David J Amor

David J Amor

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David J Amor

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Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

J Paediatr Child Health 2019 Nov 12;55(11):1309-1314. Epub 2019 Feb 12.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14398DOI Listing
November 2019

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Anesthesiology 2019 11;131(5):974-982

From Department of Anaesthesiology, Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand (J.W.S.) Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne, Australia (K.L.) Centre for Integrated Critical Care (K.L.) Department of Pharmacology and Therapeutics (K.L.) Department of Paediatrics (A.J.D., D.J.A., P.J.L.) Department of Medical Biology (M.B.), The University of Melbourne, Melbourne, Australia Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia (K.L.) Department of Anaesthesia, Royal Children's Hospital, Melbourne, Australia (A.J.D.) Murdoch Children's Research Institute, Melbourne, Australia (A.J.D., D.J.A.) Royal Children's Hospital, Melbourne, Australia (D.J.A.) Population Health and Immunity Division (P.D., M.B.) Bioinformatics Division (V.L.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia (P.J.L.).

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http://dx.doi.org/10.1097/ALN.0000000000002877DOI Listing
November 2019

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.

Essays Biochem 2019 Nov 7. Epub 2019 Nov 7.

Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1042/EBC20190056DOI Listing
November 2019

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Genet Med 2019 09 18;21(9):1958-1968. Epub 2019 Feb 18.

Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41436-019-0457-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752319PMC
September 2019

Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Genet Med 2019 Sep;21(9):2162-2163

Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41436-019-0515-0DOI Listing
September 2019

Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report.

Int J Lang Commun Disord 2019 09 2;54(5):767-778. Epub 2019 May 2.

Murdoch Children's Research Institute, Parkville, VIC, Australia.

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http://dx.doi.org/10.1111/1460-6984.12474DOI Listing
September 2019

Fragile Females: Case Series of Epilepsy in Girls With Disruption.

Pediatrics 2019 Sep 22;144(3). Epub 2019 Aug 22.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne and Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1542/peds.2019-0599DOI Listing
September 2019

IREB2-associated neurodegeneration.

Brain 2019 Aug;142(8):e40

Murdoch Children's Research Institute, Flemington Rd, Parkville, Australia.

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http://dx.doi.org/10.1093/brain/awz183DOI Listing
August 2019

Health of adults aged 22 to 35 years conceived by assisted reproductive technology.

Fertil Steril 2019 07 16;112(1):130-139. Epub 2019 Apr 16.

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Monash IVF Group Pty Ltd, Richmond, Victoria, Australia; Department of Obstetrics and Gynaecology, Monash University, Clayton, Victoria, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00150282193024
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http://dx.doi.org/10.1016/j.fertnstert.2019.03.001DOI Listing
July 2019

Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.

Clin Epigenetics 2018 23;10:25. Epub 2018 Feb 23.

Environmental and Genetic Epidemiology Research, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia.

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http://dx.doi.org/10.1186/s13148-018-0457-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824607PMC
February 2019

Epigenetics of fragile X syndrome and fragile X-related disorders.

Dev Med Child Neurol 2019 02 7;61(2):121-127. Epub 2018 Aug 7.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/dmcn.13985DOI Listing
February 2019

Speech and language in children with Klinefelter syndrome.

J Commun Disord 2019 Mar - Apr;78:84-96. Epub 2019 Feb 12.

University of Melbourne, Parkville, Victoria 3010, Australia; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia; Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jcomdis.2019.02.003DOI Listing
February 2019

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Genet Med 2018 12 29;20(12):1627-1634. Epub 2018 Mar 29.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/gim.2018.52DOI Listing
December 2018

Characterization of speech and language phenotype in children with NRXN1 deletions.

Am J Med Genet B Neuropsychiatr Genet 2018 12 25;177(8):700-708. Epub 2018 Oct 25.

Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.32664
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http://dx.doi.org/10.1002/ajmg.b.32664DOI Listing
December 2018

Investigating the child with intellectual disability.

Authors:
David J Amor

J Paediatr Child Health 2018 10;54(10):1154-1158

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14202DOI Listing
October 2018

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

J Neurodev Disord 2018 08 6;10(1):24. Epub 2018 Aug 6.

Child Neuropsychology, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

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http://dx.doi.org/10.1186/s11689-018-9242-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091196PMC
August 2018

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.

Reprod Health 2018 Feb 9;15(1):26. Epub 2018 Feb 9.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1186/s12978-018-0468-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807856PMC
February 2018

Health outcomes of school-aged children conceived using donor sperm.

Reprod Biomed Online 2017 Oct 11;35(4):445-452. Epub 2017 Jul 11.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.rbmo.2017.06.012DOI Listing
October 2017

Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years.

J Epidemiol Community Health 2017 10 24;71(10):990-998. Epub 2017 Aug 24.

Public Health Genetics, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1136/jech-2017-209165DOI Listing
October 2017

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

Clinical utility gene card for: 16p12.2 microdeletion.

Eur J Hum Genet 2017 02 16;25(2). Epub 2016 Nov 16.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://dx.doi.org/10.1038/ejhg.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255956PMC
February 2017

Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.

Neurol Genet 2016 Dec 18;2(6):e114. Epub 2016 Oct 18.

Murdoch Childrens Research Institute (D.J.A., A.P.L.M., G.G., M.B.D., K.P., R.J.L., P.J.L.), Royal Children's Hospital (D.J.A., M.B.D., R.J.L.), Parkville; Department of Paediatrics (D.J.A., A.P.L.M., M.B.D., C.B., R.J.L., P.J.L.), Department of Medical Biology (R.T., M.B.), The University of Melbourne; Department of Medicine (Neuroscience) (E.S.), Central Clinical School, Monash University; and Population Health and Immunity Division (R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413PMC
December 2016

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

PLoS Genet 2016 Dec 15;12(12):e1006483. Epub 2016 Dec 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1006483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157948PMC
December 2016

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.

Mol Cell 2016 11 27;64(4):704-719. Epub 2016 Oct 27.

Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford OX3 7DQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2016.09.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128727PMC
November 2016

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Eur Heart J 2016 Sep 22;37(33):2586-90. Epub 2016 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville 3052, Victoria, Australia Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville 3052, Victoria, Australia

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http://dx.doi.org/10.1093/eurheartj/ehw160DOI Listing
September 2016

"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia.

Am J Med Genet A 2016 08 6;170(8):2052-9. Epub 2016 May 6.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37697DOI Listing
August 2016

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

Am J Med Genet A 2016 May 11;170A(5):1363-6. Epub 2016 Jan 11.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37548DOI Listing
May 2016

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Clin Chem 2016 Feb 29;62(2):343-52. Epub 2015 Dec 29.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2015.244681DOI Listing
February 2016

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

Dev Dyn 2015 Aug 16;244(8):1022-30. Epub 2015 Jul 16.

Murdoch Children's Research Institute, Melbourne, Australia.

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http://doi.wiley.com/10.1002/dvdy.24299
Publisher Site
http://dx.doi.org/10.1002/dvdy.24299DOI Listing
August 2015

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Expert Rev Mol Med 2015 Jul 1;17:e13. Epub 2015 Jul 1.

Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

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http://dx.doi.org/10.1017/erm.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209PMC
July 2015

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Neurology 2015 May 15;84(20):2029-32. Epub 2015 Apr 15.

From the Departments of Neurology (R.J.L., A.S.H.), Neurosurgery (W.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Melbourne; Department of Pediatrics (R.J.L., A.S.H., M.B.D., D.J.A., P.J.L.), The University of Melbourne; Bioinformatics Division (T.S., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., G.G., M.B.D., D.J.A., P.J.L.), Murdoch Childrens Research Institute (R.J.L., A.S.H.), Melbourne; Clinical Genetics (M.B.D.), Austin Health, Melbourne, Australia; and Shriners Hospital Pediatric Research Center (P.C.), Temple University, Philadelphia, PA.

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http://www.neurology.org/content/84/20/2029.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

Future of whole genome sequencing.

Authors:
David J Amor

J Paediatr Child Health 2015 Mar 3;51(3):251-4. Epub 2014 Jun 3.

Royal Children's Hospital, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.12634DOI Listing
March 2015

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.

Eur J Hum Genet 2014 Oct 5;22(10):1225-8. Epub 2014 Feb 5.

1] Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169537PMC
October 2014

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.

Authors:
Elizabeth K Bancroft Elizabeth C Page Elena Castro Hans Lilja Andrew Vickers Daniel Sjoberg Melissa Assel Christopher S Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D Gareth Evans Barbara Bulman Diana Eccles Donna McBride Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Christina Selkirk Peter J Hulick Anders Bojesen Anne-Bine Skytte Jimmy Lam Louise Taylor Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Ignacio Blanco Monica Salinas Jackie Cook Derek J Rosario Saundra Buys Tom Conner Margreet G Ausems Kai-ren Ong Jonathan Hoffman Susan Domchek Jacquelyn Powers Manuel R Teixeira Sofia Maia William D Foulkes Nassim Taherian Marielle Ruijs Apollonia T Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A Adank Lisa Walker Rita Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J Lindeman Janez Zgajnar Marc Tischkowitz Virginia E Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F Brady Alan Donaldson Vigdis Stefansdottir Eitan Friedman Rakefet Chen-Shtoyerman David J Amor Lucia Copakova Julian Barwell Veda N Giri Vedang Murthy Nicola Nicolai Soo-Hwang Teo Lynn Greenhalgh Sara Strom Alex Henderson John McGrath David Gallagher Neil Aaronson Audrey Ardern-Jones Chris Bangma David Dearnaley Philandra Costello Jorunn Eyfjord Jeanette Rothwell Alison Falconer Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Zsofia Kote-Jarai Jan Lubinski Ulrika Axcrona Jane Melia Joanne McKinley Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Penny Wilson Emma Killick Sue Moss Rosalind A Eeles

Eur Urol 2014 Sep 15;66(3):489-99. Epub 2014 Jan 15.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eururo.2014.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Int J Stroke 2014 Aug;9(6):E26-7

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia; Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/ijs.12306DOI Listing
August 2014

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

Clin Chem 2014 Jul 28;60(7):963-73. Epub 2014 Apr 28.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.217331DOI Listing
July 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023207PMC
June 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure.

Prenat Diagn 2014 Jun 25;34(6):598-604. Epub 2014 Apr 25.

School of Women's and Children's Health, University of New South Wales, Kensington, NSW, Australia.

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http://dx.doi.org/10.1002/pd.4363DOI Listing
June 2014

Methylation analysis in newborn screening for fragile X syndrome.

JAMA Neurol 2014 Jun;71(6):800

The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne/Parkville, Victoria, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2014.142DOI Listing
June 2014

Implementation of written consent for newborn screening in Victoria, Australia.

J Paediatr Child Health 2014 May 23;50(5):399-404. Epub 2013 Dec 23.

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://doi.wiley.com/10.1111/jpc.12484
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http://dx.doi.org/10.1111/jpc.12484DOI Listing
May 2014

Population-based genetic carrier screening for cystic fibrosis in Victoria.

Med J Aust 2014 Mar;200(4):205-6

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.5694/mja13.10864DOI Listing
March 2014

Fertility in Turner syndrome.

Clin Endocrinol (Oxf) 2013 Nov 4;79(5):606-14. Epub 2013 Sep 4.

Department of Endocrinology and Diabetes, Royal Children's Hospital Melbourne, Melbourne, Vic., Australia; Murdoch Childrens Research Institute, Melbourne, Vic., Australia; University of Melbourne, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1111/cen.12288DOI Listing
November 2013

Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement.

Prenat Diagn 2013 Sep 17;33(9):831-8. Epub 2013 May 17.

School of Women's and Children's Health, University of New South Wales, Kensington, NSW, 2051, Australia.

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http://doi.wiley.com/10.1002/pd.4131
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http://dx.doi.org/10.1002/pd.4131DOI Listing
September 2013

Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.

Pediatr Blood Cancer 2013 Jun 19;60(6):E13-5. Epub 2012 Dec 19.

Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/pbc.24424DOI Listing
June 2013

Clinical comparison of overlapping deletions of 19p13.3.

Am J Med Genet A 2013 May;161A(5):1110-6

Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35923DOI Listing
May 2013

Considerations for reporting genome results to patients.

J Paediatr Child Health 2013 Jan;49(1):82

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http://dx.doi.org/10.1111/jpc.12046DOI Listing
January 2013

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.

Eur J Hum Genet 2012 Aug 8;20(8):825-30. Epub 2012 Feb 8.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400727PMC
August 2012

Questionable pathogenicity of FOXG1 duplication.

Eur J Hum Genet 2012 Jun 18;20(6):595-6; author reply 596-7. Epub 2012 Jan 18.

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http://dx.doi.org/10.1038/ejhg.2011.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355262PMC
June 2012

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Nat Genet 2011 Oct 2;43(11):1142-6. Epub 2011 Oct 2.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1038/ng.945DOI Listing
October 2011

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

J Mol Diagn 2011 Sep 30;13(5):528-36. Epub 2011 Jun 30.

Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jmoldx.2011.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157613PMC
September 2011

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1186/gb-2011-12-9-r85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048PMC
September 2011