Gareth Baynam

Gareth Baynam

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Gareth Baynam

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Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Pediatr Dermatol 2019 Sep 18. Epub 2019 Sep 18.

Department of Dermatology, Perth Children's Hospital, Perth, Australia.

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http://dx.doi.org/10.1111/pde.13995DOI Listing
September 2019

Editorial: Public Health Genomics.

Front Public Health 2019 6;7:142. Epub 2019 Jun 6.

Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563762PMC
June 2019

Optimizing Precision Medicine for Public Health.

Front Public Health 2019 7;7:42. Epub 2019 Mar 7.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416195PMC
March 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 Mar;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193022
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http://dx.doi.org/10.1016/j.cell.2019.02.040DOI Listing
March 2019

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.

Front Public Health 2019 11;7:40. Epub 2019 Mar 11.

Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, East Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421958PMC
March 2019

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.

Front Public Health 2019 11;7:41. Epub 2019 Mar 11.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2019.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421399PMC
March 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Silver Russel syndrome in an aboriginal patient from Australia.

Am J Med Genet A 2018 12 27;176(12):2561-2563. Epub 2018 Aug 27.

Genetic Services of Western Australia, Subiaco, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.40502DOI Listing
December 2018

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Adv Exp Med Biol 2017 ;1031:511-520

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1007/978-3-319-67144-4_27DOI Listing
June 2018

Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians.

Front Public Health 2018 20;6:183. Epub 2018 Jun 20.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2018.00183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019488PMC
June 2018

Incidental inequity.

Eur J Hum Genet 2018 05 15;26(5):616-617. Epub 2018 Feb 15.

Department of Health, Office of Population Health Genomics, Public and Aboriginal Health Division, Government of Western Australia, East Perth, WA, Australia.

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http://dx.doi.org/10.1038/s41431-018-0101-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945631PMC
May 2018

Editorial: Precision Public Health.

Front Public Health 2018 30;6:121. Epub 2018 Apr 30.

Curtin University, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2018.00121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937027PMC
April 2018

Cerebral palsy and genomics: an international consortium.

Dev Med Child Neurol 2018 02;60(2):209-210

The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/dmcn.13643DOI Listing
February 2018

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Mol Syndromol 2018 Feb 25;9(2):70-82. Epub 2018 Jan 25.

School of Biomedical Sciences and Pharmacy, The University of Newcastle, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1159/000484532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836217PMC
February 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cts.12501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759730PMC
January 2018

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder.

JAMA Pediatr 2017 08;171(8):731-732

Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Perth, Western Australia.

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http://dx.doi.org/10.1001/jamapediatrics.2017.1342DOI Listing
August 2017

Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015.

Med J Aust 2017 May;206(8):351-356

Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA.

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http://dx.doi.org/10.5694/mja16.00966DOI Listing
May 2017

3-Dimensional Facial Analysis-Facing Precision Public Health.

Front Public Health 2017 10;5:31. Epub 2017 Apr 10.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2017.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385440PMC
April 2017

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet 2017 02 26;25(2):162-165. Epub 2016 Oct 26.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2016.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255942PMC
February 2017

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.

Front Public Health 2017 24;5:25. Epub 2017 Feb 24.

Centre for Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2017.00025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323409PMC
February 2017

Translating Aboriginal genomics - four letters Closing the Gap.

Med J Aust 2016 Oct;205(8):379

Telethon Kids Institute, Perth, WA.

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http://dx.doi.org/10.5694/mja16.00513DOI Listing
October 2016

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.

Mol Genet Metab 2015 Dec 5;116(4):223-5. Epub 2015 Nov 5.

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.11.003DOI Listing
December 2015

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

Database (Oxford) 2015 27;2015. Epub 2015 Feb 27.

School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK, LASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal, Genetic Services of Western Australia, King Edward Memorial Hospital, WA 6008, Australia, School of Paediatrics and Child Health, University of Western Australia, WA 6008, Australia, Institute for Immunology and Infectious Diseases, Murdoch University, WA 6150, Australia, Office of Population Health, Public Health and Clinical Services Division, Western Australian Department of Health, WA 6004, Australia, Academic Department of Medical Genetics, Sydney Children's Hospitals Network (Westmead), NSW 2145, Australia, Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, NSW 2006, Australia, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany and Berlin Brandenburg Center for Regenerative Therapies, 13353 Berlin, Germany School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informa

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http://dx.doi.org/10.1093/database/bav005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343077PMC
September 2015

Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures.

JIMD Rep 2015 3;22:99-106. Epub 2015 Mar 3.

School of Paediatrics and Child Health, University of Western Australia, D184, Perth, WA, 6840, Australia,

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http://dx.doi.org/10.1007/8904_2015_417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486281PMC
July 2015

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Am J Med Genet A 2015 Jul 6;167(7):1659-67. Epub 2015 Apr 6.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37070DOI Listing
July 2015

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Am J Hum Genet 2015 Jul 25;97(1):111-24. Epub 2015 Jun 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507PMC
July 2015

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

J Paediatr Child Health 2015 May 23;51(5):555-560. Epub 2014 Nov 23.

Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12778DOI Listing
May 2015

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.

J Clin Endocrinol Metab 2014 Jun 14;99(6):1947-8. Epub 2014 Mar 14.

Department of Endocrinology and Diabetes (S.R.R., T.J., C.S.Y.C.), Princess Margaret Hospital for Children; School of Pediatrics and Child Health (S.R.R., G.B., T.J., C.S.Y.C.), University of Western Australia; Departments of Pathology (A.C.), and Diagnostic Imaging (A.B., N.P.), Princess Margaret Hospital for Children; Genetic Services of Western Australia (G.B.), Princess Margaret and King Edward Memorial Hospitals; Institute for Immunology and Infectious Diseases (G.B.), Murdoch University; Telethon Institute for Child Health Research (T.J.), Perth, WA 6008, Australia; (J.R.P.), Minneapolis, Minnesota; and Program in Cancer Genetics, Department of Oncology and Human Genetics (W.D.F.), McGill University, Montreal, QC H3T 1E2, Canada.

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http://dx.doi.org/10.1210/jc.2013-3932DOI Listing
June 2014

Correction: Dispelling myths about rare disease registry system development.

Source Code Biol Med 2014 Jan 31;9(1). Epub 2014 Jan 31.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-9-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917533PMC
January 2014

Dispelling myths about rare disease registry system development.

Source Code Biol Med 2013 Oct 16;8(1):21. Epub 2013 Oct 16.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-8-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015362PMC
October 2013

Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.

Twin Res Hum Genet 2013 Aug;16(4):840-4

School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1017/thg.2013.49DOI Listing
August 2013

The facial evolution: looking backward and moving forward.

Hum Mutat 2013 Jan 2;34(1):14-22. Epub 2012 Nov 2.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.

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http://dx.doi.org/10.1002/humu.22219DOI Listing
January 2013

Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics.

J Anat 2012 Aug 18;221(2):97-114. Epub 2012 Jun 18.

K.U. Leuven, Medical Imaging Research Center (MIRC), Faculty of Engineering, Department of Electrical Engineering - ESAT, Center for Processing Speech and Images - PSI, Leuven, Belgium.

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http://dx.doi.org/10.1111/j.1469-7580.2012.01528.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406357PMC
August 2012

The need for genetic studies of Indigenous Australians.

Authors:
Gareth S Baynam

Med J Aust 2012 Mar;196(5):313

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http://dx.doi.org/10.5694/mja11.11459DOI Listing
March 2012

Fetal akinesia: review of the genetics of the neuromuscular causes.

J Med Genet 2011 Dec 7;48(12):793-801. Epub 2011 Oct 7.

Centre for Medical Research, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2011-100211DOI Listing
December 2011

A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

BMJ Case Rep 2011 Sep 19;2011. Epub 2011 Sep 19.

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.07.2011.4445
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http://dx.doi.org/10.1136/bcr.07.2011.4445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185393PMC
September 2011

Intersections of epigenetics, twinning and developmental asymmetries: insights into monogenic and complex diseases and a role for 3D facial analysis.

Twin Res Hum Genet 2011 Aug;14(4):305-15

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth.

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http://dx.doi.org/10.1375/twin.14.4.305DOI Listing
August 2011

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

Cornelia de Lange syndrome.

Adv Exp Med Biol 2010 ;685:111-23

Division of Human and Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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August 2010

A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.

Twin Res Hum Genet 2010 Aug;13(4):297-300

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of Western Australia, Australia.

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http://www.journals.cambridge.org/abstract_S1832427400010665
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http://dx.doi.org/10.1375/twin.13.4.297DOI Listing
August 2010

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

Am J Med Genet A 2010 Apr;152A(4):966-9

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33264DOI Listing
April 2010

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.

J Maxillofac Oral Surg 2009 Sep 21;8(3):279-82. Epub 2009 Nov 21.

School of Paediatrics and Child Health, University of WA, Perth, Australia.

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http://dx.doi.org/10.1007/s12663-009-0068-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454233PMC
September 2009

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

Am J Med Genet A 2009 Jun;149A(6):1331-3

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.32875
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32875DOI Listing
June 2009

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.

Am J Med Genet A 2008 Sep;146A(17):2301-3

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32443DOI Listing
September 2008

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses.

Vaccine 2008 Jul 27;26(29-30):3574-9. Epub 2008 May 27.

Telethon Institute for Child Health Research and Centre for Child Health Research, Perth, Australia.

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http://dx.doi.org/10.1016/j.vaccine.2008.05.011DOI Listing
July 2008

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

Am J Med Genet A 2008 Jun;146A(12):1565-70

Genetic Services of Western Australia, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of WA, Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32095DOI Listing
June 2008

Parental smoking impairs vaccine responses in children with atopic genotypes.

J Allergy Clin Immunol 2007 Feb 23;119(2):366-74. Epub 2006 Oct 23.

Telethon Institute for Child Health Research, Perth, Australia.

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http://dx.doi.org/10.1016/j.jaci.2006.09.018DOI Listing
February 2007

Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response.

Vaccine 2007 Jan 2;25(2):306-13. Epub 2006 Aug 2.

Department of Paediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.vaccine.2006.07.024DOI Listing
January 2007