J. McGaughran

K. Ball, J. Atherton, J. Sweeting, 2017, European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology.

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

H. Silljé, D. Murrell, P. van der Meer, 2022, The British journal of dermatology.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

B. V. van Bon, A. Hoischen, B. D. de Vries, 2017, PLoS genetics.

Molecular diagnosis of spinal muscular atrophy

H. Stewart, A. Wallace, J. Mcgaughran, 1998, Archives of disease in childhood.

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Angeline S Ferdinand, Y. Paradies, M. Kelaher, 2022, Nature Communications.

The Initial Six Months of An Australian Renal Genetics Clinic Service

A. Mallett, H. Healy, C. Patel, 2014 .

Interstitial deletion of 3p22.2-p24.2: the first reported case

E. Mitchell, P. Oei, J. McGaughran, 2001, Journal of medical genetics.

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

T. Robertson, Jason Smith, J. McGaughran, 2012, Annals of diagnostic pathology.

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

J. Atherton, C. Semsarian, J. Ingles, 2018, Journal of Genetic Counseling.

Hypertrophic Cardiomyopathy: Challenging the Status Quo?

J. Atherton, J. Mcgaughran, J. Younger, 2019, Heart, lung & circulation.

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

P. Scuffham, J. Atherton, C. Semsarian, 2011, Heart.

Health status of cardiac genetic disease patients and their at-risk relatives.

P. Scuffham, J. Atherton, L. Yeates, 2013, International journal of cardiology.

Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.

P. Scuffham, J. Atherton, C. Semsarian, 2021, International journal of cardiology.

Factors influencing uptake of familial long QT syndrome genetic testing

C. Semsarian, J. Ingles, C. Burns, 2016, American journal of medical genetics. Part A.

Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy.

R. Weintraub, D. Fatkin, J. Atherton, 2017, Heart, lung & circulation.

University of Groningen CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating

A. Elliott, B. Sluis, D. Dekker, 2019 .

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Barbara Plecko, D. Dekker, N. Huijkman, 2016, Nature Communications.

“This is my boy’s health! Talk straight to me!” perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services

Y. Paradies, M. Kelaher, G. Baynam, 2020, International Journal for Equity in Health.

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

R M Winter, C McKeown, S. Mundlos, 1997, Proceedings of the National Academy of Sciences of the United States of America.

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

D. G. Osborne, Marco Y. Hein, J. Gécz, 2015, Molecular biology of the cell.

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

A. V. Vulto-van Silfhout, R. Pfundt, M. Shaw, 2020, Human mutation.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

K. Mills, D. Donnai, P. Clayton, 1995, American journal of medical genetics.

Prenatal diagnosis of partial tetrasomy 14: a case study

A. George, L. Hallam, P. Oei, 2002, Prenatal diagnosis.

Expanding the spectrum of TBX5 mutations in Holt‐Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

M. Bamshad, K. Chrzanowska, J. Mcgaughran, 2006, Human mutation.

Radon exposure and lung cancer.

K. Mills, J. Neuberger, D. Donnai, 1994 .

S. Nelson, M. Reuter, J. Martinez-Agosto, 2021, Orphanet Journal of Rare Diseases.

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia.

J. Kozlovski, J. Mcgaughran, C. Semsarian, 2014, International journal of cardiology.

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy

M. Mann, M. Murgia, M. Schaller, 2015, EMBO molecular medicine.

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

G. Peters, L. St Heaps, A. Kelly, 2016, American journal of medical genetics. Part A.

Establishment of an Australian National Genetic Heart Disease Registry.

R. Weintraub, J. Atherton, C. Semsarian, 2008, Heart, lung & circulation.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation

Meredith Wilson, M. Goossens, B. Sutton, 2005, American journal of medical genetics. Part A.

Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2014, Nature Genetics.

Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy

Jørgen K. Kanters, O. Havndrup, H. Bundgaard, 2020, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

S. Warren, M. Hegde, H. Peters, 2001, Journal of medical genetics.

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

P. Scuffham, J. Atherton, L. Yeates, 2012, Genetics in Medicine.

Health Status of Cardiac Genetic Disease Patients and Their At-risk Relatives

P. Scuffham, J. Atherton, J. Mcgaughran, 2011 .

Delineating the phenotype of RNU4ATAC‐related spliceosomopathy

C. Richmond, J. McGaughran, Amanda Tabib, 2023, American journal of medical genetics. Part A.

Pleural malignancy in a 22‐year‐old female with a chromosome 22q13 deletion

M. Jessop, M. Sidhu, J. McGaughran, 2012, American Journal of Medical Genetics. Part A.

Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.

T. Hadwen, R. Clark, J. McGaughran, 2010, Clinical dysmorphology.

Compound heterozygosity at the FMR1 gene.

M. Hegde, J. Mcgaughran, D. Love, 2001, Genetic testing.

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

V. Steen, O. Bruland, G. Houge, 2018, European Journal of Human Genetics.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

K. Mills, D. Donnai, L. Moore, 1995, American journal of medical genetics.

DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME. AUTHORS' REPLY

K. Mills, P. Clayton, D. Donnai, 1994 .

Diagnosis of Smith-Lemli-Opitz syndrome.

K. Mills, D. Donnai, P. Clayton, 1994, The New England journal of medicine.

Non‐pathological paternal isodisomy of chromosome 2 detected from a genome‐wide SNP scan

P. Visscher, A. McRae, N. Martin, 2009, American journal of medical genetics. Part A.

TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy

R. Weintraub, C. Semsarian, J. Ingles, 2023, Journal of Medical Genetics.

Fanconi anemia and primary cataracts: first case

J. Mora, J. McGaughran, M. Merriman, 2002, Ophthalmic genetics.

Biliary atresia in Kabuki syndrome.

J. Clayton-Smith, D. Donnai, J. McGaughran, 2000, American journal of medical genetics.

KBG syndrome: An Australian experience.

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

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

J. Atherton, L. Yeates, C. Semsarian, 2013, Genetics in Medicine.

Klippel‐Feil anomaly in Fanconi anemia

J. McGaughran, 2003, Clinical dysmorphology.

Geleophysic dysplasia and Myhre syndrome: Reply

D. Donnai, J. McGaughran, 1996 .

Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI.

J. Atherton, J. Younger, A. Camuglia, 2013, International journal of cardiology.