Dr. Sally Ann Lynch

Clinical Senior Lecturer, Paediatrics

lynchs17@tcd.ie

Publications and Further Research Outputs

Peer-Reviewed Publications

Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh, SallyAnn Lynch, Sean Ennis, A novel locus for episodic ataxia - UBR4 the likely candidate, European Journal of Human Genetics , 22, (4), 2014, p505 - 510Journal Article, 2014
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, Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS., Journal of Inherited metabolic disease, 38, (6), 2015, p1085 - 1092Journal Article, 2015, DOI
O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F, Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations., Irish Journal of medical science, 185, (1), 2016, p241 - 248Journal Article, 2016, URL
Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S, Identification of a mutation in LARS as a novel cause of infantile hepatopathy., Molecular genetics and metabolism, 106, (3), 2012, p351-8Journal Article, 2012, DOI
Gilhooley, E., Gormally, S., Irvine, A., Lynch, S.A., Collins, S., FOXN1 Duplication and Congenital Hypertrichosis, Pediatric Dermatology, 34, (2), 2017, pe77-e79Journal Article, 2017
McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM, Novel COL4A2 Variant in a Large Pedigree: Consequences and Dilemmas., Clinical Genetics, 92, (4), 2017, p447-448Journal Article, 2017
Casey, J.P., Goggin, P., McDaid, J., White, M., Ennis, S., Betts, D.R., Lucas, J.S., Elnazir, B., Lynch, S.A., 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, 16, (1), 2015Journal Article, 2015, DOI
Al Shehhi, M. and Forman, E.B. and Fitzgerald, J.E. and McInerney, V. and Krawczyk, J. and Shen, S. and Betts, D.R. and Ardle, L.M. and Gorman, K.M. and King, M.D. and Green, A. and Gallagher, L. and Lynch, S.A., NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families, European Journal of Medical Genetics, 62, (3), 2019, p204-209Journal Article, 2019, DOI , URL , TARA - Full Text
Lynch, S.A., Crushell, E., Lambert, D.M., Byrne, N., Gorman, K., King, M.D., Green, A., O'Sullivan, S., Browne, F., Hughes, J., Knerr, I., Monavari, A.A., Cotter, M., McConnell, V.P.M., Kerr, B., Jones, S.A., Keenan, C., Murphy, N., Cody, D., Ennis, S., Turner, J., Irvine, A.D., Casey, J., Catalogue of inherited disorders found among the Irish Traveller population, Journal of Medical Genetics, 55, (4), 2018, p233-239Journal Article, 2018
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA., Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia., American journal of human genetics, 104, (5), 2019, 948-956Journal Article, 2019, DOI
P. N. Kirke, J. L. Mills, A. S. Whitehead, A. Molloy and J. M. Scott, Methylenetetrahydrofolate reductase mutation and neural tube defects, Lancet, 348, (9033), 1996, p1037-8Journal Article, 1996, URL
Ding, Y., Marcó de la Cruz, B., Xia, Y., Liu, M., Lu, Y., McInerney, V., Krawczyk, J., Lynch, S.A., Howard, L., O'Brien, T., Gallagher, L., Shen, S., Derivation of familial iPSC lines from three ASD patients carrying NRXN1"^+/" and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B), Stem Cell Research, 41, 2019Journal Article, 2019
Ding, Y. and O'Brien, A. and MarcÃ³ de la Cruz, B. and Yang, M. and Lu, Y. and Qian, X. and Yang, G. and McInerney, V. and Krawczyk, J. and Lynch, S.A. and Howard, L. and Allen, N.M. and O'Brien, T. and Gallagher, L. and Shen, S., Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1Î± gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B), Stem Cell Research, 53, (102254), 2021Journal Article, 2021, DOI , URL , TARA - Full Text
Ding, Y. and O'Brien, A. and de la Cruz, B.M. and Yang, M. and Fitzgerald, J. and Yang, G. and Li, W. and McInerney, V. and Krawczyk, J. and Lynch, S.A. and Howard, L. and Allen, N.M. and O'Brien, T. and Gallagher, L. and Shen, S., Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1Î± deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B), Stem Cell Research, 52, (102222), 2021Journal Article, 2021, DOI , URL , TARA - Full Text
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, Towards the identification of a genetic basis for Landau-Kleffner syndrome., Epilepsia, 2014Journal Article, 2014
Lynch NE, Lynch SA, McMenamin J, Webb D, Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay., Archives of disease in childhood, 2009Journal Article, 2009
Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M. Lambert, Sally Ann Lynch, A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland, Orphanet Journal of Rare Diseases, 15, (1), 2020Journal Article, 2020
Colleran GC, Hayes R, Kearns G, Kavanagh P, Moylett E, Lynch SA, 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, 2014Journal Article, 2014
Butler GH, Boyle M, Lynch SA, Ryan S, McDermott M, Capra M., One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome., Journal of pediatric hematology/oncology, 38, (6), 2016, pe191-2Journal Article, 2016, DOI
Gadancheva VG, Casey JP, Russell JD, McDaid J, Betts DR, Lynch SA., Vocal cord paralysis in association with 9q34 duplication., Clinical dysmorphology, 23, (3), 2014, p105-108Journal Article, 2014, DOI
O'Riordan AM, McGrath N, Sharif F, Murphy NP, Franklin O, Lynch SA, O'Grady MJ, Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance., European journal of pediatrics, 2016Journal Article, 2016
Gregor, A. and Meerbrei, T. and Gerstner, T. and Toutain, A. and Lynch, S.A. and Stals, K. and Maxton, C. and Lemke, J.R. and Bernat, J.A. and Bombei, H.M. and Foulds, N. and Hunt, D. and Kuechler, A. and Beygo, J. and StÃ¶be, P. and Bouman, A. and Palomares-Bralo, M. and Santos-Simarro, F. and Garcia-Minaur, S. and Pacio-Miguez, M. and Popp, B. and Vasileiou, G. and Hebebrand, M. and Reis, A. and Schuhmann, S. and Krumbiegel, M. and Brown, N.J. and Sparber, P. and Melikyan, L. and Bessonova, L. and Cherevatova, T. and Sharkov, A. and Shcherbakova, N. and Dabir, T. and Kini, U. and Schwaibold, E.M.C. and Haack, T.B. and Bertoli, M. and Hoffjan, S. and Falb, R. and Shinawi, M. and Sticht, H. and Zweier, C., De novo missense variants in FBXO11 alter its protein expression and subcellular localization, Human Molecular Genetics, 31, (3), 2022, p440-454Journal Article, 2022, DOI , URL
Gofin, Y. and Wang, T. and Gillentine, M.A. and Scott, T.M. and Berry, A.M. and Azamian, M.S. and Genetti, C. and Agrawal, P.B. and Picker, J. and Wojcik, M.H. and Delgado, M.R. and Lynch, S.A. and Scherer, S.W. and Howe, J.L. and Bacino, C.A. and DiTroia, S. and VanNoy, G.E. and O'Donnell-Luria, A. and Lalani, S.R. and Graf, W.D. and Rosenfeld, J.A. and Eichler, E.E. and Earl, R.K. and Scott, D.A., Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency, Human Mutation, 2022Journal Article, 2022, DOI , URL
Walsh, N. and Malone, L. and Lynch, S.A., Duplication of referral, a tsunami of paper: how much does it cost the Irish health services?, Irish Journal of Medical Science, 2022Journal Article, 2022, DOI , URL
Sasaki, E. and Phelan, E. and O'Regan, M. and Kassim, A.H. and Miletin, J. and McMahon, C. and O'Sullivan, M.J. and Baptista, J. and Lynch, S.A., HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckelâ"Gruber in a Romani family, Clinical Genetics, 101, (1), 2022, p142-143Journal Article, 2022, DOI , URL
Avazzadeh, S. and Quinlan, L.R. and Reilly, J. and McDonagh, K. and Jalali, A. and Wang, Y. and McInerney, V. and Krawczyk, J. and Ding, Y. and Fitzgerald, J. and Oâ Sullivan, M. and Forman, E.B. and Lynch, S.A. and Ennis, S. and Feerick, N. and Reilly, R. and Li, W. and Shen, X. and Yang, G. and Lu, Y. and Peeters, H. and Dockery, P. and Oâ Brien, T. and Shen, S. and Gallagher, L., NRXN1Î±+/- is associated with increased excitability in ASD iPSC-derived neurons, BMC Neuroscience, 22, (1), 2021Journal Article, 2021, DOI , URL
Martin, H.C. and Gardner, E.J. and Samocha, K.E. and Kaplanis, J. and Akawi, N. and Sifrim, A. and Eberhardt, R.Y. and Tavares, A.L.T. and Neville, M.D.C. and Niemi, M.E.K. and Gallone, G. and McRae, J. and Borras, S. and Clark, C. and Dean, J. and Miedzybrodzka, Z. and Ross, A. and Tennant, S. and Dabir, T. and Donnelly, D. and Humphreys, M. and Magee, A. and McConnell, V. and McKee, S. and McNerlan, S. and Morrison, P.J. and Rea, G. and Stewart, F. and Cole, T. and Cooper, N. and Cooper-Charles, L. and Cox, H. and Islam, L. and Jarvis, J. and Keelagher, R. and Lim, D. and McMullan, D. and Morton, J. and Naik, S. and Oâ Driscoll, M. and Ong, K.-R. and Osio, D. and Ragge, N. and Turton, S. and Vogt, J. and Williams, D. and Bodek, S. and Donaldson, A. and Hills, A. and Low, K. and Newbury-Ecob, R. and Norman, A.M. and Roberts, E. and Scurr, I. and Smithson, S. and Tooley, M. and Abbs, S. and Armstrong, R. and Dunn, C. and Holden, S. and Park, S.-M. and Paterson, J. and Raymond, L. and Reid, E. and Sandford, R. and Simonic, I. and Tischkowitz, M. and Woods, G. and Bradley, L. and Comerford, J. and Green, A. and Lynch, S. and McQuaid, S. and Mullaney, B. and Berg, J. and Goudie, D. and Mavrak, E. and McLean, J. and McWilliam, C. and Reavey, E. and Azam, T. and Cleary, E. and Jackson, A. and Lam, W. and Lampe, A. and Moore, D. and Porteous, M. and Baple, E. and Baptista, J. and Brewer, C. and Castle, B. and Kivuva, E. and Owens, M. and Rankin, J. and Shaw-Smith, C. and Turner, C. and Turnpenny, P. and Tysoe, C. and Bradley, T. and Davidson, R. and Gardiner, C. and Joss, S. and Kinning, E. and Longman, C. and McGowan, R. and Murday, V. and Pilz, D. and Tobias, E. and Whiteford, M. and Williams, N. and Barnicoat, A. and Clement, E. and Faravelli, F. and Hurst, J. and Jenkins, L. and Jones, W. and Kumar, V.K.A. and Lees, M. and Loughlin, S. and Male, A. and Morrogh, D. and Rosser, E. and Scott, R. and Wilson, L. and Beleza, A. and Deshpande, C. and Flinter, F. and Holder, M. and Irving, M. and Izatt, L. and Josifova, D. and Mohammed, S. and Molenda, A. and Robert, L. and Roworth, W. and Ruddy, D. and Ryten, M. and Yau, S. and Bennett, C. and Blyth, M. and Campbell, J. and Coates, A. and Dobbie, A. and Hewitt, S. and Hobson, E. and Jackson, E. and Jewell, R. and Kraus, A. and Prescott, K. and Sheridan, E. and Thomson, J. and Bradshaw, K. and Dixit, A. and Eason, J. and Haines, R. and Harrison, R. and Mutch, S. and Sarkar, A. and Searle, C. and Shannon, N. and Sharif, A. and Suri, M. and Vasudevan, P. and Canham, N. and Ellis, I. and Greenhalgh, L. and Howard, E. and Stinton, V. and Swale, A. and Weber, A. and Banka, S. and Breen, C. and Briggs, T. and Burkitt-Wright, E. and Chandler, K. and Clayton-Smith, J. and Donnai, D. and Douzgou, S. and Gaunt, L. and Jones, E. and Kerr, B. and Langley, C. and Metcalfe, K. and Smith, A. and Wright, R. and Bourn, D. and Burn, J. and Fisher, R. and Hellens, S. and Henderson, A. and Montgomery, T. and Splitt, M. and Straub, V. and Wright, M. and Zwolinski, S. and Allen, Z. and Bernhard, B. and Brady, A. and Brooks, C. and Busby, L. and Clowes, V. and Ghali, N. and Holder, S. and Ibitoye, R. and Wakeling, E. and Blair, E. and Carmichael, J. and Cilliers, D. and Clasper, S. and Gibbons, R. and Kini, U. and Lester, T. and Nemeth, A. and Poulton, J. and Price, S. and Shears, D. and Stewart, H. and Wilkie, A. and Albaba, S. and Baker, D. and Balasubramanian, M. and Johnson, D. and Parker, M. and Quarrell, O. and Stewart, A. and Willoughby, J, The contribution of X-linked coding variation to severe developmental disorders, Nature Communications, 12, (1), 2021Journal Article, 2021, DOI , URL
Schirwani, S. and Albaba, S. and Carere, D.A. and Guillen Sacoto, M.J. and Milan Zamora, F. and Si, Y. and Rabin, R. and Pappas, J. and Renaud, D.L. and Hauser, N. and Reid, E. and Blanchet, P. and Foulds, N. and Dixit, A. and Fisher, R. and Armstrong, R. and Isidor, B. and Cogne, B. and Schrier Vergano, S. and Demirdas, S. and Dykzeul, N. and Cohen, J.S. and Grand, K. and Morel, D. and Slavotinek, A. and Albassam, H.F. and Naik, S. and Dean, J. and Ragge, N. and Cinzia, C. and Tedesco, M.G. and Harrison, R.E. and Bouman, A. and Palen, E. and Challman, T.D. and Willemsen, M.H. and Vogt, J. and Cunniff, C. and Bergstrom, K. and Walia, J.S. and Bruel, A.-L. and Kini, U. and Alkuraya, F.S. and Slegesky, V. and Meeks, N. and Girotto, P. and Johnson, D. and Newbury-Ecob, R. and Ockeloen, C.W. and Prontera, P. and Lynch, S.A. and Li, D. and Graham, J.M., Jr. and Balasubramanian, M. and DDD Study, Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3, American Journal of Medical Genetics, Part A, 185, (11), 2021, p3446-3458Journal Article, 2021, DOI , URL
Weerts, M.J.A. and Lanko, K. and GuzmÃ¡n-Vega, F.J. and Jackson, A. and Ramakrishnan, R. and Cardona-LondoÃ±o, K.J. and PeÃ±a-Guerra, K.A. and van Bever, Y. and van Paassen, B.W. and Kievit, A. and van Slegtenhorst, M. and Allen, N.M. and Kehoe, C.M. and Robinson, H.K. and Pang, L. and Banu, S.H. and Zaman, M. and Efthymiou, S. and Houlden, H. and JÃ€rvelÃ€, I. and Lauronen, L. and MÃ€Ã€ttÃ€, T. and Schrauwen, I. and Leal, S.M. and Ruivenkamp, C.A.L. and Barge-Schaapveld, D.Q.C.M. and Peeters-Scholte, C.M.P.C.D. and Galehdari, H. and Mazaheri, N. and Sisodiya, S.M. and Harrison, V. and Sun, A. and Thies, J. and Pedroza, L.A. and Lara-Taranchenko, Y. and Chinn, I.K. and Lupski, J.R. and Garza-Flores, A. and McGlothlin, J. and Yang, L. and Huang, S. and Wang, X. and Jewett, T. and Rosso, G. and Lin, X. and Mohammed, S. and Merritt, J.L., II and Mirzaa, G.M. and Timms, A.E. and Scheck, J. and Elting, M.W. and Polstra, A.M. and Schenck, L. and Ruzhnikov, M.R.Z. and Vetro, A. and Montomoli, M. and Guerrini, R. and Koboldt, D.C. and Mosher, T.M. and Pastore, M.T. and McBride, K.L. and Peng, J. and Pan, Z. and Willemsen, M. and Koning, S. and Turnpenny, P.D. and de Vries, B.B.A. and Gilissen, C. and Pfundt, R. and Lees, M. and Braddock, S.R. and Klemp, K.C. and Vansenne, F. and van Gijn, M.E. and Quindipan, C. and Deardorff, M.A. and Hamm, J.A. and Putnam, A.M. and Baud, R. and Walsh, L. and Lynch, S.A. and Baptista, J. and Person, R.E. and Monaghan, K.G. and Crunk, A. and Keller-Ramey, J. and Reich, A. and Elloumi, H.Z. and Alders, M. and Kerkhof, J. and McConkey, H. and Haghshenas, S. and Maroofian, R. and Sadikovic, B. and Banka, S. and Arold, S.T. and Barakat, T.S. and Genomics England Research Consortium, Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome, Genetics in Medicine, 23, (11), 2021, p2122-2137Journal Article, 2021, DOI , URL
Gunne, E. and Lynch, S.A. and McGarvey, C. and Hamilton, K. and Lambert, D.M., Fatal fetal abnormality Irish live-born survivalâ"an observational study, Journal of Community Genetics, 12, (4), 2021, p643-651Journal Article, 2021, DOI , URL
Tobias, E.S. and Avram, E. and Calapod, P. and Cordier, C. and den Dunnen, J.T. and Ding, C. and Dolzan, V. and Houge, S.D. and Lynch, S.A. and Oâ Byrne, J. and Patsalis, P. and Prokopenko, I. and Soares, C.A. and Tobias, A.P. and Newman, W.G., The Role of the European Society of Human Genetics in Delivering Genomic Education, Frontiers in Genetics, 12, (693952), 2021Journal Article, 2021, DOI , URL
Poole, R.L. and Curry, P.D.K. and Marcinkute, R. and Brewer, C. and Coman, D. and Hobson, E. and Johnson, D. and Lynch, S.A. and Saggar, A. and Searle, C. and Scurr, I. and Turnpenny, P.D. and Vasudevan, P. and Tatton-Brown, K., Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395GÂ > A p.(Glu1799Lys) missense variant, American Journal of Medical Genetics, Part A, 185, (8), 2021, p2445-2454Journal Article, 2021, DOI , URL
Parenti, I. and Mallozzi, M.B. and HÃŒning, I. and Gervasini, C. and Kuechler, A. and Agolini, E. and Albrecht, B. and Baquero-Montoya, C. and Bohring, A. and Bramswig, N.C. and Busche, A. and Dalski, A. and Guo, Y. and Hanker, B. and Hellenbroich, Y. and Horn, D. and Innes, A.M. and Leoni, C. and Li, Y.R. and Lynch, S.A. and Mariani, M. and Medne, L. and Mikat, B. and Milani, D. and Onesimo, R. and Ortiz-Gonzalez, X. and Prott, E.C. and Reutter, H. and Rossier, E. and Selicorni, A. and Wieacker, P. and Wilkens, A. and Wieczorek, D. and Zackai, E.H. and Zampino, G. and Zirn, B. and Hakonarson, H. and Deardorff, M.A. and Gillessen-Kaesbach, G. and Kaiser, F.J., ANKRD11 variants: KBG syndrome and beyond, Clinical Genetics, 100, (2), 2021, p187-200Journal Article, 2021, DOI , URL
Wright, C.F. and Quaife, N.M. and Ramos-HernÃ¡ndez, L. and Danecek, P. and Ferla, M.P. and Samocha, K.E. and Kaplanis, J. and Gardner, E.J. and Eberhardt, R.Y. and Chao, K.R. and Karczewski, K.J. and Morales, J. and Gallone, G. and Balasubramanian, M. and Banka, S. and Gompertz, L. and Kerr, B. and Kirby, A. and Lynch, S.A. and Morton, J.E.V. and Pinz, H. and Sansbury, F.H. and Stewart, H. and Zuccarelli, B.D. and Cook, S.A. and Taylor, J.C. and Juusola, J. and Retterer, K. and Firth, H.V. and Hurles, M.E. and Lara-Pezzi, E. and Barton, P.J.R. and Whiffin, N. and Genomics England Research Consortium, Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms, American Journal of Human Genetics, 108, (6), 2021, p1083-1094Journal Article, 2021, DOI , URL
Benson, K.A. and Murray, S.L. and Senum, S.R. and Elhassan, E. and Conlon, E.T. and Kennedy, C. and Conlon, S. and Gilbert, E. and Connaughton, D. and Oâ Hara, P. and Khamis, S. and Cormican, S. and Brody, L.C. and Molloy, A.M. and Lynch, S.A. and Casserly, L. and Griffin, M.D. and Carton, R. and Yachnin, K. and Harris, P.C. and Cavalleri, G.L. and Conlon, P., The genetic landscape of polycystic kidney disease in Ireland, European Journal of Human Genetics, 29, (5), 2021, p827-838Journal Article, 2021, DOI , URL
Polla, D.L. and Bhoj, E.J. and Verheij, J.B.G.M. and Wassink-Ruiter, J.S.K. and Reis, A. and Deshpande, C. and Gregor, A. and Hill-Karfe, K. and Silfhout, A.T.V.-V. and Pfundt, R. and Bongers, E.M.H.F. and Hakonarson, H. and Berland, S. and Gradek, G. and Banka, S. and Chandler, K. and Gompertz, L. and Huffels, S.C. and Stumpel, C.T.R.M. and Wennekes, R. and Stegmann, A.P.A. and Reardon, W. and Leenders, E.K.S.M. and de Vries, B.B.A. and Li, D. and Zackai, E. and Ragge, N. and Lynch, S.A. and Cuddapah, S. and van Bokhoven, H. and Zweier, C. and de Brouwer, A.P.M., De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females, Genetics in Medicine, 23, (4), 2021, p645-652Journal Article, 2021, DOI , URL
Bradley, L. and Lynch, S.A., Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?, Journal of Community Genetics, 12, (1), 2021, p121-127Journal Article, 2021, DOI , URL
D'Angelo, C.S. and Hermes, A. and McMaster, C.R. and Prichep, E. and Richer, E. and van der Westhuizen, F.H. and Repetto, G.M. and Mengchun, G. and Malherbe, H. and Reichardt, J.K.V. and Arbour, L. and Hudson, M. and du Plessis, K. and Haendel, M. and Wilcox, P. and Lynch, S.A. and Rind, S. and Easteal, S. and Estivill, X. and Thomas, Y. and Baynam, G., Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations, Frontiers in Pediatrics, 8, (579924), 2020Journal Article, 2020, DOI , URL
Barish, S. and Barakat, T.S. and Michel, B.C. and Mashtalir, N. and Phillips, J.B. and Valencia, A.M. and Ugur, B. and Wegner, J. and Scott, T.M. and Bostwick, B. and Murdock, D.R. and Dai, H. and Perenthaler, E. and Nikoncuk, A. and van Slegtenhorst, M. and Brooks, A.S. and Keren, B. and Nava, C. and Mignot, C. and Douglas, J. and Rodan, L. and Nowak, C. and Ellard, S. and Stals, K. and Lynch, S.A. and Faoucher, M. and Lesca, G. and Edery, P. and Engleman, K.L. and Zhou, D. and Thiffault, I. and Herriges, J. and Gass, J. and Louie, R.J. and Stolerman, E. and Washington, C. and Vetrini, F. and Otsubo, A. and Pratt, V.M. and Conboy, E. and Treat, K. and Shannon, N. and Camacho, J. and Wakeling, E. and Yuan, B. and Chen, C.-A. and Rosenfeld, J.A. and Westerfield, M. and Wangler, M. and Yamamoto, S. and Kadoch, C. and Scott, D.A. and Bellen, H.J. and Undiagnosed Diseases Network, BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms, American Journal of Human Genetics, 107, (6), 2020, p1096-1112Journal Article, 2020, DOI , URL
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Henderson, R.A. and Williamson, K. and Cumming, S. and Clarke, M.P. and Lynch, S.A. and Hanson, I.M. and FitzPatrick, D.R. and Sisodiya, S. and van Heyningen, V., Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia, European Journal of Human Genetics, 15, (8), 2007, p898-901Journal Article, 2007, DOI , URL
Rice, G. and Patrick, T. and Parmar, R. and Taylor, C.F. and Aeby, A. and Aicardi, J. and Artuch, R. and Montalto, S.A. and Bacino, C.A. and Barroso, B. and Baxter, P. and Benko, W.S. and Bergmann, C. and Bertini, E. and Biancheri, R. and Blair, E.M. and Blau, N. and Bonthron, D.T. and Briggs, T. and Brueton, L.A. and Brunner, H.G. and Burke, C.J. and Carr, I.M. and Carvalho, D.R. and Chandler, K.E. and Christen, H.-J. and Corry, P.C. and Cowan, F.M. and Cox, H. and D'Arrigo, S. and Dean, J. and De Laet, C. and De Praeter, C. and DÃ©ry, C. and Ferrie, C.D. and Flintoff, K. and Frints, S.G.M. and Garcia-Cazorla, A. and Gener, B. and Goizet, C. and GoutiÃšres, F. and Green, A.J. and GuÃ«t, A. and Hamel, B.C.J. and Hayward, B.E. and Heiberg, A. and Hennekam, R.C. and Husson, M. and Jackson, A.P. and Jayatunga, R. and Jiang, Y.-H. and Kant, S.G. and Kao, A. and King, M.D. and Kingston, H.M. and Klepper, J. and Van Der Knaap, M.S. and Kornberg, A.J. and Kotzot, D. and Kratzer, W. and Lacombe, D. and Lagae, L. and Landrieu, P.G. and Lanzi, G. and Leitch, A. and Lim, M.J. and Livingston, J.H. and Lourenco, C.M. and Lyall, E.G.H. and Lynch, S.A. and Lyons, M.J. and Marom, D. and McClure, J.P. and McWilliam, R. and Melancon, S.B. and Mewasingh, L.D. and Moutard, M.-L. and Nischal, K.K. and Ã~stergaard, J.R. and Prendiville, J. and Rasmussen, M. and Rogers, R.C. and Roland, D. and Rosser, E.M. and Rostasy, K. and Roubertie, A. and Sanchis, A. and Schiffmann, R. and Scholl-BÃŒrgi, S. and Seal, S. and Shalev, S.A. and Corcoles, C.S. and Sinha, G.P. and Soler, D. and Spiegel, R. and Stephenson, J.B.P. and Tacke, U. and Tiong, Y.T. and Till, M. and Tolmie, J.L. and Tomlin, P. and Vagnarelli, F. and Valente, E.M. and Van Coster, R.N.A. and Van Der Aa, N. and Vanderver, A. and Vles, J.S.H. and Voit, T. and Wassmer, E. and Weschke, B. and Whiteford, M.L. and Willemsen, M.A.A. and Zankl, A. and Zuberi, S.M. and Orcesi, S. and Fazzi, E. and Lebon, P. and Crow, Y.J., Clinical and molecular phenotype of Aicardi-GoutiÃšres syndrome, American Journal of Human Genetics, 81, (4), 2007, p713-725Journal Article, 2007, DOI , URL
Rice, G. and Patrick, T. and Parmar, R. and Taylor, C.F. and Aeby, A. and Aicardi, J. and Artuch, R. and Montalto, S.A. and Bacino, C.A. and Barroso, B. and Baxter, P. and Benko, W.S. and Bergmann, C. and Bertini, E. and Biancheri, R. and Blair, E.M. and Blau, N. and Bonthron, D.T. and Briggs, T. and Brueton, L.A. and Brunner, H.G. and Burke, C.J. and Carr, I.M. and Carvalho, D.R. and Chandler, K.E. and Christen, H.-J. and Corry, P.C. and Cowan, F.M. and Cox, H. and D'Arrigo, S. and Dean, J. and De Laet, C. and De Praeter, C. and DÃ©ry, C. and Ferrie, C.D. and Flintoff, K. and Frints, S.G.M. and Garcia-Cazorla, A. and Gener, B. and Goizet, C. and GoutiÃšres, F. and Green, A.J. and GuÃ«t, A. and Hamel, B.C.J. and Hayward, B.E. and Heiberg, A. and Hennekam, R.C. and Husson, M. and Jackson, A.P. and Jayatunga, R. and Jiang, Y.-H. and Kant, S.G. and Kao, A. and King, M.D. and Kingston, H.M. and Klepper, J. and Van Der Knaap, M.S. and Kornberg, A.J. and Kotzot, D. and Kratzer, W. and Lacombe, D. and Lagae, L. and Landrieu, P.G. and Lanzi, G. and Leitch, A. and Lim, M.J. and Livingston, J.H. and Lourenco, C.M. and Lyall, E.G.H. and Lynch, S.A. and Lyons, M.J. and Marom, D. and McClure, J.P. and McWilliam, R. and Melancon, S.B. and Mewasingh, L.D. and Moutard, M.-L. and Nischal, K.K. and Ã~stergaard, J.R. and Prendiville, J. and Rasmussen, M. and Rogers, R.C. and Roland, D. and Rosser, E.M. and Rostasy, K. and Roubertie, A. and Sanchis, A. and Schiffmann, R. and Scholl-BÃŒrgi, S. and Seal, S. and Shalev, S.A. and Corcoles, C.S. and Sinha, G.P. and Soler, D. and Spiegel, R. and Stephenson, J.B.P. and Tacke, U. and Tiong, Y.T. and Till, M. and Tolmie, J.L. and Tomlin, P. and Vagnarelli, F. and Valente, E.M. and Van Coster, R.N.A. and Van Der Aa, N. and Vanderver, A. and Vles, J.S.H. and Voit, T. and Wassmer, E. and Weschke, B. and Whiteford, M.L. and Willemsen, M.A.A. and Zankl, A. and Zuberi, S.M. and Orcesi, S. and Fazzi, E. and Lebon, P. and Crow, Y.J., Clinical and molecular phenotype of Aicardi-GoutiÃšres syndrome, American Journal of Human Genetics, 81, (4), 2007, p713-725Journal Article, 2007, DOI , URL
Kyndt, F. and Gueffet, J.-P. and Probst, V. and Jaafar, P. and Legendre, A. and Le Bouffant, F. and Toquet, C. and Roy, E. and McGregor, L. and Lynch, S.A. and Newbury-Ecob, R. and Tran, V. and Young, I. and Trochu, J.-N. and Le Marec, H. and Schott, J.-J., Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy, Circulation, 115, (1), 2007, p40-49Journal Article, 2007, DOI , URL
Kyndt, F. and Gueffet, J.-P. and Probst, V. and Jaafar, P. and Legendre, A. and Le Bouffant, F. and Toquet, C. and Roy, E. and McGregor, L. and Lynch, S.A. and Newbury-Ecob, R. and Tran, V. and Young, I. and Trochu, J.-N. and Le Marec, H. and Schott, J.-J., Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy, Circulation, 115, (1), 2007, p40-49Journal Article, 2007, DOI , URL
Crawford, J. and Lower, K.M. and Hennekam, R.C.M. and Van Esch, H. and MÃ©garbanÃ©, A. and Lynch, S.A. and Turner, G. and GÃ©cz, J., Mutation screening in BÃ¶rjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient, Journal of Medical Genetics, 43, (3), 2006, p238-243Journal Article, 2006, DOI , URL
Crawford, J. and Lower, K.M. and Hennekam, R.C.M. and Van Esch, H. and MÃ©garbanÃ©, A. and Lynch, S.A. and Turner, G. and GÃ©cz, J., Mutation screening in BÃ¶rjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient, Journal of Medical Genetics, 43, (3), 2006, p238-243Journal Article, 2006, DOI , URL
Lynch, S.A., Non-multifactorial neural tube defects, American Journal of Medical Genetics - Seminars in Medical Genetics, 135 C, (1), 2005, p69-76Journal Article, 2005, DOI , URL
Lynch, S.A., Non-multifactorial neural tube defects, American Journal of Medical Genetics - Seminars in Medical Genetics, 135 C, (1), 2005, p69-76Journal Article, 2005, DOI , URL
Clarke, A. and Richards, M. and Kerzin-Storrar, L. and Halliday, J. and Young, M.A. and Simpson, S.A. and Featherstone, K. and Forrest, K. and Lucassen, A. and Morrison, P.J. and Quarrell, O.W.J. and Stewart, H. and Ahmad, A. and Brennan, P. and Lynch, S.A. and Wiles, V. and Zukowska-Wilcocks, A., Genetic professionals' reports of nondisclosure of genetic risk information within families, European Journal of Human Genetics, 13, (5), 2005, p556-562Journal Article, 2005, DOI , URL
Douglas, J. and Coleman, K. and Tatton-Brown, K. and Hughes, H.E. and Temple, I.K. and Cole, T.R.P. and Rahman, N. and Berg, J. and Cole, T. and Davies, S. and David Fitzpatrick, R.D. and Flinter, F. and Fryer, A. and Homfray, T. and Kerr, B. and Lynch, S.A. and Magee, A. and Pilz, D. and Raymond, L. and Reid, E. and Tolmie, J., Evaluation of NSD2 and NSD3 in overgrowth syndromes, European Journal of Human Genetics, 13, (2), 2005, p150-153Journal Article, 2005, DOI , URL
Bond, J. and Flintoff, K. and Higgins, J. and Scott, S. and Bennet, C. and Parsons, J. and Mannon, J. and Jafri, H. and Rashid, Y. and Barrow, M. and Trembath, R. and Woodruff, G. and Rossa, E. and Lynch, S. and Sheilds, J. and Newbury-Ecob, R. and Falconer, A. and Holland, P. and Cockburn, D. and Karbani, G. and Malik, S. and Ahmed, M. and Roberts, E. and Taylor, G. and Woods, C.G., The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy., Journal of medical genetics, 42, (2), 2005Journal Article, 2005, DOI , URL
Gissen, P. and Johnson, C.A. and Morgan, N.V. and Stapelbroek, J.M. and Forshew, T. and Cooper, W.N. and McKiernan, P.J. and Klomp, L.W.J. and Morris, A.A.M. and Wraith, J.E. and McClean, P. and Lynch, S.A. and Thompson, R.J. and Lo, B. and Quarrell, O.W. and Di Rocco, M. and Trembath, R.C. and Mandel, H. and Wali, S. and Karet, F.E. and Knisely, A.S. and Houwen, R.H.J. and Kelly, D.A. and Maher, E.R., Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, Nature Genetics, 36, (4), 2004, p400-404Journal Article, 2004, DOI , URL
McDonnell, S. and Lynch, S.A., Who supports the support workers? Cross-sectional survey of support workers' experience and views, European Journal of Human Genetics, 12, (3), 2004, p251-254Journal Article, 2004, DOI , URL
Fantes, J. and Ragge, N.K. and Lynch, S.-A. and McGill, N.I. and Collin, J.R.O. and Howard-Peebles, P.N. and Hayward, C. and Vivian, A.J. and Williamson, K. and Van Heyningen, V. and FitzPatrick, D.R., Mutations in SOX2 cause anophthalmia, Nature Genetics, 33, (4), 2003, p461-463Journal Article, 2003, DOI , URL
Lynch, S.A. and Whatley, S.D. and Ramesh, V. and Sinha, S. and Ravine, D., Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2, Archives of Disease in Childhood: Fetal and Neonatal Edition, 88, (3), 2003, pF250-F252Journal Article, 2003, DOI , URL
Lampe, A.K. and Seymour, G. and Thompson, P.W. and Toutain, A. and Lynch, S.A., Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma, Archives of Disease in Childhood, 87, (5), 2002, p444-445Journal Article, 2002, DOI , URL
Eastham, K.M. and McKiernan, P.J. and Milford, D.V. and Ramani, P. and Wyllie, J. and Van't Hoff, W. and Lynch, S.A. and Morris, A.A.M., ARC syndrome: An expanding range of phenotypes, Archives of Disease in Childhood, 85, (5), 2001, p415-420Journal Article, 2001, DOI , URL
Fairgrieve, S.D. and Jackson, M. and Jonas, P. and Walshaw, D. and White, K. and Montgomery, T.L. and Burn, J. and Lynch, S.A., Population based, prospective study of the care of women with epilepsy in pregnancy, British Medical Journal, 321, (7262), 2000, p674-675Journal Article, 2000, DOI , URL
Cheadle, J.P. and Gill, H. and Fleming, N. and Maynard, J. and Kerr, A. and Leonard, H. and Krawczak, M. and Cooper, D.N. and Lynch, S. and Thomas, N. and Hughes, H. and Hulten, M. and Ravine, D. and Sampson, J.R. and Clarke, A., Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location, Human Molecular Genetics, 9, (7), 2000, p1119-1129Journal Article, 2000, DOI , URL
Lynch, S.A. and Hall, K. and Precious, S. and Wilkie, A.O.M. and Hurst, J.A., Two further cases of Sener syndrome: Frontonasal dysplasia and dilated Virchow-Robin spaces, Journal of Medical Genetics, 37, (6), 2000, p466-470Journal Article, 2000, DOI , URL
Lynch, S.A. and Wang, Y. and Strachan, T. and Burn, J. and Lindsay, S., Autosomal dominant sacral agenesis: Currarino syndrome, Journal of Medical Genetics, 37, (8), 2000, p561-566Journal Article, 2000, DOI , URL
Muenke, M. and Hagan, D.M. and Ross, A.J. and Strachan, T. and Lynch, S.A. and Ruiz-Perez, V. and Wang, Y.M. and Scambler, P., Erratum: Mutation analysis and embryonic expression of the HLXB9 Currarino sundrome gene (American Journal of Human Genetics (2000) 66 (769)), American Journal of Human Genetics, 67, (3), 2000, p769Journal Article, 2000, DOI , URL
Hagan, D.M. and Ross, A.J. and Strachan, T. and Lynch, S.A. and Ruiz-Perez, V. and Wang, Y.M. and Scambler, P. and Custard, E. and Reardon, W. and Hassan, S. and Muenke, M. and Nixon, P. and Papapetrou, C. and Winter, R.M. and Edwards, Y. and Morrison, K. and Barrow, M. and Cordier-Alex, M.P. and Correia, P. and Galvin-Parton, P.A. and Gaskill, S. and Gaskin, K.J. and Garcia-Minaur, S. and Gereige, R. and Hayward, R. and Homfray, T. and McKeown, C. and Murday, V. and Plauchu, H. and Shannon, N. and Spitz, L. and Lindsay, S., Mutation analysis anti embryonic expression of the HLXB9 currarino syndrome gene, American Journal of Human Genetics, 66, (5), 2000, p1504-1515Journal Article, 2000, DOI , URL
Morrison, K. and Papapetrou, C. and Attwood, J. and Hol, F. and Lynch, S.A. and Sampath, A. and Hamel, B. and Burn, J. and Sowden, J. and Stott, D. and Mariman, E. and Edwards, Y.H., Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida, Human Molecular Genetics, 5, (5), 1996, p669-674Journal Article, 1996, DOI , URL
Lynch, S.A. and Bond, P.M. and Copp, A.J. and Kirwan, W.O. and Nour, S. and Balling, R. and Mariman, E. and Burn, J. and Strachan, T., A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36, Nature Genetics, 11, (1), 1995, p93-95Journal Article, 1995, DOI , URL
Lynch, S.A. and Ashcroft, K.A. and Zwolinski, S. and Clarke, C. and Burn, J., Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13, Journal of Medical Genetics, 32, (3), 1995, p227-230Journal Article, 1995, DOI , URL
Mone, F. and McAuliffe, F.M. and Lynch, S.A., A perinatal approach to genetic disorders in Irish Travellers: A review, European Journal of Obstetrics and Gynecology and Reproductive Biology, 228, 2018, p43-47Journal Article, 2018, DOI , URL
McVeigh, T.P. and Soye, J.A. and Gordon, E. and Lynch, S.A., Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly, American Journal of Medical Genetics, Part A, 176, (5), 2018, p1180-1183Journal Article, 2018, DOI , URL
Forman, E.B. and Gorman, K.M. and Conroy, J. and Arthur, N. and Grant, C. and Ennis, S. and Allen, N.M. and Lynch, S.A. and King, M.D., Cost of exome sequencing in epileptic encephalopathy: Is it worth it'?, Archives of Disease in Childhood, 103, (3), 2018, p304Journal Article, 2018, DOI , URL
Gorman, K.M. and Forman, E. and Conroy, J. and Allen, N.M. and Shahwan, A. and Lynch, S.A. and Ennis, S. and King, M.D., Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype, Epilepsia, 58, (7), 2017, p1301-1302Journal Article, 2017, DOI , URL
Casey, J.P. and Hirouchi, T. and Hisatsune, C. and Lynch, B. and Murphy, R. and Dunne, A.M. and Miyamoto, A. and Ennis, S. and van der Spek, N. and Oâ Hici, B. and Mikoshiba, K. and Lynch, S.A., A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns, Journal of Neurology, 264, (7), 2017, p1444-1453Journal Article, 2017, DOI , URL
O'Byrne, J.J. and Sweeney, M. and Donnelly, D.E. and Lambert, D.M. and Beattie, E.D. and Gervin, C.M. and Barton, D.E. and Lynch, S.A., Incidence of Fragile X syndrome in Ireland, American Journal of Medical Genetics, Part A, 173, (3), 2017, p678-683Journal Article, 2017, DOI , URL
Walsh, Ã". and Heffernan, C. and Ryan, S. and Butler, K. and Lynch, S.A., Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion, Clinical Dysmorphology, 26, (3), 2017, p181-184Journal Article, 2017, DOI , URL
O'Byrne, J.J. and Ryan, H. and Murray, D.J. and Regan, R. and Betts, D.R. and Murphy, N. and Casey, J.P. and Lynch, S.A., 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), 2017, p274-279Journal Article, 2017, DOI , URL
Casey, J. and Flood, K. and Ennis, S. and Doyle, E. and Farrell, M. and Lynch, S.A., Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing, Prenatal Diagnosis, 36, (11), 2016, p1020-1026Journal Article, 2016, DOI , URL
Coyle, D. and Kutasy, B. and Han Suyin, K. and Antao, B. and Lynch, S.A. and McDermott, M.B. and O'Connell, S.M. and Quinn, F., Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience, Journal of Pediatric Urology, 12, (5), 2016, p283.e1-283.e7Journal Article, 2016, DOI , URL
Hamilton, M.J. and Newbury-Ecob, R. and Holder-Espinasse, M. and Yau, S. and Lillis, S. and Hurst, J.A. and Clement, E. and Reardon, W. and Joss, S. and Hobson, E. and Blyth, M. and Al-Shehhi, M. and Lynch, S.A. and Suri, M., Rubinstein-Taybi syndrome type 2: Report of nine new cases that extend the phenotypic and genotypic spectrum, Clinical Dysmorphology, 25, (4), 2016, p135-145Journal Article, 2016, DOI , URL
Casey, J. and Jenkinson, A. and Magee, A. and Ennis, S. and Monavari, A. and Green, A. and Lynch, S.A. and Crushell, E. and Hughes, J., Beaulieu-Boycott-Innes syndrome: An intellectual disability syndrome with characteristic facies, Clinical Dysmorphology, 25, (4), 2016, p146-151Journal Article, 2016, DOI , URL
Oâ Shea, R. and Meany, M. and Carroll, C. and Cody, N. and Healy, D. and Green, A. and Lynch, S.A., 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, 25, (3), 2016, p422-431Journal Article, 2016, DOI , URL
Conroy, J. and Allen, N.M. and Gorman, K.M. and Shahwan, A. and Ennis, S. and Lynch, S.A. and King, M.D., NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy, Clinical Genetics, 89, (2), 2016, pE1-E3Journal Article, 2016, DOI , URL
Wilson, B.T. and Omer, M. and Hellens, S.W. and Zwolinski, S.A. and Yates, L.M. and Lynch, S.A., Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay, American Journal of Medical Genetics, Part A, 167, (8), 2015, p1916-1920Journal Article, 2015, DOI , URL
Allen, N.M. and Conroy, J. and Shahwan, A. and Ennis, S. and Lynch, B. and Lynch, S.A. and King, M.D., Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort, European Journal of Paediatric Neurology, 19, (4), 2015, p390-394Journal Article, 2015, DOI , URL
Seoighe, D.M. and Gadancheva, V. and Regan, R. and Mcdaid, J. and Brenner, C. and Ennis, S. and Betts, D.R. and Eadie, P.A. and Lynch, S.A., A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome, American Journal of Medical Genetics, Part A, 164, (11), 2014, p2958-2960Journal Article, 2014, DOI , URL
Allen, N.M. and Conroy, J. and Shahwan, A. and Ennis, S. and Lynch, B. and Lynch, S.A. and King, M.D., Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient, American Journal of Medical Genetics, Part A, 164, (7), 2014, p1863-1866Journal Article, 2014, DOI , URL
Migliore, C. and Athanasakis, E. and Dahoun, S. and Wonkam, A. and Lees, M. and Calabrese, O. and Connell, F. and Lynch, S.A. and Izzi, C. and Pompilii, E. and Thakur, S. and van Maarle, M. and Wilson, L.C. and Meroni, G., Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations, European Journal of Medical Genetics, 56, (8), 2013, p404-410Journal Article, 2013, DOI , URL
Aldahmesh, M.A. and Khan, A.O. and Mohamed, J.Y. and Levin, A.V. and Wuthisiri, W. and Lynch, S. and McCreery, K. and Alkuraya, F.S., No evidence for locus heterogeneity in knobloch syndrome, Journal of Medical Genetics, 50, (8), 2013, p565-566Journal Article, 2013, DOI , URL
Lynch, S.A. and Nguyen, L.S. and Ng, L.Y. and Waldron, M. and McDonald, D. and Gecz, J., Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay, European Journal of Medical Genetics, 55, (8-9), 2012, p476-479Journal Article, 2012, DOI , URL
O'Rourke, D.J. and Twomey, E. and Lynch, S.-A. and King, M.D., Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: A rare finding, Clinical Dysmorphology, 21, (2), 2012, p91-92Journal Article, 2012, DOI , URL
Vogt, J. and Morgan, N.V. and Rehal, P. and Faivre, L. and Brueton, L.A. and Becker, K. and Fryns, J.-P. and Holder, S. and Islam, L. and Kivuva, E. and Lynch, S.A. and Touraine, R. and Wilson, L.C. and MacDonald, F. and Maher, E.R., CHRNG genotype-phenotype correlations in the multiple pterygium syndromes, Journal of Medical Genetics, 49, (1), 2012, p21-26Journal Article, 2012, DOI , URL
Lynch, S.A., What price a diagnosis?, Developmental Medicine and Child Neurology, 53, (11), 2011, p971Journal Article, 2011, DOI , URL
FitzGerald, K. and Lynch, S.A. and McKiernan, E., Case report: Unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, European Archives of Paediatric Dentistry, 12, (4), 2011, p219-223Journal Article, 2011, DOI , URL
Baker, L.B. and Conroy, J. and Donoghue, V. and Mullarkey, M. and Shah, N. and Murphy, N. and Murphy, J. and Ennis, S. and Lynch, S.A., Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31-Xp22.12 deletion, Clinical Dysmorphology, 20, (1), 2011, p21-25Journal Article, 2011, DOI , URL
Wormald, R. and Viani, L. and Lynch, S.A. and Green, A.J., Sensorineural hearing loss in children, Irish Medical Journal, 103, (2), 2010Journal Article, 2010, URL
Shahdadpuri, R. and Lambert, D. and Lynch, S.A., Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay, Irish Medical Journal, 102, (5), 2009Journal Article, 2009, URL
Doudney, K. and Grinham, J. and Whittaker, J. and Lynch, S.A. and Thompson, D. and Moore, G.E. and Copp, A.J. and Greene, N.D.E. and Stanier, P., Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects, American Journal of Medical Genetics, Part A, 149, (7), 2009, p1585-1589Journal Article, 2009, DOI , URL
Foley, P. and Bunyan, D. and Stratton, J. and Dillon, M. and Lynch, S.A., Further case of rubinstein-taybi syndrome due to a deletion in EP300, American Journal of Medical Genetics, Part A, 149, (5), 2009, p997-1000Journal Article, 2009, DOI , URL
Zweier, C. and Sticht, H. and Bijlsma, E.K. and Clayton-Smith, J. and Boonen, S.E. and Fryer, A. and Greally, M.T. and Hoffmann, L. and den Hollander, N.S. and Jongmans, M. and Kant, S.G. and King, M.D. and Lynch, S.A. and McKee, S. and Midro, A.T. and Park, S.-M. and Ricotti, V. and Tarantino, E. and Wessels, M. and Peippo, M. and Rauch, A., Further delineation of Pitt-Hopkins syndrome: Phenotypic and genotypic description of 16 novel patients, Journal of Medical Genetics, 45, (11), 2008, p738-744Journal Article, 2008, DOI , URL
O'Shea, J. and Lynch, S.A. and Macken, S., A case of persistent pulmonary hypertension in a newborn with Costello syndrome, Clinical Dysmorphology, 17, (4), 2008, p287-288Journal Article, 2008, DOI , URL
Shahdadpuri, R. and Lynch, S.A. and Murchan, H. and McMahon, C.J., A novel constellation of cardiac findings for Kabuki syndrome: Hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage, Pediatric Cardiology, 29, (4), 2008, p820-822Journal Article, 2008, DOI , URL
McBrien, J. and Crolla, J.A. and Huang, S. and Kelleher, J. and Gleeson, J. and Lynch, S.A., Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion, American Journal of Medical Genetics, Part A, 146, (12), 2008, p1587-1592Journal Article, 2008, DOI , URL
Cody, N. and Green, A. and McDevitt, T. and Lynch, S.A., Cascade screening in BRCA1/2 mutation carriers, Irish Medical Journal, 101, (5), 2008Journal Article, 2008, URL
Murphy, A.-M. and Flanagan, O. and Dunne, K. and Lynch, S.-A., High prevalence of Cohen syndrome among Irish travellers, Clinical Dysmorphology, 16, (4), 2007, p257-259Journal Article, 2007, DOI , URL
Douglas, J. and Cilliers, D. and Coleman, K. and Tatton-Brown, K. and Barker, K. and Bernhard, B. and Burn, J. and Huson, S. and Josifova, D. and Lacombe, D. and Malik, M. and Mansour, S. and Reid, E. and Cormier-Daire, V. and Cole, T. and Addor, M. and Al Swaid, A. and Amiel, J. and Andries, S. and Archer, H. and Barnicoat, A. and Barrow, M. and Barwell, J. and Baujat, G. and Becker, K. and Berg, J. and Bernhard, B. and Bhat, M. and Bitner, M. and Blair, E. and Brady, A. and Brueton, L. and Cavani, S. and Cecconi and Chandler, K. and Christensen, C. and Clarke, A. and Clayton-Smith, J. and Cole, T. and Colleaux, L. and Colley, A. and Collins, A. and Cormier-Daire, V. and Danda, S. and Davies, S. and Day, R. and Magali, D.R. and Dennis, N. and Dobbie, A. and Edery, P. and Elmslie, F. and Faravelli, F. and Firth, H. and Fischetto, R. and Fitzpatrick, D. and Forzano, F. and Foulds, N. and Franklin, J. and Fryer, A. and Garcia, S. and Gardiner, C. and Garrett, C. and Gener, B. and Gibbons, R. and Gillerot, Y. and Gillessen-Kaesbach, G. and Goudie, D. and Grasso, M. and Henderson, A. and Hirst, J. and Hodgson, S. and Holder, S. and Homfrey, T. and Hughes, H. and Kerr, B. and Kumar, A. and Kumar, D. and Lam, W. and Le Merrer, M. and Leonard, N. and Liebelt, J. and Lunt, P. and Lynch, S. and Lyonnet, S. and Magee, A. and Malacarne, M. and Mansour, S. and McEntagart, M. and Majore, S. and McKee, S. and McKeown, C. and Meinecke, P. and Metcalfe, K. and Milani, D. and Mohammad, S. and Munnich, A. and Murray, A. and Nemeth, A. and Neri, G. and Odent, S. and Park, S. and Patton, M. and Penny, E. and Pilz, D. and Plecko, B. and Pollitt, C. and Price, S. and Quarrell, O. and Raas-Rothschild, A. and Rahman, N. and Raith, W. and Rankin, J. and Raymond, L. and Reardon, W. and Reid, E. and Rosser, E. and Ruddy, D. and Saggar-Malik, A. and Santos, H. and Scarano, G. and Schaeffer, G.B. and Schulze, A. and Selicorni, A. and Shaw, A. and Silengo, M. and Smithson, S. and Splitt, M. and Stewart, F. and Stewart, H. and Suri, M. and Sweeney, E. and Tatton-Brown, K. and Temple, I.K. and Thompson, E. and Tischkowitz, M. and Tolmie, J. and Turkmen, S. and Turnpenny, P. and Van Maldergem, L. and Vasudevan, P. and Vaz, I. and Waggoner, D. and Verellen, C. and Viot, G. and Wakeling, E. and Weaver, D. and White, K. and Wilson, L. and Zack, P. and Zampino, G. and Zankl, A. and Rahman, N., Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth, Nature Genetics, 39, (8), 2007, p963-965Journal Article, 2007, DOI , URL
Henderson, A. and Lynch, S.A. and Wilkinson, S. and Hunter, M., Adults with Down's sydrome: The prevalence of complications and health care in the community, British Journal of General Practice, 57, (534), 2007, p50-55Journal Article, 2007, URL
Finn, S.M. and Lynch, S.A., Malpuech syndrome: Facial features in the absence of clefting, Clinical Dysmorphology, 15, (4), 2006, p243-244Journal Article, 2006, DOI , URL
Murphy, A.-M. and Drumm, B. and Brenner, C. and Lynch, S.A., Diencephalic cachexia of infancy: Russell's syndrome, Clinical Dysmorphology, 15, (4), 2006, p253-254Journal Article, 2006, DOI , URL
Green, A. and Lynch, S.A., Health of the world's Roma population, Lancet, 368, (9535), 2006, p575Journal Article, 2006, DOI , URL
Crow, Y.J. and Hayward, B.E. and Parmar, R. and Robins, P. and Leitch, A. and Ali, M. and Black, D.N. and Van Bokhoven, H. and Brunner, H.G. and Hamel, B.C. and Corry, P.C. and Cowan, F.M. and Frints, S.G. and Klepper, J. and Livingston, J.H. and Lynch, S.A. and Massey, R.F. and Meritet, J.F. and Michaud, J.L. and Ponsot, G. and Voit, T. and Lebon, P. and Bonthron, D.T. and Jackson, A.P. and Barnes, D.E. and Lindahl, T., Mutations in the gene encoding the 3â²-5â² DNA exonuclease TREX1 cause Aicardi-GoutiÃšres syndrome at the AGS1 locus, Nature Genetics, 38, (8), 2006, p917-920Journal Article, 2006, DOI , URL
Haniffa, M.A. and Leech, S.N. and Lynch, S.A. and Simpson, N.B., NBCCS secondary to an interstitial chromosome 9q deletion, Clinical and Experimental Dermatology, 29, (5), 2004, p542-544Journal Article, 2004, DOI , URL
Wilding, C.S. and Relton, C.L. and Sutton, M.J. and Jonas, P.A. and Lynch, S.-A. and Tawn, E.J. and Burn, J., Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom, Birth Defects Research Part A - Clinical and Molecular Teratology, 70, (7), 2004, p483-485Journal Article, 2004, DOI , URL
Leech, S.N. and Taylor, A.E.M. and Ramesh, V. and Birchall, D. and Lynch, S.A., Widespread capillary malformation associated with global developmental delay and megalencephaly, Clinical Dysmorphology, 13, (3), 2004, p169-172Journal Article, 2004, DOI , URL
Relton, C.L. and Wilding, C.S. and Pearce, M.S. and Laffling, A.J. and Jonas, P.A. and Lynch, S.A. and Tawn, E.J. and Burn, J., Gene-qene interaction in folate-related genes and risk of neural tube defects in a UK population, Journal of Medical Genetics, 41, (4), 2004, p256-260Journal Article, 2004, URL
Relton, C.L. and Wilding, C.S. and Jonas, P.A. and Lynch, S.A. and Tawn, E.J. and Burn, J., Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype, Clinical Genetics, 64, (5), 2003, p424-428Journal Article, 2003, DOI , URL
Cheadle, J.P. and Gill, H. and Fleming, N. and Maynard, J. and Kerr, A. and Leonard, H. and Krawczak, M. and Cooper, D.N. and Lynch, S. and Thomas, N. and Hughes, H. and Hulten, M. and Ravine, D. and Sampson, J.R. and Clarke, A., Erratum: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (Human Molecular Genetics (2000) 9 (1119-1129)), Human Molecular Genetics, 9, (11), 2000, p1717Journal Article, 2000, URL
Ross, A.J. and Ruiz-Perez, V. and Wang, Y. and Hagan, D.-M. and Scherer, S. and Lynch, S.A. and Lindsay, S. and Custard, E. and Belloni, E. and Wilson, D.I. and Wadey, R. and Goodman, F. and Orstavik, K.H. and Monclair, T. and Robson, S. and Reardon, W. and Burn, J. and Scambler, P. and Strachan, T., A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis, Nature Genetics, 20, (4), 1998, p358-361Journal Article, 1998, DOI , URL
Morrison, K. and Papapetrou, C. and Hol, F.A. and Mariman, E.C.M. and Lynch, S.A. and Burn, J. and Edwards, Y.H., Susceptibility to spina bifida; An association study of five candidate genes, Annals of Human Genetics, 62, (5), 1998, p379-396Journal Article, 1998, DOI , URL
Loughlin, J. and Ireven, C. and Mustafa, Z. and Briggs, M.D. and Carr, A. and Lynch, S. and Knowlton, R.G. and Cohn, D.H. and Sykes, B., Identification of Five Novel Mutations in Cartilage Oligomeric Matrix Protein Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia, Human Mutation, 11, (SUPPL 1), 1998, pS10-S17Journal Article, 1998, DOI , URL
Ziakas, N.G. and Ramsay, A.S. and Lynch, S.A. and Clarke, M.P., Stickler's syndrome associated with congenital glaucoma, Ophthalmic Genetics, 19, (1), 1998, p55-58Journal Article, 1998, DOI , URL
Lynch, S.A. and Wright, C. and Robson, S.C., Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome?, Clinical Dysmorphology, 7, (4), 1998, p285-288Journal Article, 1998, DOI , URL
Morrison, K. and Edwards, Y.H. and Lynch, S.A. and Burn, J. and Hol, F. and Mariman, R., Methionine synthase and neural tube defects [1], Journal of Medical Genetics, 34, (11), 1997, p958Journal Article, 1997, URL
Walker, J.L. and Dixon, J. and Fenton, C.R. and Hungerford, J. and Lynch, S.A. and Stenhouses, S.A.R. and Christian, A. and Craig, I.W., Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively, Human Mutation, 9, (1), 1997, p53-56Journal Article, 1997, DOI , URL
Lynch, S.A. and Bushby, K.M.D., Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation - A new syndrome?, Clinical Dysmorphology, 6, (1), 1997, p35-37Journal Article, 1997, DOI , URL
Lynch, S.A. and Wright, C., Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother, Clinical Dysmorphology, 6, (1), 1997, p75-80Journal Article, 1997, DOI , URL
Lynch, S.A. and Gardner-Medwin, D. and Burn, J. and Bushby, K.M.D., Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay - A new autosomal dominant disorder?, Clinical Dysmorphology, 6, (2), 1997, p133-138Journal Article, 1997, DOI , URL
Walsh, L.M. and Lynch, S.A. and Clarke, M.P., Ocular abnormalities in a patient with partial deletion of chromosome 6p: A case report, Ophthalmic Genetics, 18, (3), 1997, p151-156Journal Article, 1997, DOI , URL
Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA, Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic., Archives of Disease in Childhood, 94, (1), 2009, p52-54Journal Article, 2009, DOI
O'Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D, Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics., Journal of genetic counseling, 20, (2), 2011, p192-203Journal Article, 2011, DOI
Casey, J, Kawaguchi, R, Morrissey, M, Sun, H, McGettigan, P, Nielsen, JE, Conroy, J, Regan, R, Kenny, E, Cormican, P, Morris, DW, Tormey, P, Chroinin, MN, Kennedy, BN, Lynch, S, Green, A, Ennis, S, First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype, HUMAN MUTATION, 32, (12), 2011, p1417-1426Journal Article, 2011, DOI , TARA - Full Text
Casey J, Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria, Eur J Med Genet, 57, (2-3), 2014, p55 - 50Journal Article, 2014, TARA - Full Text