Sally Ann Lynch

Sally Ann Lynch

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Sally Ann Lynch

Sally Ann Lynch

Publications by authors named "Sally Ann Lynch"

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The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Jul 14;96(1):72-84. Epub 2019 May 14.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
July 2019

Towards establishing consistency in triage in a tertiary specialty.

Eur J Hum Genet 2019 Apr 8;27(4):547-555. Epub 2019 Jan 8.

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

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http://dx.doi.org/10.1038/s41431-018-0322-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460635PMC
April 2019

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.

Eur J Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

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

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http://dx.doi.org/10.1038/s41431-019-0391-8DOI Listing
April 2019

A perinatal approach to genetic disorders in Irish Travellers: A review.

Eur J Obstet Gynecol Reprod Biol 2018 Sep 9;228:43-47. Epub 2018 Jun 9.

National Rare Disease Office, Mater Misericordiae University Hospital, Dublin 7, Ireland; UCD Academic Centre on Rare Diseases, University College Dublin, Dublin 4 Ireland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03012115183029
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http://dx.doi.org/10.1016/j.ejogrb.2018.06.013DOI Listing
September 2018

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Arch Dis Child 2018 Mar 22;103(3):304. Epub 2017 Sep 22.

Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1136/archdischild-2017-313240DOI Listing
March 2018

The contribution of 7q33 copy number variations for intellectual disability.

Neurogenetics 2018 01 19;19(1):27-40. Epub 2017 Dec 19.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

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http://dx.doi.org/10.1007/s10048-017-0533-5DOI Listing
January 2018

FOXN1 Duplication and Congenital Hypertrichosis.

Pediatr Dermatol 2017 Mar;34(2):e77-e79

Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.

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http://dx.doi.org/10.1111/pde.13078DOI Listing
March 2017

Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

Eur J Pediatr 2017 Jan 8;176(1):137-142. Epub 2016 Nov 8.

Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland.

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http://link.springer.com/10.1007/s00431-016-2802-y
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http://dx.doi.org/10.1007/s00431-016-2802-yDOI Listing
January 2017

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

Prenat Diagn 2016 Nov 2;36(11):1020-1026. Epub 2016 Oct 2.

Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/pd.4925DOI Listing
November 2016

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.

J Pediatr Urol 2016 Oct 3;12(5):283.e1-283.e7. Epub 2016 Mar 3.

Department of Paediatric Surgery, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

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https://linkinghub.elsevier.com/retrieve/pii/S14775131160006
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http://dx.doi.org/10.1016/j.jpurol.2016.02.009DOI Listing
October 2016

One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.

J Pediatr Hematol Oncol 2016 08;38(6):e191-2

*Our Lady's Childrens Hospital, Crumlin †Children's University Hospital, Temple Street, Dublin, Ireland.

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http://dx.doi.org/10.1097/MPH.0000000000000619DOI Listing
August 2016

Friedreich Ataxia in Classical Galactosaemia.

JIMD Rep 2016 29;26:1-5. Epub 2015 Jul 29.

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

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http://link.springer.com/10.1007/8904_2015_477
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http://dx.doi.org/10.1007/8904_2015_477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864715PMC
May 2016

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Hum Mol Genet 2016 05 21;25(9):1824-35. Epub 2016 Feb 21.

Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland, UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences.

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http://dx.doi.org/10.1093/hmg/ddw054DOI Listing
May 2016

Wide disparity of clinical genetics services and EU rare disease research funding across Europe.

J Community Genet 2016 Apr 4;7(2):119-26. Epub 2015 Nov 4.

Department of Pathology, University of Malta, Msida, Malta.

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http://dx.doi.org/10.1007/s12687-015-0256-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796048PMC
April 2016

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

J Inherit Metab Dis 2015 Nov 28;38(6):1085-92. Epub 2015 Apr 28.

UCD Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.

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http://link.springer.com/10.1007/s10545-015-9849-1
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http://dx.doi.org/10.1007/s10545-015-9849-1DOI Listing
November 2015

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.

Am J Med Genet A 2015 Aug 21;167A(8):1916-20. Epub 2015 Apr 21.

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

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http://dx.doi.org/10.1002/ajmg.a.37114DOI Listing
August 2015

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

Am J Med Genet A 2014 Nov 14;164A(11):2958-60. Epub 2014 Aug 14.

Department of Plastic Surgery, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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http://doi.wiley.com/10.1002/ajmg.a.36712
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http://dx.doi.org/10.1002/ajmg.a.36712DOI Listing
November 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

Eur J Med Genet 2014 Feb 3;57(2-3):55-9. Epub 2014 Feb 3.

Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland; National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland; Genetics Department, Children's University Hospital, Temple Street, Dublin 1, Ireland. Electronic address:

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http://researchrepository.ucd.ie/bitstream/handle/10197/5689
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http://linkinghub.elsevier.com/retrieve/pii/S176972121400025
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http://dx.doi.org/10.1016/j.ejmg.2014.01.007DOI Listing
February 2014

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

Eur J Med Genet 2012 Aug-Sep;55(8-9):476-9. Epub 2012 Apr 25.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.03.010DOI Listing
November 2012

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Am J Med Genet A 2012 Aug 18;158A(8):1865-76. Epub 2012 Jun 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402612PMC
August 2012

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

Clin Dysmorphol 2012 Apr;21(2):91-2

Department of Neurology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0b013e328351639dDOI Listing
April 2012

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

What price a diagnosis?

Authors:
Sally Ann Lynch

Dev Med Child Neurol 2011 Nov 16;53(11):971. Epub 2011 Aug 16.

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

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04085.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04085.xDOI Listing
November 2011

Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics.

J Genet Couns 2011 Apr 6;20(2):192-203. Epub 2011 Jan 6.

Institute of Medical Genetics, Heath Park, Cardiff University, Cardiff, CF14 4XN, UK.

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http://link.springer.com/10.1007/s10897-010-9337-6
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http://dx.doi.org/10.1007/s10897-010-9337-6DOI Listing
April 2011

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

Am J Med Genet A 2009 May;149A(5):997-1000

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

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http://doi.wiley.com/10.1002/ajmg.a.32771
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http://dx.doi.org/10.1002/ajmg.a.32771DOI Listing
May 2009

A case of persistent pulmonary hypertension in a newborn with Costello syndrome.

Clin Dysmorphol 2008 Oct;17(4):287-8

Children's University Hospital, Dublin, Ireland.

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https://insights.ovid.com/crossref?an=00019605-200810000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283079e68DOI Listing
October 2008

A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.

Pediatr Cardiol 2008 Jul 19;29(4):820-2. Epub 2008 Feb 19.

Department of Paediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, 12, Ireland.

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http://link.springer.com/content/pdf/10.1007/s00246-008-9197
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http://link.springer.com/10.1007/s00246-008-9197-0
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http://dx.doi.org/10.1007/s00246-008-9197-0DOI Listing
July 2008

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

Am J Med Genet A 2008 Jun;146A(12):1587-92

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

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http://doi.wiley.com/10.1002/ajmg.a.32347
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http://dx.doi.org/10.1002/ajmg.a.32347DOI Listing
June 2008

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Eur J Hum Genet 2008 Jan 17;16(1):18-27. Epub 2007 Oct 17.

National Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201932DOI Listing
January 2008

High prevalence of Cohen syndrome among Irish travellers.

Clin Dysmorphol 2007 Oct;16(4):257-9

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

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https://insights.ovid.com/crossref?an=00019605-200710000-000
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http://dx.doi.org/10.1097/MCD.0b013e3282742530DOI Listing
October 2007

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Eur J Hum Genet 2007 Aug 4;15(8):898-901. Epub 2007 Apr 4.

Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201826DOI Listing
August 2007

Diencephalic cachexia of infancy: Russell's syndrome.

Clin Dysmorphol 2006 Oct;15(4):253-4

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

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http://dx.doi.org/10.1097/01.mcd.0000220622.80058.5bDOI Listing
October 2006

Health of the world's Roma population.

Lancet 2006 Aug;368(9535):575

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http://dx.doi.org/10.1016/S0140-6736(06)69187-3DOI Listing
August 2006

Agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21.

Clin Dysmorphol 2006 Jul;15(3):149-51

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

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https://insights.ovid.com/crossref?an=00019605-200607000-000
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http://dx.doi.org/10.1097/01.mcd.0000198933.16953.dbDOI Listing
July 2006

Non-multifactorial neural tube defects.

Authors:
Sally Ann Lynch

Am J Med Genet C Semin Med Genet 2005 May;135C(1):69-76

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.c.30055DOI Listing
May 2005

Widespread capillary malformation associated with global developmental delay and megalencephaly.

Clin Dysmorphol 2004 Jul;13(3):169-72

Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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July 2004

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom.

Birth Defects Res A Clin Mol Teratol 2004 Jul;70(7):483-5

Genetics Department, Westlakes Research Institute, Cumbria, United Kingdom.

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http://dx.doi.org/10.1002/bdra.20038DOI Listing
July 2004

Who supports the support workers? Cross-sectional survey of support workers' experience and views.

Eur J Hum Genet 2004 Mar;12(3):251-4

Institute of Human Genetics, International Centre for Life Central Parkway, Newcastle-upon-Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201148DOI Listing
March 2004

Mutations in SOX2 cause anophthalmia.

Nat Genet 2003 Apr 3;33(4):461-3. Epub 2003 Mar 3.

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/ng1120DOI Listing
April 2003