Select Publications
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
,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
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