Jillian Nicholl

Jillian Nicholl

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Jillian Nicholl

Jillian Nicholl

Publications by authors named "Jillian Nicholl"

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15Publications

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Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

Phenotypes of AKT3 deletion: a case report and literature review.

Am J Med Genet A 2015 Jan 25;167A(1):174-9. Epub 2014 Nov 25.

Royal Melbourne Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36710DOI Listing
January 2015

Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

Am J Med Genet A 2014 Mar 19;164A(3):834-6. Epub 2013 Dec 19.

University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36336DOI Listing
March 2014

Rare copy number variation in cerebral palsy.

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

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

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http://dx.doi.org/10.1038/ejhg.2013.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865415PMC
January 2014

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Pathology 2014 Jan;46(1):41-5

1Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251630641
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http://dx.doi.org/10.1097/PAT.0000000000000043DOI Listing
January 2014

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.

Am J Med Genet A 2013 Jun 6;161A(6):1508-12. Epub 2013 May 6.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, and School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35922DOI Listing
June 2013

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):24-35. Epub 2012 Nov 26.

Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.b.32114DOI Listing
January 2013

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.

Am J Med Genet A 2012 Dec 20;158A(12):3168-73. Epub 2012 Nov 20.

South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35456DOI Listing
December 2012

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Am J Med Genet A 2011 Dec 7;155A(12):3139-43. Epub 2011 Nov 7.

SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.34310
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http://dx.doi.org/10.1002/ajmg.a.34310DOI Listing
December 2011

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

Epileptic Disord 2010 Sep 19;12(3):192-8. Epub 2010 Jul 19.

Department of Medicine, University of Melbourne, Australia.

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http://dx.doi.org/10.1684/epd.2010.0326DOI Listing
September 2010