, 2021, Ophthalmic genetics.

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.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

I. Scheffer, J. Gécz, S. Robertson, 2021, Human mutation.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

KBG syndrome: An Australian experience.

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

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

The Cardiac Society of Australia and New Zealand Position Statement on the Diagnosis and Management of Brugada Syndrome

S. Rajagopalan, Jitendra Vohra, 2019 .

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

L. Yeates, C. Semsarian, J. Ingles, 2023, NPJ genomic medicine.

A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

Benjamin M. Nash, J. Grigg, S. Rajagopalan, 2023, Documenta Ophthalmologica.

Genetic architecture of left ventricular noncompaction in adults.

A. Barratt, L. Yeates, C. Semsarian, 2020, Human Genome Variation.