William Reardon

William Reardon

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William Reardon

Publications by authors named "William Reardon"

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A review of filamin A mutations and associated interstitial lung disease.

Eur J Pediatr 2019 Feb 13;178(2):121-129. Epub 2018 Dec 13.

Clinical Genetics Department, Our Lady's Children's Hospital, Dublin, Ireland.

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http://link.springer.com/10.1007/s00431-018-3301-0
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http://dx.doi.org/10.1007/s00431-018-3301-0DOI Listing
February 2019

Type VI syndactyly with skeletal dysplasia: a new syndrome?

Clin Dysmorphol 2019 Jan;28(1):30-34

Departments of Clinical Genetics.

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http://dx.doi.org/10.1097/MCD.0000000000000238DOI Listing
January 2019

Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.

Front Neurol 2018 29;9:1194. Epub 2019 Jan 29.

Department of Neurology, The Adelaide and Meath Hospital, Dublin, Incorporating The National Children's Hospital (AMNCH)/Tallaght University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.3389/fneur.2018.01194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362309PMC
January 2019

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

Am J Med Genet A 2017 May 20;173(5):1374-1377. Epub 2017 Mar 20.

Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.38128DOI Listing
May 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Cell Rep 2016 10;17(3):735-747

Queensland Brain Institute, The University of Queensland, St. Lucia, QLD 4072, Australia; The School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094913PMC
October 2016

Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings.

Clin Dysmorphol 2016 Apr;25(2):45-9

Departments of aClinical Genetics bRadiology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland cDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1097/MCD.0000000000000116DOI Listing
April 2016

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.

Clin Dysmorphol 2016 Jan;25(1):23-6

aDepartment of Clinical Genetics, Our Lady's Children Hospital Crumlin bDepartment of Radiology, Temple Street Childrens University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000102DOI Listing
January 2016

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

Clin Dysmorphol 2015 Oct;24(4):135-9

aDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland bDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester cDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000092DOI Listing
October 2015

Three new families with recurrent male miscarriages and hypercoiled umbilical cord.

Clin Dysmorphol 2015 Jul;24(3):128-31

aDivision of Genetics bDivision of Maternal Fetal Medicine, Tufts Medical Center, Boston, Massachusetts cSt Joseph Mercy Oakland, Pontiac, Michigan, USA dDepartment of Genetics, University of Pretoria, Pretoria, South Africa eNational Maternity Hospital, Dublin 2, Ireland.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000084DOI Listing
July 2015

Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.

Cardiol Young 2015 Jun 15;25(5):1019-21. Epub 2014 Jul 15.

1Department of Paediatric Cardiology,Our Lady's Hospital for Sick Children,Crumlin,Dublin,Ireland.

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http://www.journals.cambridge.org/abstract_S1047951114001279
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http://dx.doi.org/10.1017/S1047951114001279DOI Listing
June 2015

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

Am J Med Genet A 2012 Sep 27;158A(9):2254-7. Epub 2012 Jul 27.

National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.35479DOI Listing
September 2012

Elevated TSH levels in a mentally retarded boy.

Eur J Pediatr 2010 May;169(5):573-5

National Centre for Inherited Metabolic Disorders, Children's University Hospital and Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1007/s00431-009-1075-0DOI Listing
May 2010

Clinical and radiological findings in Schinzel-Giedion syndrome.

Eur J Pediatr 2008 Dec 7;167(12):1399-407. Epub 2008 May 7.

Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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http://dx.doi.org/10.1007/s00431-008-0683-4DOI Listing
December 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome.

Clin Dysmorphol 2008 Jul;17(3):199-202

Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0b013e3282f5f4e3DOI Listing
July 2008

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.

Am J Med Genet A 2008 May;146A(10):1296-8

Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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http://doi.wiley.com/10.1002/ajmg.a.32250
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http://dx.doi.org/10.1002/ajmg.a.32250DOI Listing
May 2008

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Eur J Hum Genet 2008 Feb 28;16(2):184-91. Epub 2007 Nov 28.

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://www.nature.com/articles/5201968
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http://dx.doi.org/10.1038/sj.ejhg.5201968DOI Listing
February 2008

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Am J Med Genet A 2008 Jan;146A(2):233-7

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland.

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http://dx.doi.org/10.1002/ajmg.a.32088DOI Listing
January 2008

A survey of assisted reproductive technology births and imprinting disorders.

Hum Reprod 2007 Dec 5;22(12):3237-40. Epub 2007 Oct 5.

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dem268DOI Listing
December 2007

Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

Am J Med Genet A 2007 Nov;143A(21):2588-91

National Centre for Medical genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.31699DOI Listing
November 2007

Bilateral optic disk swelling in the 4q34 deletion syndrome.

J AAPOS 2007 Oct;11(5):516-8

Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.jaapos.2007.05.009DOI Listing
October 2007

Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).

Clin Dysmorphol 2007 Jul;16(3):177-9

National Maternity Hospital, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0b013e3281e668bfDOI Listing
July 2007

Kallmann syndrome presenting as congenital ptosis in brothers.

Authors:
William Reardon

Clin Dysmorphol 2007 Jul;16(3):207-8

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0b013e3280b10bebDOI Listing
July 2007

Characterization of optical coherence topography findings in Kenny-Caffey syndrome.

J AAPOS 2007 Jun 13;11(3):291-3. Epub 2007 Mar 13.

Royal Victoria Eye and Ear Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.jaapos.2006.09.020DOI Listing
June 2007

Bipolar affective disorder associated with 11q24.2 disruption--a second report.

Am J Med Genet A 2007 Jun;143A(12):1263-7

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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http://doi.wiley.com/10.1002/ajmg.a.31749
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http://dx.doi.org/10.1002/ajmg.a.31749DOI Listing
June 2007

Dysmorphology demystified.

Arch Dis Child Fetal Neonatal Ed 2007 May;92(3):F225-9

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12.

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http://dx.doi.org/10.1136/adc.2006.110619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675338PMC
May 2007

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Eur J Hum Genet 2007 Mar 10;15(3):379-82. Epub 2007 Jan 10.

The Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201762DOI Listing
March 2007

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

Clin Dysmorphol 2007 Jan;16(1):21-5

Clinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK.

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https://insights.ovid.com/crossref?an=00019605-200701000-000
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http://dx.doi.org/10.1097/01.mcd.0000228426.97284.ffDOI Listing
January 2007

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Clin Dysmorphol 2006 Jul;15(3):127-32

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK.

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http://dx.doi.org/10.1097/01.mcd.0000203632.86190.64DOI Listing
July 2006

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Pediatr Surg Int 2006 Apr 17;22(4):384-6. Epub 2006 Feb 17.

Our Lady's Hospital for Sick Children, Crumlin, 12, Dublin, Ireland.

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http://dx.doi.org/10.1007/s00383-006-1637-4DOI Listing
April 2006

The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.

Cardiol Young 2006 Feb;16(1):30-3

Department of Pediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://www.journals.cambridge.org/abstract_S1047951105002052
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http://dx.doi.org/10.1017/S1047951105002052DOI Listing
February 2006

Assisted reproduction technology and defects of genomic imprinting.

BJOG 2005 Dec;112(12):1589-94

Human Assisted Reproduction Ireland, Rotunda Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/j.1471-0528.2005.00784.xDOI Listing
December 2005

Asplenia in ATR-X syndrome: a second report.

Am J Med Genet A 2005 Nov;139(1):37-9

Regional Hospital, Limerick, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.30990DOI Listing
November 2005

Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Am J Med Genet A 2004 Nov;131(1):82-5

Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.30309DOI Listing
November 2004

Congenital cardiac disease as a core feature of cranio-osteoarthropathy.

Clin Dysmorphol 2004 Oct;13(4):213-9

Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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October 2004

Moebius sequence and hypogonadotrophic hypogonadism.

Am J Med Genet A 2003 Nov;123A(1):107-10

Our Lady's Hospital for Sick Children, National Centre for Medical Genetics, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.20500DOI Listing
November 2003

Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?

Am J Med Genet A 2003 Sep;122A(1):84-8

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.20278DOI Listing
September 2003

Broad thumbs and halluces with deafness: a patient with Keipert syndrome.

Am J Med Genet A 2003 Apr;118A(1):86-9

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.10063DOI Listing
April 2003

Congenital ptosis with esotropia in brothers.

Clin Dysmorphol 2003 Apr;12(2):115-7

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 2, Ireland.

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http://dx.doi.org/10.1097/01.mcd.0000050742.67514.eaDOI Listing
April 2003

Okihiro syndrome is caused by SALL4 mutations.

Hum Mol Genet 2002 Nov;11(23):2979-87

Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1093/hmg/11.23.2979DOI Listing
November 2002

Genitopatellar syndrome: a recognizable phenotype.

Authors:
William Reardon

Am J Med Genet 2002 Aug;111(3):313-5

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.10590DOI Listing
August 2002

Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome.

Clin Dysmorphol 2002 Jan;11(1):25-8

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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January 2002