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Dr. Sally Ann Lynch

Clinical Senior Lecturer (Paediatrics)

 lynchs17@tcd.ie

 


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 Stöbe, 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, p440-454 , Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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, 2022, Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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, 2022, Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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, p142-143 , Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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 O†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 O†Brien, T. and Shen, S. and Gallagher, L., NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons, BMC Neuroscience, 22, (1), 2021, Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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 O†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), 2021, Notes: [cited By 3], Journal Article, PUBLISHED  DOI
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, p3446-3458 , Notes: [cited By 2], Journal Article, PUBLISHED  DOI
Weerts, M.J.A. and Lanko, K. and Guzmán-Vega, F.J. and Jackson, A. and Ramakrishnan, R. and Cardona-Londoño, K.J. and Peña-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 JÀrvelÀ, I. and Lauronen, L. and MÀÀttÀ, 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, p2122-2137 , Notes: [cited By 3], Journal Article, PUBLISHED  DOI
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, p643-651 , Notes: [cited By 0], Journal Article, PUBLISHED  DOI
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 O†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), 2021, Notes: [cited By 1], Journal Article, PUBLISHED  DOI
  

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