Sally A Lynch

Sally A Lynch

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Sally A Lynch

Sally A Lynch

Publications by authors named "Sally A Lynch"

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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Eur J Med Genet 2019 Mar 18;62(3):204-209. Epub 2018 Jul 18.

Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183007
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http://dx.doi.org/10.1016/j.ejmg.2018.07.015DOI Listing
March 2019

Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.

Am J Med Genet A 2018 05 10;176(5):1180-1183. Epub 2018 Feb 10.

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

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http://doi.wiley.com/10.1002/ajmg.a.38632
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http://dx.doi.org/10.1002/ajmg.a.38632DOI Listing
May 2018

Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion.

Clin Dysmorphol 2017 Jul;26(3):181-184

Departments of aInfectious Disease bEar, Nose and Throat cRadiology dClinical Genetics, Children's University Hospital Temple Street, Dublin, Republic of Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000178DOI Listing
July 2017

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Epilepsia 2017 07;58(7):1301-1302

Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/epi.13794DOI Listing
July 2017

Incidence of Fragile X syndrome in Ireland.

Am J Med Genet A 2017 Mar 3;173(3):678-683. Epub 2017 Feb 3.

National Rare Diseases Office, Mater Misericordiae Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.38081DOI Listing
March 2017

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

Am J Med Genet A 2017 Jan 24;173(1):274-279. Epub 2016 Oct 24.

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

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http://dx.doi.org/10.1002/ajmg.a.38001DOI Listing
January 2017

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Am J Med Genet A 2016 Nov 18;170(11):3048-3050. Epub 2016 Jul 18.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.37849DOI Listing
November 2016

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Clin Dysmorphol 2016 Oct;25(4):146-51

aDepartment of Clinical Genetics bNational Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital cUCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin dDepartment of Clinical Genetics, Our Lady's Children's Hospital, Dublin eNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000134DOI Listing
October 2016

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

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

J Hum Genet 2016 Aug 19;61(8):761-4. Epub 2016 May 19.

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

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http://dx.doi.org/10.1038/jhg.2016.44DOI Listing
August 2016

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

Epilepsy Behav Case Rep 2016 23;6:42-8. Epub 2016 Apr 23.

Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ebcr.2016.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4969243PMC
August 2016

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Epilepsia 2016 Jan 9;57(1):e12-7. Epub 2015 Dec 9.

Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/epi.13250DOI Listing
January 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Eur J Paediatr Neurol 2015 Jul 10;19(4):390-4. Epub 2015 Apr 10.

Department of Child Neurology & Clinical Neurophysiology, Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ejpn.2015.03.010DOI Listing
July 2015

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Eur J Hum Genet 2015 Feb 14;23(2):210-7. Epub 2014 May 14.

1] Genetics Department, Temple Street Children's University Hospital, Dublin 1, Ireland [2] Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Belfield, Dublin 4, Ireland [3] National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.79
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http://dx.doi.org/10.1038/ejhg.2014.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297907PMC
February 2015

The variable phenotypes of KCNQ-related epilepsy.

Epilepsia 2014 Sep 22;55(9):e99-105. Epub 2014 Jul 22.

Department of Paediatric Neurology & Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/epi.12715DOI Listing
September 2014

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.

Am J Med Genet A 2014 Jul 3;164A(7):1863-6. Epub 2014 Apr 3.

Department of Child Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.36532DOI Listing
July 2014

Vocal cord paralysis in association with 9q34 duplication.

Clin Dysmorphol 2014 Jul;23(3):105-8

aNational Centre for Medical Genetics bDepartment of Paediatric Otolaryngology, Our Lady's Children's Hospital Crumlin cDepartment of Genetics, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000040DOI Listing
July 2014

Towards the identification of a genetic basis for Landau-Kleffner syndrome.

Epilepsia 2014 Jun 14;55(6):858-65. Epub 2014 May 14.

Department of Genetics, Children's University Hospital, Dublin, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1111/epi.12645DOI Listing
June 2014

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population.

J Clin Endocrinol Metab 2008 Jul 22;93(7):2896-9. Epub 2008 Apr 22.

Developmental Endocrinology Research Group, Clinical Molecular Genetics Unit, Level 3, Institute of Child Health, 30 Guilford Street, London, United Kingdom.

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http://dx.doi.org/10.1210/jc.2008-0034DOI Listing
July 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Adults with Down's syndrome: the prevalence of complications and health care in the community.

Br J Gen Pract 2007 Jan;57(534):50-5

Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2032701PMC
January 2007

Malpuech syndrome: facial features in the absence of clefting.

Clin Dysmorphol 2006 Oct;15(4):243-4

Temple Street Children's Hospital, OLHSC, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1097/01.mcd.0000220621.85896.46DOI Listing
October 2006