Edwin P Kirk

Edwin P Kirk

UNVERIFIED PROFILE

Are you Edwin P Kirk?   Register this Author

Register author
Edwin P Kirk

Edwin P Kirk

Publications by authors named "Edwin P Kirk"

Are you Edwin P Kirk?   Register this Author

67Publications

825Reads

-Profile Views

Case report of a child bearing a novel deleterious splicing variant in PIGT.

Medicine (Baltimore) 2019 Feb;98(8):e14524

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, Institut de Recerca Sant Joan de Déu (IRSJD), CIBERER, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000014524DOI Listing
February 2019

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2018.16DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0318-8DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ahj.2018.03.021DOI Listing
July 2018

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

Cell 2018 02;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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
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.).

View Article

Download full-text PDF

Source
https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.117.001
Publisher Site
http://dx.doi.org/10.1161/CIRCGENETICS.117.001967DOI Listing
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2017.09.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687820PMC
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.117.001764DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2016.12.024DOI Listing
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2016.11.060DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/531173bDOI Listing
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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2015.08.007DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2014.10.119DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.12799DOI Listing
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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07351097140657
Publisher Site
http://dx.doi.org/10.1016/j.jacc.2014.09.048DOI Listing
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].

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncomms5483
Publisher Site
http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.169DOI Listing
June 2014

Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure.

Prenat Diagn 2014 Jun 25;34(6):598-604. Epub 2014 Apr 25.

School of Women's and Children's Health, University of New South Wales, Kensington, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4363DOI Listing
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.4131
Publisher Site
http://dx.doi.org/10.1002/pd.4131DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35791DOI Listing
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306866PMC
April 2012

Mutant AKT1 in Proteus syndrome.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1111367DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hlc.2011.03.003DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2011.06.005DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2010.0028DOI Listing
December 2010

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Hum Mol Genet 2010 Oct 23;19(20):4007-16. Epub 2010 Jul 23.

Institute of Genetics, School of Biology, Queen’s Medical Centre, University of Nottingham, Nottingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq315DOI Listing
October 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.11.005DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncponc1112DOI Listing
June 2008

Genetic risk estimation by health care professionals.

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

View Article

Download full-text PDF

Source
June 2005

The expanding phenotype of cystic fibrosis.

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

View Article

Download full-text PDF

Source
November 2004

Diagnosis of Proteus syndrome was correct.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30337
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30337DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20120DOI Listing
August 2003

Treatment by deception is bad medicine.

Authors:
Edwin P Kirk

Lancet 2003 Aug;362(9384):668

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(03)14174-8DOI Listing
August 2003