Louise S Bicknell

Louise S Bicknell

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Louise S Bicknell

Louise S Bicknell

Publications by authors named "Louise S Bicknell"

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28Publications

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Hum Mutat 2019 Aug 23;40(8):1063-1070. Epub 2019 Jun 23.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23776
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http://dx.doi.org/10.1002/humu.23776DOI Listing
August 2019

Expanding the phenotypic spectrum associated with DPF2: A new case report.

Am J Med Genet A 2019 Aug 17;179(8):1637-1641. Epub 2019 Jun 17.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.61262DOI Listing
August 2019

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Clin Dysmorphol 2016 Apr;25(2):68-72

aDepartment of Clinical Genetics bH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark cMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh dUniversity of Southampton, Southampton, UK eDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1097/MCD.0000000000000110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772811PMC
April 2016

Cerebral organoids model human brain development and microcephaly.

Nature 2013 Sep 28;501(7467):373-9. Epub 2013 Aug 28.

Institute of Molecular Biotechnology of the Austrian Academy of Science, Vienna 1030, Austria.

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http://dx.doi.org/10.1038/nature12517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817409PMC
September 2013

Quantifying single nucleotide variant detection sensitivity in exome sequencing.

BMC Bioinformatics 2013 Jun 18;14:195. Epub 2013 Jun 18.

MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK.

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http://dx.doi.org/10.1186/1471-2105-14-195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695811PMC
June 2013

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Am J Med Genet A 2012 Nov 20;158A(11):2719-25. Epub 2012 Jul 20.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA.

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http://dx.doi.org/10.1002/ajmg.a.35447DOI Listing
November 2012

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

J Biol Chem 2011 Jun 22;286(24):21393-400. Epub 2011 Apr 22.

Department of Experimental Radiation Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1074/jbc.M110.208793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3122199PMC
June 2011

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Nat Genet 2011 Feb 27;43(4):350-5. Epub 2011 Feb 27.

Medical Research Council (MRC) Human Genetics Unit (HGU), Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1038/ng.776DOI Listing
February 2011

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Eur J Hum Genet 2008 Oct 14;16(10):1176-86. Epub 2008 May 14.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/ejhg.2008.91DOI Listing
October 2008