Edwin P Kirk

Edwin P Kirk

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Edwin P Kirk

Edwin P Kirk

Publications by authors named "Edwin P Kirk"

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65Publications

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Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.

Genet Med 2018 11 1;20(11):1387-1395. Epub 2018 Mar 1.

Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia.

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November 2018

Response to Suthers and Mina.

Genet Med 2018 Oct 16. Epub 2018 Oct 16.

Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, NSW, Australia.

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October 2018

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns 2018 Sep 5. Epub 2018 Sep 5.

Centre for Clinical Genetics, Sydney Children's Hospital, High St., Randwick, Sydney, NSW, 2031, Australia.

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September 2018

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Am Heart J 2018 Jul 5;201:33-39. Epub 2018 Apr 5.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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July 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 Feb;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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February 2018

Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics.

Circ Cardiovasc Genet 2017 Dec;10(6)

From the Heart Centre for Children, Children's Hospital at Westmead (D.S.W.), Sydney Children's Hospitals Network (D.S.W., E.P.K.), Faculty of Medicine (D.S.W.), and Centre for Clinical Genetics, Sydney Children's Hospital (E.P.K.), University of Sydney, Randwick, NSW, Australia; Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (D.S.W., S.L.D.); Faculties of Medicine and Science (S.L.D.) and School of Women's and Children's Health (E.P.K.), University of New South Wales, Randwick, Australia; and NSW Health Pathology Randwick Genetics Laboratory, Australia (E.P.K.).

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December 2017

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Cell Rep 2017 Oct;21(4):926-933

Pharmacology and Toxicology, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA; Program for Neuroscience, University at Buffalo - The State University of New York, Buffalo, NY 14214, USA. Electronic address:

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October 2017

Genes, Environment, and the Heart: Putting the Pieces Together.

Authors:
Edwin P Kirk

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Centre for Clinical Genetics, Sydney Children's Hospital; SEALS Genetics Laboratory, NSW Health Pathology; School of Women's and Children's Health, University of New South Wales, Randwick, Australia.

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June 2017

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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April 2017

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

Int J Cardiol 2017 Mar 13;230:155-163. Epub 2016 Dec 13.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Australia. Electronic address:

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March 2017

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

J Am Coll Cardiol 2017 Feb;69(7):859-870

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Australia. Electronic address:

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February 2017

Zika virus: accurate terminology matters.

Authors:
Edwin P Kirk

Nature 2016 Mar;531(7593):173

Sydney Children's Hospital; University of New South Wales; and SEALS Laboratories, Randwick, Australia.

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March 2016

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Mol Genet Metab 2015 Nov 14;116(3):178-86. Epub 2015 Aug 14.

Sydney Children's Hospital, High Street Randwick NSW 2031, Australia; University of New South Wales, High Street, Sydney, NSW 2052, Australia; Seals Molecular Genetics, POW Hospital Campus, Barker Street, Randwick, Sydney, NSW 2031, Australia. Electronic address:

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November 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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February 2015

Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning.

Int J Cardiol 2015 Jan 22;178:124-30. Epub 2014 Oct 22.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Australia. Electronic address:

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January 2015

An explosion, a tsunami, a runaway train: half a century of genetics.

Authors:
Edwin P Kirk

J Paediatr Child Health 2015 Jan;51(1):3-7

Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.

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January 2015

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

J Am Coll Cardiol 2014 Dec;64(23):2498-506

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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December 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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July 2014

Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance.

Genet Med 2014 Jun 7;16(6):460-8. Epub 2013 Nov 7.

1] Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, New South Wales, Australia [2] Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.

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June 2014

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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September 2013

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Am J Med Genet A 2013 May 13;161A(5):1117-21. Epub 2013 Mar 13.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA.

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May 2013

Congenital heart disease: current knowledge about causes and inheritance.

Med J Aust 2012 Aug;197(3):155-9

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW.

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August 2012

'Nasal' speech--hyper or hypo?

Authors:
Edwin P Kirk

Eur J Hum Genet 2012 Apr 7;20(4):367; author reply 367. Epub 2011 Dec 7.

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April 2012

Mutant AKT1 in Proteus syndrome.

N Engl J Med 2011 12;365(22):2141-2; author reply 2142

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December 2011

Prophylactic left thoracic sympathectomy to prevent electrical storms in CPVT patients needing ICD placement.

Heart Lung Circ 2011 Nov 7;20(11):731-3. Epub 2011 Apr 7.

Department of Cardiology, Sydney Children's Hospital, University of New South Wales, Sydney, NSW 2031, Australia.

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November 2011

Cardiac disease in methylmalonic acidemia.

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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November 2011

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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September 2011

Salicylate intoxication from teething gel in infancy.

Med J Aust 2011 Feb;194(3):146-8

Sydney Children's Hospital, Sydney, NSW, Australia.

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February 2011

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Genet Test Mol Biomarkers 2010 Dec 27;14(6):797-802. Epub 2010 Sep 27.

Heart Centre for Children, The Children's Hospital at Westmead, Westmead, Australia.

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December 2010

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.

J Med Case Rep 2010 Nov 12;4:361. Epub 2010 Nov 12.

Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney Australia.

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November 2010

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8.

IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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June 2008

Rapamycin treatment for a child with germline PTEN mutation.

Nat Clin Pract Oncol 2008 Jun 22;5(6):357-61. Epub 2008 Apr 22.

Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.

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June 2008

Classification of stillbirth: classification is not explanation.

Authors:
Edwin P Kirk

BMJ 2005 Nov;331(7527):1269; author reply 1270

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November 2005

Genetic risk estimation by health care professionals.

Med J Aust 2005 Jun;182(11):596-7; author reply 597

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June 2005

The expanding phenotype of cystic fibrosis.

Med J Aust 2004 Nov;181(9):514

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November 2004

Diagnosis of Proteus syndrome was correct.

Am J Med Genet A 2004 Oct;130A(2):214-5; author reply 216-7

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October 2004

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

Am J Med Genet A 2003 Aug;120A(4):523-7

Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.

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August 2003

Treatment by deception is bad medicine.

Authors:
Edwin P Kirk

Lancet 2003 Aug;362(9384):668

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August 2003