Select Publications
Journal articles
2005, 'Patient with a non-mosaic isodicentric Yp and mild developmental delay', American Journal of Medical Genetics Part A, 137A, pp. 223 - 224
,2005, 'Pulmonary haemorrhage and cardiac dysfunction in a neonate withmedium-chain acyl-CoA dehydrogenase (MCAD) deficiency', ACTA Paediatrica, 94, pp. 114 - 116
,2004, 'The fog of expectation', BMJ, 329, pp. 1495, http://dx.doi.org/10.1136/bmj.329.7480.1495-a
,2004, 'The expanding phenotype of cystic fibrosis [1]', Medical Journal of Australia, 181, pp. 514, http://dx.doi.org/10.5694/j.1326-5377.2004.tb06415.x
,2004, 'Diagnosis of proteus syndrome was correct [4] (multiple letters)', American Journal of Medical Genetics, 130 A, pp. 214 - 215, http://dx.doi.org/10.1002/ajmg.a.30337
,2004, 'De novo interstitial duplication 4(q28.1q35) associated with choanalatresia', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 40, pp. 401 - 403
,2004, 'Diagnosis of proteus syndrome was correct', American Journal of Medical Genetics Part A, 130A, pp. 214 - 215
,2004, 'Kousseff syndrome: A causally heterogeneous disorder', American Journal of Medical Genetics Part A, 124A, pp. 307 - 312
,2004, 'NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency', Journal of Clinical Investigation, 114, pp. 837 - 845
,2004, 'Twenty -two novel mutations in the lysosomal alfa glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II', Human Mutation, 23, pp. 47 - 56
,2003, 'Treatment by deception is bad medicine [6]', Lancet, 362, pp. 668, http://dx.doi.org/10.1016/S0140-6736(03)14174-8
,2003, 'Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome', Journal of the American College of Cardiology, 41, pp. 2072 - 2076, http://dx.doi.org/10.1016/S0735-1097(03)00420-0
,2003, 'Embryo selection for complex traits is impracticable [13]', British Medical Journal, 326, pp. 53
,2003, 'To kill or let die? [1] (multiple letters)', Journal of Paediatrics and Child Health, 39, pp. 480, http://dx.doi.org/10.1046/j.1440-1754.2003.00195.x
,2003, 'Cardiac Homebox Gene NKX2-5 Mutations and Congenital Heart Disease', Journal of the American College of Cardiology, 41, pp. 2072 - 2076
,2003, 'D-2-hydroxyglutaric Aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses', American Journal of Medical Genetics Part A, 120A, pp. 523 - 527
,2002, 'Homeodomain factor Nkx2-5 in heart development and disease', Cold Spring Harbor Symposia on Quantitative Biology, 67, pp. 107 - 114, http://dx.doi.org/10.1101/sqb.2002.67.107
,2002, 'Dominant inheritance of cleft palate, microstomia and micrognathia-possible linkage to the fragile site at 16q22(FRA16B)', Clinical Dysmorphology, 11, pp. 237 - 241
,2002, 'Germline mutation of the tumor suppressor PTEN in Proteus syndrome', Journal of Medical Genetics, 39, pp. 937 - 940
,2002, 'germline mutation of the tumor supressor PTEN in Proteus syndrome', Journal of Medical Genetics, 39, pp. 937 - 940
,2001, 'Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18_20, a Domain Important for Host Cell Recognition', American Journal of Human Genetics, pp. 485 - 490
,1999, 'Congenital Hypertrichosis, Osteochondrodysplasia and Cardiomegaly: Cantu Syndrome', American Journal of Medical Genetics Part A, pp. 395 - 402
,1999, 'Dominant inheritance of cleft palate with minor abnoralities ofhands and feet: a new syndrome?', Clinical Dysmorphology, pp. 193 - 197
,1999, 'Severe Micrognathia, Cleft Palate, Absent Olfactory Tract and abnormal rib development: Cerebro-Costo-Mandibular Syndrome or a new syndrome', American Journal of Medical Genetics Part A, pp. 120 - 124
,1998, 'Hypoplastic left heart in cerebrocostomandibular syndrome [3]', Journal of Medical Genetics, 35, pp. 879
,1998, 'X-linked adrenoleukodystrophy: The Australasian experience', American Journal of Medical Genetics, 76, pp. 420 - 423, http://dx.doi.org/10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O
,Conference Papers
2020, 'RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 995 - 996, http://dx.doi.org/10.26190/unsworks/28005
,2019, 'MUTATIONS IN GDF11 AND ITS BINDING PARTNER, FST, AS CAUSES OF OROFACIAL CLEFTING IN HUMANS', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, UT, Snowbird, pp. 894 - 894, presented at 40th Annual David W. Smith Workshop on Malformations and Morphogenesis, UT, Snowbird, 23 August 2019 - 28 August 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000518641400080&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2017, 'Genetic Variants Explaining Neurodevelopmental Disorders in Patients With Congenital Heart Disease - Are We Ready for the Clinic?', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, CA, Anaheim, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, CA, Anaheim, 11 November 2017 - 15 November 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000437035905488&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2017, 'Predicting the impact of expanded carrier screening on carrier detection rates and healthcare costs', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, DENMARK, Copenhagen, pp. 768 - 768, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, DENMARK, Copenhagen, 27 May 2017 - 30 May 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489312606275&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2010, 'alpha,-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', in JOURNAL OF MEDICAL GENETICS, B M J PUBLISHING GROUP, RI, Warwick, pp. S76 - S76, presented at British Human Genetics Conference, RI, Warwick, 06 September 2010 - 08 September 2010, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000283762600155&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2009, 'NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: A COHORT STUDY COMPARING OUTCOME IN SCREENED AND CLINICALLY DIAGNOSED PATIENTS AT SIX YEARS OF AGE', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 3 - 3, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2008, 'alpha-cardiac myosin heavy chain (MYH6) mutations are associated with congenital heart defects', in Journal of Medical Genetics, B M J Publishing Group, London, England, pp. S86 - S86, presented at Journal of Medical Genetics, Univ York, York, ENGLAND, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000259436400186&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a
,1999, 'Interstitial deletion (1)(qter -> p21 :: p22 -> pter) in a 22 month old boy.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, pp. A167 - A167, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000082879800915&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,1998, 'Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome', in AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY-LISS, GERMANY, MARBURG, pp. 395 - 402, presented at International Symposium on Mosaicism in Human Skin, GERMANY, MARBURG, 22 May 1998 - 23 May 1998, http://dx.doi.org/10.1002/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.3.CO;2-9
,1997, 'X-linked adrenoleukodystrophy: The Australasian experience', in AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY-LISS, AUSTRIA, VIENNA, pp. 420 - 423, presented at 7th International Congress of Inborn Errors of Metabolism, AUSTRIA, VIENNA, 21 May 1997 - 25 May 1997, http://dx.doi.org/10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O
,Conference Presentations
2011, 'Pregnancy disrupted: Thinking about the experiences of mothers and fathers after fetal diagnosis of congenital heart disease', presented at World Congress of Psychotherapy, Sydney, Australia, 24 August 2011 - 28 August 2011
,Conference Abstracts
2022, 'More accurate penetrance estimates for neurosusceptibility loci lead to significantly reduced penetrance estimates', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 449 - 449, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367702162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2022, 'PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry', in Pathology, Elsevier BV, Vol. 54, pp. S72 - S73, http://dx.doi.org/10.1016/j.pathol.2021.12.239
,2019, 'EVEROLIMUS-INDUCED REMISSION OF KAPOSI'S SARCOMA SECONDARY TO CRYPTIC CTLA4 SPLICING AND HAPLOINSUFFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 49, pp. 35 - 36, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400106&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2019, 'Towards the treatment of Cantu syndrome', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1091 - 1092, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313900105&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018
,2017, 'CANTU SYNDROME NATURAL HISTORY STUDIES: CLINICAL INVESTIGATIONS ON 18 PATIENTS AND REPORT ON INTERNATIONAL REDCAP REGISTRY DATA ON 58 PATIENTS', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, VT, Stowe, Vol. 176, pp. 1529 - 1530, presented at 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, VT, Stowe, 26 August 2017 - 29 August 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000434040600163&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2016, 'PSYCHOBIOLOGICAL OUTCOMES IN PARENTS AND THEIR INFANTS AFTER FETAL OR POSTNATAL DIAGNOSIS OF COMPLEX CONGENITAL HEART DISEASE', in INTERNATIONAL JOURNAL OF BEHAVIORAL MEDICINE, SPRINGER, Vol. 23, pp. S93 - S93, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388943400296&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,Preprints
2023, Dominant negative OTULIN Related Autoinflammatory Syndrome, , http://dx.doi.org/10.1101/2023.03.24.23287549
,2022, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line, , http://dx.doi.org/10.1101/2022.10.31.514499
,2022, Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening, , http://dx.doi.org/10.21203/rs.3.rs-1726721/v1
,Other
2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), Elsevier, , http://dx.doi.org/10.1016/j.ajhg.2019.03.016
,