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researcher

Sally Lynch

Associate Professor

School of Medicine
Temple Street Children's Hospital
Temple Street
Dublin 1

Tel: 353 1 409 6298
Email: sally.lynch@ucd.ie

Biography

(1) My research interests are in rare diseases. My group has had success in identification of several rare disease genes and have developed simple cost-effective genetic tests, which have been translated into the diagnostic laboratory. Some of these disorders are unique to Ireland. Local research is important as researchers can feedback results quickly which generates interest and new collaborations. I have also an interest in education using new technologies. We have developed a microsite, http://www.ucd.ie/medicine/rarediseases/ which contains information for use by GPs and other Health care professionals on common genetic topics. We have included information on our research, carrier testing, etc. We have developed nine animation videos on consanguinity, inheritance patterns and chromosomal translocations and inversions. These videos have been uploaded on the UCD Youtube channel. https://www.youtube.com/user/UCDMedicine/videos

I continue to collaborate with Dr Jillian Casey and Dr Sean Ennis who work with Genomics medicine Ireland.

I had two medical students over the summer of 2016. One working on identifying all the Duchenne & Becker muscular dystrophy families (no. >120) and updating the mutations to ensure our data is trial ready. This project is in conjunction with Ms Jackie Turner, genetic counsellor.
The second medical student worked on collating all the known Irish Traveller disorders and mutations. He also helped with collating all the relevant publications. In addition, we worked on a workforce planning project looking at time spend organising pre-natal testing through the Clinical Genetics service. 

Professional

Honours and Awards

Year: 0.
Title: Education Grant, 5,000euro

Associations

Association: Irish Society of Human Genetics, Function/Role: Member
Association: European Socity of Human Genetics, Function/Role: Member
Association: British Society of Human Genetics, Function/Role: Member
     

Conference Contributions

Casey, J; Crushell, E; Hughes, J; Cox, D; Elnazir, B; White, M; Dorkins, H; Ennis, S; Murphy, H; Lynch, SA (2014) Known knowns, known unknowns and unknowns unknowns ¿ the challenges of exome data analysis. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital, Dublin, Ireland , 20-JUN-14 - 20-JUN-14.
Casey, J; Crushell, E; Lynch, SA (2015) Roadblocks to reaching a final diagnosis with next-generation sequencing. [Poster Presentation], European Society of Human Genetics, Glasgow, Scotland , 06-JUN-15 - 09-JUN-15.
Casey, J; Crushell, E; Bermingham, N; Cryan, J; Hughes, J; Lynch, SA (2015) When does an exome finding become a diagnosis?. [Oral Presentation], Joint Irish Paediatric Association/Ulster Paediatric Society Annual Meeting, Limerick , 08-MAY-15 - 09-MAY-15.
Neville, S; Sweeney, B; O'Sullivan, S; Lynch, B; Hanrahan, D; Knerr, I; Lynch, SA; Crushell, E (2015) Friedrich ataxia in classical galactosaemia. [Oral Presentation], British Inherited Metabolic Disorders (BIMDG) Annual Meeting, Belfast , 18-JUN-15 - 19-JUN-15.
Lynch, SA; Turner, JA; Casey, J (2015) Youtube, animation and genetic education. [Poster Presentation], Irish Society for Human Genetics, Dublin , 04-SEP-15 - 04-SEP-15.
O'Byrne, JJ; Sweeney, M; Donnelly, DE; Lambert, D; Beattie, D; Gervin, CM; Graham, CA; Barton, DE; Lynch, SA (2015) Incidence of fragile X syndrome in Ireland - an all Ireland study. [Poster Presentation], European Human Genetics Conference, Glasgow, UK , 06-JUN-15 - 09-JUN-15.
Sally Ann Lynch J Turner & J Casey (2014) New approaches to bridge the gap between research and primary health care in Ireland. [Oral Presentation], European Society of Human Genetics, Milan Italy , 01-JUN-14 - 01-JUN-14.
Sally Ann Lynch (2015) Beware the genome. [Invited Lecture], British Society of Paediatric Endocrinology and Diabetes Meeting, Sheffield , 27-NOV-15 - 27-NOV-15.
Sa Lynch, J Turner & J Casey (2015) YouTube animation and Genetic education. [Poster Presentation], European society of Human Genetics, Glasgow , 06-JUN-15 - 09-JUN-15.
Sally Ann Lynch (2015) beware the genome. [Invited Lecture], Margaret Sinnott Memorial Conference, Catherine McAuley Eccles street , 12-JUN-15 - 12-JUN-15.
Sally Ann Lynch (2015) discussion on genome sequencing challanges. [Invited Lecture], Transitional Care - Mind the Gap, Herbert Park Hotel Ballsbridge, Dublin 4 , 24-APR-15 - 24-APR-15.
SA Lynch (2014) Whats in a genome and how its relevant to inherited cardiac disorders. [Invited Lecture], Inherited cardiac disorders, James Connolly Memorial Hospital , 22-MAR-14 - 22-MAR-14.
JP Casey, H Murphy, S Ennis, Sally Ann Lynch. (2013) The Microcephaly Mystery: Complications of disease gene identification in a consanguineous population. [Oral Presentation], Irish Society of Human genetics, Belfast , 06-SEP-13 - 06-SEP-13.
SA Lynch, H Murphy, S Ennis & JP Casey (2013) Microcephaly- a tale of two clans. [Oral Presentation], David Smith birth Defects meeting, Mont tremblant Quebec canada , 10-AUG-13 - 10-AUG-13.
SA Lynch (2013) Why should governments fund Clinical genetic services (when times are hard)?. [Oral Presentation], European Society of Human Genetics, Paris , 09-JUN-13 - 09-JUN-13.
SA Lynch (2013) Whats in a genome?. [Invited Oral Presentation], British society for paediatric and adolescent rheumatology, Dublin Castle , 03-OCT-14 - 03-OCT-14.
SA Lynch, H Murphy S Ennis & JP Casey (2012) Making matches- linking large Irish Traveller pedigrees to; a) aid with disease gene identification & b) understand the demographics of this endogamous community. [Oral Presentation], Irish and American Paediatric Society Meeting, Belfast , 26-SEP-12 - 28-SEP-12.
J. Casey, M. Nobbs, P. McGettigan, SA. Lynch, S. Ennis. (2012) A single mutation that affects two genes; MCM4 and PRKDC cause a primary immunodeficiency, disorder of DNA repair and familial glucocorticoid deficiency. [Oral Presentation], Our Lady's Children's Hospital Research and Audit Day, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland , 25-MAY-12 - 25-MAY-12.
J. Casey, M. Nobbs, P. McGettigan, SA. Lynch, S. Ennis. (2012) Recessive mutations in MCM4/PRKDC cause a novel syndrome characterised by a primary immunodeficiency and impairments in DNA repair. [Poster Presentation (Refereed)], European Society of Human Genetics, Nurnberg, Germany , 23-JUN-12 - 26-JUN-12.
J. Casey, J. Conroy, R. Regan, E. Crushell, SA Lynch, S. Ennis. (2011) Identification of a novel disease gene for pediatric mitochondrial disease. [Oral Presentation], Irish Society of Human Genetics, University College Dublin, Dublin, Ireland , 14-SEP-11 - 14-SEP-11.
J. Casey, E. Crushell, J. Conroy, R. Regan, B. Bourke, SA. Lynch, S. Ennis. (2011) From research to genetic diagnosis: keeping up with the next-generation. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital , Dublin, Ireland , 08-JUL-11 - 08-JUL-11.
J. Casey, J. Conroy, R. Regan, N. Shah, E. B. Crushell, SA. Lynch, S. Ennis. (2010) The use of whole exome sequencing and linkage analysis to identify novel candidate loci for pediatric mitochondrial disorder. [Oral Presentation], American Society of Human Genetics, Washington, USA , 02-NOV-10 - 06-NOV-10.
J. Casey, J. Conroy, R. Regan, N. Shah, T. Magelhaes, A. Green, SA. Lynch, S. Ennis. (2009) The use of SNP homozygosity mapping to identify disease genes in Irish families. [Oral Presentation], Irish Society of Human Genetics, Dublin College University, Dublin, Ireland , 18-SEP-09 - 18-SEP-09.

Committees

Committee : National Clinical programme for Rare Disease
Committee : ICHMT
         

Journals Edited

American Journal Of Medical Genetics: Reviewer.
 

Publications

Books

Casey J, O' Shea R, Turner J, Ward A, Byrne M, Lynch SA (2013) Guidelines for Primary Healthcare Professionals: Genetic Testing and Risk Assessment of Rare Disorders. Dublin: NCMG, UCD, NCRC. [Details]
   

Peer Reviewed Journals

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA (2017) 'Incidence of Fragile X syndrome in Ireland'. American Journal of Medical Genetics, Part A, . Available Online [DOI] [Details]
O'Byrne JJ, Ryan H, Murray DJ, Regan R, Betts DR, Murphy N, Casey JP, Lynch SA (2017) 'Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation'. American Journal of Medical Genetics, Part A, 173 (1):274-279. Available Online [DOI] [Details]
Walsh O, Heffernan C Ryan S, Butler K & Lynch SA (2017) 'Congenital radial head dislocation and low IgM levels in 6p25.3 deletion'. Clinical Dysmorphology, . [Details]
Deciphering Developmental Disorders study (2017) 'Prevalence and architecture of de novo mutations in developmental disorders'. Nature, . Available Online [DOI] [Details]
O'Byrne JJ, Ryan H, Murray DJ, Regan R, Betts DR, Murphy N, Casey JP, Lynch SA. (2017) 'Cover Image, Volume 173A, Number 1, January 2017'. American Journal of Medical Genetics, Part A, 173 (1). Available Online [DOI] [Details]
Allen NM, Conroy J;Shahwan A;Lynch B;Correa RG;Pena SD;McCreary D;Magalh¿¿es TR;Ennis S;Lynch SA;King MD (2016) 'Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion'. Epilepsia, 57 (1):1-1. [DOI] [Details]
O'Riordan AM, McGrath N, Sharif F, Murphy NP, Franklin O, Lynch SA, O'Grady MJ. (2016) 'Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance'. European Journal of Pediatrics, . Available Online [DOI] [Details]
McDonnell R, Monteith C, Kennelly M, Martin A, Betts D, Delany V, Lynch SA, Coulter-Smith S, Sheehan S, Mahony R. (2016) 'Epidemiology of chromosomal trisomies in the East of Ireland'. Journal of Public Health, . [Details]
Casey J, Flood K, Ennis S, Doyle E, Farrell M, Lynch SA. (2016) 'Intra-familial variability associated with recessive RYR1 mutation diagnosed antenatally by exome sequencing'. Prenatal Diagnosis, . [Details]
Allen NM, Conroy J, Deonna T, McCreary D, McGettigan P, Madigan C, Carter I, Ennis S, Lynch SA, Shahwan A, King MD (2016) 'Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder'. Epilepsy and Behavior Case Reports, . [Details]
Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA. (2016) 'Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects'. Human Molecular Genetics, . [DOI] [Details]
Neville, S; O'Sullivan, S; Sweeney, B; Lynch, B; Hanrahan, D; Knerr, I; Lynch, SA; Crushell, E (2016) 'Friedreich ataxia in classical galactosaemia'. JIMD reports, 26 :1-5. [Details]
Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. (2016) 'Novel European SLC1A4 variant: infantile spasms and population ancestry analysis'. Journal of Human Genetics, . [Details]
Coyle D, Kutasy B, Han Suyin K, Antao B, Lynch SA, McDermott MB, O'Connell SM, Quinn F (2016) 'Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience'. Journal of Pediatric Urology, . [Details]
Casey J, Jenkinson A, Magee A, Ennis S, Monavari A, Green A, Lynch SA, Crushell E, Hughes J. (2016) 'Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies'. Clinical Dysmorphology, . [Details]
Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. (2016) 'Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway'. Human Mutation, . [Details]
Butler GH, Boyle M, Lynch SA, Ryan S, McDermott M, Capra M. (2016) 'One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome'. Journal of Pediatric Hematology/Oncology, . [Details]
Hamilton MJ1, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study. (2016) 'Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum'. Clinical Dysmorphology, . [Details]
Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. (2016) 'Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations'. American Journal of Medical Genetics, Part A, . [Details]
Casey JP, Crushell E, Thompson K, Twomey E, He L, Ennis S, Philip RK, Taylor RW, King MD, Lynch SA. (2015) 'Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?'. Journal Of Inherited Metabolic Disease, . [Details]
Casey JP, Slattery S;Cotter M;Monavari AA;Knerr I;Hughes J;Treacy EP;Devaney D;McDermott M;Laffan E;Wong D;Lynch SA;Bourke B;Crushell E (2015) 'Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS'. Journal of Inherited Metabolic Disease, 38 (6):1085-1092. [DOI] [Details]
O'Shea R, Meany M, Carroll C, Cody N, Healy D, Green A, Lynch SA. (2015) 'Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland'. Journal of Genetic Counseling, . [Details]
Casey JP, Støve SI, McGorrian C, Galvin J, Blenski M, Dunne A, Ennis S, Brett F, King MD, Arnesen T, Lynch SA. (2015) 'NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment'. Scientific Reports, Sci Rep. 2015 Nov 2;5:16022. doi: 10.1038/srep16022. PMID: 26522270 . [Details]
Ratbi I, Falkenberg KD;Sommen M;Al-Sheqaih N;Guaoua S;Vandeweyer G;Urquhart JE;Chandler KE;Williams SG;Roberts NA;El Alloussi M;Black GC;Ferdinandusse S;Ramdi H;Heimler A;Fryer A;Lynch SA;Cooper N;Ong KR;Smith CE;Inglehearn CF;Mighell AJ;Elcock C;Poulter JA;Tischkowitz M;Davies SJ;Sefiani A;Mironov AA;Newman WG;Waterham HR;Van Camp G (2015) 'Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6'. American Journal of Human Genetics, 97 (4):535-545. [DOI] [Details]
Casey, J.P. and McGettigan, P.A. and Healy, F. and Hogg, C. and Reynolds, A. and Kennedy, B.N. and Ennis, S. and Slattery, D. and Lynch, S.A. (2015) 'Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population'. European Journal of Human Genetics, 23 (2):210-217. Available Online [DOI] [Details]
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. (2015) 'Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data'. Lancet, . [Details]
Deciphering Developmental Disorders Study. (2015) 'Large-scale discovery of novel genetic causes of developmental disorders'. Nature, . [Details]
O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F. (2015) 'Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations'. Irish Journal of Medical Science, . [Details]
Wilson BT, Omer M, Hellens SW, Zwolinski SA, Yates LM, Lynch SA. (2015) 'Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay'. American Journal of Medical Genetics Part A, . [Details]
Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. (2015) 'Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort'. European Journal of Paediatric Neurology, . [Details]
Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E. (2015) 'Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS'. Journal Of Inherited Metabolic Disease, . [Details]
Casey JP, Goggin P, McDaid J, White M, Ennis S, Betts DR, Lucas JS, Elnazir B, Lynch SA. (2015) 'A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder'. BMC Medical Genetics, . [Details]
Conroy J, Allen NM, Gorman K, Shahwan A, Ennis S, Lynch SA, King MD. (2015) 'NAPB - A Novel SNARE Associated Protein for Early Onset Epileptic Encephalopathy'. Clinical Genetics, . [Details]
Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E. (2015) 'Friedreich Ataxia in Classical Galactosaemia'. Journal Of Inherited Metabolic Disease, . [Details]
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. (2015) 'Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling'. American Journal of Human Genetics, . [Details]
Colleran GC, Hayes R, Kearns G, Kavanagh P, Moylett E, Lynch SA (2014) 'Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati - A new syndrome?'. European Journal of Medical Genetics, . [Details]
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. (2014) 'Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism'. Journal of Medical Genetics, . [Details]
Gadancheva VG, Casey JP, Russell JD, McDaid J, Betts DR, Lynch SA. (2014) 'Vocal cord paralysis in association with 9q34 duplication'. Clinical Dysmorphology, . [Details]
Casey, J; McGettigan, P; Brosnahan, D; Curtis, E; Treacy, E; Ennis, S; Lynch, SA. (2014) 'Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria'. European Journal of Medical Genetics, 57 (2-3):55-59. Available Online [DOI] Link to full text [Details]
Seoighe DM, Gadancheva V;Regan R;McDaid J;Brenner C;Ennis S;Betts DR;Eadie PA;Lynch SA (2014) 'A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome'. American Journal of Medical Genetics, Part A, 164A (11):2958-2960. [DOI] [Details]
Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD (2014) 'Towards the identification of a genetic basis for Landau-Kleffner syndrome'. Epilepsia, . [Details]
Allen NM, Mannion M;Conroy J;Lynch SA;Shahwan A;Lynch B;King MD (2014) 'The variable phenotypes of KCNQ-related epilepsy'. Epilepsia, 55 (9):1-105. [DOI] [Details]
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson D, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM25, Holder SE, Harrison V, McConnell V, Lam WK5, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS1, FitzPatrick DR1. (2014) 'Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism'. Journal of Medical Genetics, . [Details]
Jillian P Casey, Dubhfeasa Slattery, Paul McGettigan, Claire Hogg, Alison Reynolds, Breandan N Kennedy Sean Ennis Sally Ann Lynch (2014) 'Surprising genetic heterogeneity with known and novel disease genes for primary ciliary dyskinesia in the Irish Traveller population'. European Journal of Human Genetics, . [Details]
Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD (2014) 'Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient'. American Journal of Medical Genetics Part A, . [Details]
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. (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'. Human Molecular Genetics, . [Details]
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N. (2013) 'Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype'. American Journal of Medical Genetics Part A, . [Details]
Casey, J; McGettigan, P; Healy, F; Hogg, C; Reynolds, A; Kennedy, B; Ennis, S; Slattery, D; Lynch, SA. (2013) 'Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population'. European Journal of Human Genetics, . Available Online [DOI] Link to full text [Details]
White M, Conroy J;Bullman H;Lever M;Daly E;Betts DR;Cody D;Crolla JA;Lynch SA (2013) 'Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?'. Case reports in genetics, 2013 . [DOI] [Details]
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. (2013) 'Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis'. Nature Genetics, . [Details]
Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S (2013) 'A novel locus for episodic ataxia:UBR4 the likely candidate'. European Journal of Human Genetics, . [DOI] [Details]
O'Rourke DJ, Twomey E;Lynch SA;King MD (2012) 'Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding'. Journal of Clinical Dysmorphology, 21 (2):91-92. [DOI] [Details]
Casey J, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O¿ Sullivan J, Crushell E, Lynch SA, Ennis S. (2012) 'Identification of a mutation in LARS as a novel cause of infantile hepatopathy'. Molecular Genetics and Metabolism, 106 (3):351-358. Link to full text [Details]
Casey J, Nobbs M, McGettigan P, Lynch SA, Ennis S. (2012) 'Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair'. Journal of Medical Genetics, 49 (4):242-245. Link to full text [Details]
Lynch, SA,Foulds, N,Thuresson, AC,Collins, AL,Anneren, G,Hedberg, BO,Delaney, CA,Iremonger, J,Murray, CM,Crolla, JA,Costigan, C,Lam, W,Fitzpatrick, DR,Regan, R,Ennis, S,Sharkey, F; (2011) 'The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth'. European Journal of Human Genetics, 19 :534-539. [DOI] [Details]
Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Ní Chróinín M, Kennedy BN, Lynch SA, Green A, Ennis S. (2011) 'First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype'. Human Mutation, 32 (12). Link to full text [Details]
Baker LB, Conroy J, Donoghue V, Mullarkey M, Shah N, Murphy N, Murphy J, Ennis S, Lynch SA (2011) 'Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31-Xp22.12 deletion'. Journal of Clinical Dysmorphology, 20 (1):21-25. [DOI] [Details]
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham Jr JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.; (2010) 'Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations'. Human Mutation, . [Details]
Wormald R, Viani L, Lynch SA, Green AJ; (2010) 'Sensorineural hearing loss in children'. Irish Medical Journal, 103 (2):51-54. [Details]
Foley, P.,Bunyan, D.,Stratton, J.,Dillon, M.,Lynch, S. A.; (2009) 'Further case of Rubinstein-Taybi syndrome due to a deletion in EP300'. Am J Med Genet A, 149A (5):997-1000. Available Online [Details]
Doudney, K.,Grinham, J.,Whittaker, J.,Lynch, S. A.,Thompson, D.,Moore, G. E.,Copp, A. J.,Greene, N. D.,Stanier, P.; (2009) 'Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects'. Am J Med Genet A, 149A (7):1585-9. Available Online [Details]
Shahdadpuri, R.,Lambert, D.,Lynch, S. A.; (2009) 'Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay'. Ir Med J, 102 (5):146-8. Available Online [Details]
Giorda, R.,Bonaglia, M. C.,Beri, S.,Fichera, M.,Novara, F.,Magini, P.,Urquhart, J.,Sharkey, F. H.,Zucca, C.,Grasso, R.,Marelli, S.,Castiglia, L.,Di Benedetto, D.,Musumeci, S. A.,Vitello, G. A.,Failla, P.,Reitano, S.,Avola, E.,Bisulli, F.,Tinuper, P.,Mastrangelo, M.,Fiocchi, I.,Spaccini, L.,Torniero, C.,Fontana, E.,Lynch, S. A.,Clayton-Smith, J.,Black, G.,Jonveaux, P.,Leheup, B.,Seri, M.,Romano, C.,dalla Bernardina, B.,Zuffardi, O.; (2009) 'Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females'. Am J Hum Genet, 85 (3):394-400. Available Online [Details]
Lynch, N. E.,Lynch, S. A.,McMenamin, J.,Webb, D.; (2009) 'Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay'. Arch Dis Child, 94 (7):553-4. Available Online [Details]
Murphy, A. M.,Lambert, D.,Treacy, E. P.,O'Meara, A.,Lynch, S. A.; (2009) 'Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic'. Arch Dis Child, 94 (1):52-4. Available Online [Details]
Chan, L. F.,Metherell, L. A.,Krude, H.,Ball, C.,O'Riordan, S. M.,Costigan, C.,Lynch, S. A.,Savage, M. O.,Cavarzere, P.,Clark, A. J.; (2009) 'Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency'. Clin Endocrinol (Oxf), 71 (2):171-5. Available Online [Details]
Cody N, Green A, McDevitt T, Lynch SA.; (2008) 'Cascade screening in BRCA1/2 mutation carriers'. Irish Medical Journal, 101 (5):140-142. [Details]
Zweier C, Sticht H, Bijlsma E, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. ; (2008) 'Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of sixteen novel patients'. JOURNAL OF MEDICAL GENETICS, 45 (11):738-744. [Details]
Murphy, A. M.,Drumm, B.,Brenner, C.,Lynch, S. A.; (2006) 'Diencephalic cachexia of infancy: Russell's syndrome'. Clin Dysmorphol, 15 (4):253-4. [Details]

Other Journals

Lynch SA & Borg I (2015) 'Wide disparity of clinical genetics services and EU rare disease research funding across Europe' Journal of Community Genetics :1-8. [Details]
L Baker, J Conroy, V Donoghue, M Mullarkey, N Shah, N Murphy, J Murphy. S Ennis & SA Lynch ; (2010) 'Lipomatous cortical dysplasia with lipoma of the corpus callosum associated with an Xp deletion' Clinical Dysmorphology . [Details]
C. Wentzel, S.A. Lynch, E.-L. Stattin, F.H. Sharkey, G. Annerén, A.-C. Thuresson. ; (2010) 'Interstitial Deletions at 6q14.1¿q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype' syndromology . [Details]

Conference Publications

SA Lynch (2013) Why should governements fund Clinical genetic services [when times are hard?] European Society of Human Genetics [Details]
J. P. Casey, J. Conroy, R. Regan, N. Shah, E. B. Crushell, S. A. Lynch, S. Ennis; (2010) The use of whole exome sequencing and linkage analysis to identify novel candidate loci for pediatric mitochondrial disorder ASHG American Society for Human Genetics [Details]
Linda McArdle, Sally Ann Lynch, Sean Ennis, Thomas Morris, David R. Betts; (2009) Tissue Specific Mosaicism of a der(18) in a Developmentally Delayed Boy ISHG Irish Society for Human Genetics [Details]
J. Casey, J. Conroy, R. Regan, N. Shah, T. Magelhaes, A. Green, S A Lynch, S. Ennis,; (2009) The Use of SNP Homozygosity mapping to identify disease genes in Irish Families ISHG Irish Society for Human Genetics [Details]
Sweeney M, Baker L, Graham CA, Barton DE, Lynch SA; (2009) Incidence of Fragile X Syndrome in the Republic of Ireland 12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009 [Details]
Murphy, A.M., Lynch, S.A. Green, A.J.; (2005) Accuracy of a Clinical Diagnosis of Marfan Syndrome Irish Society for Human Genetics , 19-SEP-05 - 19-SEP-05 [Details]

Published Reports

SA Lynch, C Brady, D Betts, et al (2012) 2012 NCMG annual report. NCMG, www.genetics.ie. [Details]
SA Lynch, C Brady, D Betts, A Ward et al (2012) NCMG 2007-2011 report. NCMG, www.genetics.ie. [Details]
SA Lynch & AM Kiernan (2010) Risk Assessment National Centre for Medical Genetics. NCMG, NCMG. [Details]
                                       

Abstract

Casey, J; Lynam-Lennon, N; McGettigan, P; O'Sullivan, J; McDermott, M; Monavari, A; Knerr, I; Hughes, J; Bourke, B; Ennis, S; Lynch, SA; Crushell, E (2013) Recessive mutations in LARS cause a multisystem disorder with infantile liver failure, recurrent hepatopathy, anaemia and epilepsy. Abstract [Details]
Green, A,Casey, J,Kawaguchi, R,Morrissey, M,Sun, H,McGettigan, P,Nielsen, J,Conroy, J,Regan, R,Tormey, P,Chroinin, MN,Kennedy, B,Lynch, SA,Ennis, S (2011) First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma. Abstract [Details]
                                                 

Policy Contribution

SA Lynch & AM Kiernan (2010) Risk Assessment National Centre for Medical Genetics. Policy Contribution [Details]
                                       

Research

Research Interests

My research interests are in rare disease gene identification and its translation into the clinical setting. I have had an interest in disorders found amongst the Irish Traveller population. During the course of this work, we have identified 12 disease genes amongst this population. I am currently collating a list of all known inherited disorders found amongst the Irish Traveller population no.=98 to date. We aim to develop this as an online resource to faciliate rapid diagnosis and hopefully improve prognosis. Education is important particularly in a country with very few specialists. We launched a micro site and a handbook aimed at education of health care professionals. In collaboration with clinicians from differing specialities; we are developing video vignettes on inheritance patterns, genetic testing and some common genetic conditions to help with education of both HCPs & families. We developed nine animation videos have already had 100,000 views on Youtube/ The American Academy of Pediatrics has requested use of the Robertsonian translocation video in their teaching programme. Two of the videos have been translated into French, Spanish, Maltese, Bulgarian, Italian, and Portugese.

Our collaborators on this project include cardiologists, dentists, obstetricians, liver specialists & nutritionists. This work is being ably facilitated by Mr J Matthews, Audio Visual Specialist, Media Services UCD, Links to Animation Videos on YouTube

UCD Medicine Research Centre: Rare Diseases

Understanding Genetics & Rare Diseases

 

http://bit.ly/UCDGeneticsPlaylist

 

http://www.ucd.ie/medicine/rarediseases/understandinggeneticdisorders/

 

www.ucd.ie/medicine/gemini 

Research Projects

Sponsor : University College Dublin (UCD)
Title : Integrating tertiary genetics practice with mainstream medicine
Start Date / End Date : 01-APR-14 / 30-SEP-15

Recent Postgraduates

Dr Jillian Casey, who is still working with me as a post-Doc on a MRCG/HRB/Temple street grant Dec 2013-Nov 2105 previously worked with me on MRCG/HRB/NCRC grant Oct 2011-Sept 2013
 

Teaching

   

Enhancement of Teaching

I was involved in the development of animation videos and their translation into nine languages. The American Academy of Pediatrics requested to use one of these in their teaching programme.
   

Innovation & Leadership

SA Lynch. What¿s in a genome? Mind the gap-Transitional care Pfizer Herbert Hotel 24 April 2015 SA Lynch Beware the Genome 12th June 2015 Margaret Sinnott Memorial Lecture Catherine McAuley Centre SA Lynch Beware the Genome November 27th 2015 British Paediatric and Endocrine Society Cutlers Hall Sheffield UK

Collaborators

Internal Collaborators

Dr Jillian Casey Post-Doc working with me on several grant projects including MRCG/HRB/TSCH grant, HRB KEDS grant, UCD Seed Funding

Dr Sean Ennis AcORD

Dr Paula Byrne- I contribute to the rare disease module