Publications by authors named "Katherine Neas"

21Publications

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

J Hum Genet 2020 Sep 21;65(9):743-750. Epub 2020 Apr 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-020-0764-4DOI Listing
September 2020

Spinocerebellar Ataxia type 29 in a family of Māori descent.

Cerebellum Ataxias 2019 12;6:14. Epub 2019 Oct 12.

1Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Gonda Room 6554, Los Angeles, CA 90095 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40673-019-0108-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790028PMC
October 2019

Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.

Am Heart J 2019 03 19;209:126-130. Epub 2018 Dec 19.

Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ahj.2018.11.013DOI Listing
March 2019

Detection of sudden death syndromes in New Zealand.

N Z Med J 2016 Nov 18;129(1445):67-74. Epub 2016 Nov 18.

Department of Paediatrics, Waikato Hospital, New Zealand.

View Article

Download full-text PDF

Source
November 2016

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Am J Med Genet A 2014 Dec 24;164A(12):3027-34. Epub 2014 Sep 24.

Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36751DOI Listing
December 2014

Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland.

Pediatrics 2012 Mar 6;129(3):e817-20. Epub 2012 Feb 6.

Department of Paediatrics, Capital and Coast District Health Board, Wellington, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2011-0634DOI Listing
March 2012

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.

Pediatr Blood Cancer 2010 Oct;55(4):722-4

Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pbc.22574
Publisher Site
http://dx.doi.org/10.1002/pbc.22574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933084PMC
October 2010

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.

Allergy Asthma Clin Immunol 2010 Jun 8;6(1):12. Epub 2010 Jun 8.

Department of Clinical Immunology Auckland City Hospital, Park Rd, Grafton, Auckland New Zealand.

View Article

Download full-text PDF

Source
http://aacijournal.biomedcentral.com/articles/10.1186/1710-1
Publisher Site
http://dx.doi.org/10.1186/1710-1492-6-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903612PMC
June 2010

Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association.

Clin Dysmorphol 2006 Jan;15(1):1-8

Department of Clinical Genetics, Children's Hospital at Westmead, North Ryde, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mcd.0000184966.46231.49DOI Listing
January 2006

Neonatal nasal obstruction and a single maxillary central incisor.

J Paediatr Child Health 2005 Jul;41(7):380-1

Grace Centre for Newborn Care, The Children's Hospital at Westmean, Sydney, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1440-1754.2005.00639.x
Publisher Site
http://dx.doi.org/10.1111/j.1440-1754.2005.00639.xDOI Listing
July 2005

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Am J Med Genet A 2005 Feb;132A(4):425-30

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30496
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30496DOI Listing
February 2005

A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.

Clin Dysmorphol 2003 Jul;12(3):179-81

Department of Clinical Genetics, The Children's Hospital at Westmead, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mcd.0000072162.33788.8dDOI Listing
July 2003