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Dr. Sally Ann Lynch
Clinical Senior Lecturer, Paediatrics

Publications and Further Research Outputs

Peer-Reviewed Publications

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 Journal Article, 2022 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 Journal Article, 2022 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 Journal Article, 2022 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 Journal Article, 2022 DOI

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 NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B), Stem Cell Research, 52, (102222), 2021 Journal Article, 2021 TARA - Full Text DOI

Ding, Y. and O'Brien, A. and Marcó 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 NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B), Stem Cell Research, 53, (102254), 2021 Journal Article, 2021 DOI TARA - Full Text

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, p187-200 Journal Article, 2021 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 Journal Article, 2021 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 Journal Article, 2021 DOI

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, p645-652 Journal Article, 2021 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 Journal Article, 2021 DOI

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, p121-127 Journal Article, 2021 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 Journal Article, 2021 DOI

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 O†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, p827-838 Journal Article, 2021 DOI

Wright, C.F. and Quaife, N.M. and Ramos-Hernández, 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, p1083-1094 Journal Article, 2021 DOI

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.5395G > A p.(Glu1799Lys) missense variant, American Journal of Medical Genetics, Part A, 185, (8), 2021, p2445-2454 Journal Article, 2021 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 Journal Article, 2021 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 Journal Article, 2021 DOI

Kaplanis, J. and Samocha, K.E. and Wiel, L. and Zhang, Z. and Arvai, K.J. and Eberhardt, R.Y. and Gallone, G. and Lelieveld, S.H. and Martin, H.C. and McRae, J.F. and Short, P.J. and Torene, R.I. and de Boer, E. and Danecek, P. and Gardner, E.J. and Huang, N. and Lord, J. and Martincorena, I. and Pfundt, R. and Reijnders, M.R.F. and Yeung, A. and Yntema, H.G. 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, Evidence for 28 genetic disorders discovered by combining healthcare and research data, Nature, 586, (7831), 2020, p757-762 Journal Article, 2020 DOI

Murray, S.L. and Fennelly, N.K. and Doyle, B. and Lynch, S.A. and Conlon, P.J., Integration of genetic and histopathology data in interpretation of kidney disease, Nephrology Dialysis Transplantation, 35, (7), 2020, p1113-1132 Journal Article, 2020 DOI

Cuvertino, S. and Hartill, V. and Colyer, A. and Garner, T. and Nair, N. and Al-Gazali, L. and Canham, N. and Faundes, V. and Flinter, F. and Hertecant, J. and Holder-Espinasse, M. and Jackson, B. and Lynch, S.A. and Nadat, F. and Narasimhan, V.M. and Peckham, M. and Sellers, R. and Seri, M. and Montanari, F. and Southgate, L. and Squeo, G.M. and Trembath, R. and van Heel, D. and Venuto, S. and Weisberg, D. and Stals, K. and Ellard, S. and Barton, A. and Kimber, S.J. and Sheridan, E. and Merla, G. and Stevens, A. and Johnson, C.A. and Banka, S. and Genomics England Research Consortium, Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Genetics in Medicine, (2020), 22, 5, (867-877), 10.1038/s41436-019-0743-3), Genetics in Medicine, 22, (5), 2020, p980 Journal Article, 2020 DOI

Cullinane, P.W. and Lynch, S.A. and Marnane, M., Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation, Journal of Molecular Neuroscience, 70, (9), 2020, p1354-1356 Journal Article, 2020 DOI

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, p1096-1112 Journal Article, 2020 DOI

Shaughnessy, N. and Forman, E.B. and O'Rourke, D. and Lynch, S.A. and Lynch, B., X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype, Neuromuscular Disorders, 30, (1), 2020, p35-37 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020

Sasaki, E. and Kostocenko, M. and Lang, N. and Clark, T. and Rogers, M. and Muldowney, R. and Walsh, O. and O†Grady, L. and Edge, G. and Ward, A. and Linnane, B. and Borovickova, I. and Barton, D.E. and Lynch, S.A., National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years, European Journal of Human Genetics, 28, (12), 2020, p1669-1674 Journal Article, 2020 DOI

Meerschaut, I. and De Coninck, S. and Steyaert, W. and Barnicoat, A. and Bayat, A. and Benedicenti, F. and Berland, S. and Blair, E.M. and Breckpot, J. and de Burca, A. and Destrée, A. and García-Miñaúr, S. and Green, A.J. and Hanna, B.C. and Keymolen, K. and Koopmans, M. and Lederer, D. and Lees, M. and Longman, C. and Lynch, S.A. and Male, A.M. and McKenzie, F. and Migeotte, I. and Mihci, E. and Nur, B. and Petit, F. and Piard, J. and Plasschaert, F.S. and Rauch, A. and Ribaï, P. and Pacheco, I.S. and Stanzial, F. and Stolte-Dijkstra, I. and Valenzuela, I. and Varghese, V. and Vasudevan, P.C. and Wakeling, E. and Wallgren-Pettersson, C. and Coucke, P. and De Paepe, A. and De Wolf, D. and Symoens, S. and Callewaert, B., A clinical scoring system for congenital contractural arachnodactyly, Genetics in Medicine, 22, (1), 2020, p124-131 Journal Article, 2020 DOI

Durkin, A. and Albaba, S. and Fry, A.E. and Morton, J.E. and Douglas, A. and Beleza, A. and Williams, D. and Volker-Touw, C.M.L. and Lynch, S.A. and Canham, N. and Clowes, V. and Straub, V. and Lachlan, K. and Gibbon, F. and El Gamal, M. and Varghese, V. and Parker, M.J. and Newbury-Ecob, R. and Turnpenny, P.D. and Gardham, A. and Ghali, N. and Balasubramanian, M., Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review, American Journal of Medical Genetics, Part A, 182, (7), 2020, p1637-1654 Journal Article, 2020 DOI

Choufani, S. and Gibson, W.T. and Turinsky, A.L. and Chung, B.H.Y. and Wang, T. and Garg, K. and Vitriolo, A. and Cohen, A.S.A. and Cyrus, S. and Goodman, S. and Chater-Diehl, E. and Brzezinski, J. and Brudno, M. and Ming, L.H. and White, S.M. and Lynch, S.A. and Clericuzio, C. and Temple, I.K. and Flinter, F. and McConnell, V. and Cushing, T. and Bird, L.M. and Splitt, M. and Kerr, B. and Scherer, S.W. and Machado, J. and Imagawa, E. and Okamoto, N. and Matsumoto, N. and Testa, G. and Iascone, M. and Tenconi, R. and Caluseriu, O. and Mendoza-Londono, R. and Chitayat, D. and Cytrynbaum, C. and Tatton-Brown, K. and Weksberg, R., DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes, American Journal of Human Genetics, 106, (5), 2020, p596-610 Journal Article, 2020 DOI

Cuvertino, S. and Hartill, V. and Colyer, A. and Garner, T. and Nair, N. and Al-Gazali, L. and Canham, N. and Faundes, V. and Flinter, F. and Hertecant, J. and Holder-Espinasse, M. and Jackson, B. and Lynch, S.A. and Nadat, F. and Narasimhan, V.M. and Peckham, M. and Sellers, R. and Seri, M. and Montanari, F. and Southgate, L. and Squeo, G.M. and Trembath, R. and van Heel, D. and Venuto, S. and Weisberg, D. and Stals, K. and Ellard, S. and Barton, A. and Kimber, S.J. and Sheridan, E. and Merla, G. and Stevens, A. and Johnson, C.A. and Banka, S. and Genomics England Research Consortium, A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome, Genetics in Medicine, 22, (5), 2020, p867-877 Journal Article, 2020 DOI

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Ree, R. and Geithus, A.S. and TÞrring, P.M. and SÞrensen, K.P. and DamkjÊr, M. and Lynch, S.A. and Arnesen, T., A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly, BMC Medical Genetics, 20, (1), 2019 Journal Article, 2019 DOI

McVeigh, T.P. and Donnelly, D. and Al Shehhi, M. and Jones, E.A. and Murray, A. and Wedderburn, S. and Porteous, M. and Lynch, S.A., Towards establishing consistency in triage in a tertiary specialty, European Journal of Human Genetics, 27, (4), 2019, p547-555 Journal Article, 2019 DOI

Ostrowski, P.J. and Zachariou, A. and Loveday, C. and Beleza-Meireles, A. and Bertoli, M. and Dean, J. and Douglas, A.G.L. and Ellis, I. and Foster, A. and Graham, J.M. and Hague, J. and Hilhorst-Hofstee, Y. and Hoffer, M. and Johnson, D. and Josifova, D. and Kant, S.G. and Kini, U. and Lachlan, K. and Lam, W. and Lees, M. and Lynch, S. and Maitz, S. and McKee, S. and Metcalfe, K. and Nathanson, K. and Ockeloen, C.W. and Parker, M.J. and Pierson, T.M. and Rahikkala, E. and Sanchez-Lara, P.A. and Spano, A. and Van Maldergem, L. and Cole, T. and Douzgou, S. and Tatton-Brown, K., The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 181, (4), 2019, p557-564 Journal Article, 2019 DOI

Lord, J. and Gallone, G. and Short, P.J. and McRae, J.F. and Ironfield, H. and Wynn, E.H. and Gerety, S.S. and He, L. and Kerr, B. and Johnson, D.S. and McCann, E. and Kinning, E. and Flinter, F. and Temple, I.K. and Clayton-Smith, J. and McEntagart, M. and Lynch, S.A. and Joss, S. and Douzgou, S. and Dabir, T. and Clowes, V. and McConnell, V.P.M. and Lam, W. and Wright, C.F. and FitzPatrick, D.R. and Firth, H.V. and Barrett, J.C. and Hurles, M.E., Pathogenicity and selective constraint on variation near splice sites, Genome Research, 29, (2), 2019, p159-170 Journal Article, 2019 DOI

Foster, A. and Zachariou, A. and Loveday, C. and Ashraf, T. and Blair, E. and Clayton-Smith, J. and Dorkins, H. and Fryer, A. and Gener, B. and Goudie, D. and Henderson, A. and Irving, M. and Joss, S. and Keeley, V. and Lahiri, N. and Lynch, S.A. and Mansour, S. and McCann, E. and Morton, J. and Motton, N. and Murray, A. and Riches, K. and Shears, D. and Stark, Z. and Thompson, E. and Vogt, J. and Wright, M. and Cole, T. and Tatton-Brown, K., The phenotype of Sotos syndrome in adulthood: A review of 44 individuals, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 181, (4), 2019, p502-508 Journal Article, 2019 DOI

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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, p181-184 Journal Article, 2017 DOI

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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, p1301-1302 Journal Article, 2017 DOI

Allen, N.M. and Conroy, J. and Shahwan, A. and Lynch, B. and Correa, R.G. and Pena, S.D.J. and McCreary, D. and Magalhães, T.R. and Ennis, S. and Lynch, S.A. and King, M.D., Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion, Epilepsia, 57, (1), 2016, pe12-e17 Journal Article, 2016 DOI

Gorman, K.M. and Lynch, S.A. and Schneider, A. and Grange, D.K. and Williamson, K.A. and FitzPatrick, D.R. and King, M.D., Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations, American Journal of Medical Genetics, Part A, 170, (11), 2016, p3048-3050 Journal Article, 2016 DOI

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, p146-151 Journal Article, 2016 DOI

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, pe191-2 Journal Article, 2016 DOI

Conroy, J. and Allen, N.M. and Gorman, K. and O'Halloran, E. and Shahwan, A. and Lynch, B. and Lynch, S.A. and Ennis, S. and King, M.D., Novel European SLC1A4 variant: Infantile spasms and population ancestry analysis, Journal of Human Genetics, 61, (8), 2016, p761-764 Journal Article, 2016 DOI

Casey, J.P. and Brennan, K. and Scheidel, N. and McGettigan, P. and Lavin, P.T. and Carter, S. and Ennis, S. and Dorkins, H. and Ghali, N. and Blacque, O.E. and Mc Gee, M.M. and Murphy, H. and Lynch, S.A., Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects, Human Molecular Genetics, 25, (9), 2016, p1824-1835 Journal Article, 2016 DOI

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O†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, p422-431 Journal Article, 2016 DOI

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, p1020-1026 Journal Article, 2016 DOI

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.e7 Journal Article, 2016 DOI

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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), 2015 Journal Article, 2015 DOI

Casey, J.P. and StÞve, S.I. and McGorrian, C. and Galvin, J. and Blenski, M. and Dunne, A. and Ennis, S. and Brett, F. and King, M.D. and Arnesen, T. and Lynch, S.A., NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment, Scientific Reports, 5, (16022), 2015 Journal Article, 2015 DOI

Kaiser, F.J. and Ansari, M. and Braunholz, D. and Gil-Rodríguez, M.C. and Decroos, C. and Wilde, J.J. and Fincher, C.T. and Kaur, M. and Bando, M. and Amor, D.J. and Atwal, P.S. and Bahlo, M. and Bowman, C.M. and Bradley, J.J. and Brunner, H.G. and Clark, D. and Campo, M.D. and Di Donato, N. and Diakumis, P. and Dubbs, H. and Dyment, D.A. and Eckhold, J. and Ernst, S. and Ferreira, J.C. and Francey, L.J. and Gehlken, U. and Guillén-Navarro, E. and Gyftodimou, Y. and Hall, B.D. and Hennekam, R. and Hudgins, L. and Hullings, M. and Hunter, J.M. and Yntema, H. and Innes, A.M. and Kline, A.D. and Krumina, Z. and Lee, H. and Leppig, K. and Lynch, S.A. and Mallozzi, M.B. and Mannini, L. and Mckee, S. and Mehta, S.G. and Micule, I. and Consortium, C.C. and Mohammed, S. and Moran, E. and Mortier, G.R. and Moser, J.-A.S. and Noon, S.E. and Nozaki, N. and Nunes, L. and Pappas, J.G. and Penney, L.S. and Pérez-Aytés, A. and Petersen, M.B. and Puisac, B. and Revencu, N. and Roeder, E. and Saitta, S. and Scheuerle, A.E. and Schindeler, K.L. and Siu, V.M. and Stark, Z. and Strom, S.P. and Thiese, H. and Vater, I. and Willems, P. and Williamson, K. and Wilson, L.C. and Hakonarson, H. and Quintero-Rivera, F. and Wierzba, J. and Musio, A. and Gillessen-Kaesbach, G. and Ramos, F.J. and Jackson, L.G. and Shirahige, K. and Pié, J. and Christianson, D.W. and Krantz, I.D. and Fitzpatrick, D.R. and Deardorff, M.A., 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, 23, (11), 2014, p2888-2900 Journal Article, 2014 DOI

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, 2014 Journal Article, 2014

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, p1863-1866 Journal Article, 2014 DOI

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, 2014 Journal Article, 2014

Casey J, Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria, Eur J Med Genet, 57, (2-3), 2014, p55 - 50 Journal Article, 2014 TARA - Full Text

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 - 510 Journal Article, 2014

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, p2958-2960 Journal Article, 2014 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, p105-108 Journal Article, 2014 DOI

Ansari, M. and Poke, G. and Ferry, Q. and Williamson, K. and Aldridge, R. and Meynert, A.M. and Bengani, H. and Chan, C.Y. and Kayserili, H. and Avci, Š. and Hennekam, R.C.M. and Lampe, A.K. and Redeker, E. and Homfray, T. and Ross, A. and Smeland, M.F. and Mansour, S. and Parker, M.J. and Cook, J.A. and Splitt, M. and Fisher, R.B. and Fryer, A. and Magee, A.C. and Wilkie, A. and Barnicoat, A. and Brady, A.F. and Cooper, N.S. and Mercer, C. and Deshpande, C. and Bennett, C.P. and Pilz, D.T. and Ruddy, D. and Cilliers, D. and Johnson, D.S. and Josifova, D. and Rosser, E. and Thompson, E.M. and Wakeling, E. and Kinning, E. and Stewart, F. and Flinter, F. and Girisha, K.M. and Cox, H. and Firth, H.V. and Kingston, H. and Wee, J.S. and Hurst, J.A. and Clayton-Smith, J. and Tolmie, J. and Vogt, J. and Tatton-Brown, K. and Chandler, K. and Prescott, K. and Wilson, L. and Behnam, M. and McEntagart, M. and Davidson, R. and Lynch, S.-A. and Sisodiya, S. and Mehta, S.G. and McKee, S.A. and Mohammed, S. and Holden, S. and Park, S.-M. and Holder, S.E. and Harrison, V. and McConnell, V. and Lam, W.K. and Green, A.J. and Donnai, D. and Bitner-Glindzicz, M. and Donnelly, D.E. and Nellåker, C. and Taylor, M.S. and FitzPatrick, D.R., Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism, Journal of Medical Genetics, 51, (10), 2014, p659-668 Journal Article, 2014 DOI

Allen, N.M. and Mannion, M. and Conroy, J. and Lynch, S.A. and Shahwan, A. and Lynch, B. and King, M.D., The variable phenotypes of KCNQ-related epilepsy, Epilepsia, 55, (9), 2014, pe99-e105 Journal Article, 2014 DOI

Tatton-Brown, K. and Murray, A. and Hanks, S. and Douglas, J. and Armstrong, R. and Banka, S. and Bird, L.M. and Clericuzio, C.L. and Cormier-Daire, V. and Cushing, T. and Flinter, F. and Jacquemont, M.-L. and Joss, S. and Kinning, E. and Lynch, S.A. and Magee, A. and Mcconnell, V. and Medeira, A. and Ozono, K. and Patton, M. and Rankin, J. and Shears, D. and Simon, M. and Splitt, M. and Strenger, V. and Stuurman, K. and Taylor, C. and Titheradge, H. and Van Maldergem, L. and Temple, I.K. and Cole, T. and Seal, S. and Rahman, N., Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype, American Journal of Medical Genetics, Part A, 161, (12), 2013, p2972-2980 Journal Article, 2013 DOI

Sharma, V.P. and Fenwick, A.L. and Brockop, M.S. and McGowan, S.J. and Goos, J.A.C. and Hoogeboom, A.J.M. and Brady, A.F. and Jeelani, N.O. and Lynch, S.A. and Mulliken, J.B. and Murray, D.J. and Phipps, J.M. and Sweeney, E. and Tomkins, S.E. and Wilson, L.C. and Bennett, S. and Cornall, R.J. and Broxholme, J. and Kanapin, A. and Johnson, D. and Wall, S.A. and Van Der Spek, P.J. and Mathijssen, I.M.J. and Maxson, R.E. and Twigg, S.R.F. and Wilkie, A.O.M., Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis (Nature Genetics (2013) 45 (304-307)), Nature Genetics, 45, (10), 2013, p1261 Journal Article, 2013 DOI

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, p565-566 Journal Article, 2013 DOI

Sharma, V.P. and Fenwick, A.L. and Brockop, M.S. and Mcgowan, S.J. and Goos, J.A.C. and Hoogeboom, A.J.M. and Brady, A.F. and Jeelani, N.O. and Lynch, S.A. and Mulliken, J.B. and Murray, D.J. and Phipps, J.M. and Sweeney, E. and Tomkins, S.E. and Wilson, L.C. and Bennett, S. and Cornall, R.J. and Broxholme, J. and Kanapin, A. and Johnson, D. and Wall, S.A. and Van Der Spek, P.J. and Mathijssen, I.M.J. and Maxson, R.E. and Twigg, S.R.F. and Wilkie, A.O.M., Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis, Nature Genetics, 45, (3), 2013, p304-307 Journal Article, 2013 DOI

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, p404-410 Journal Article, 2013 DOI

Brouillard, P. and Boon, L.M. and Revencu, N. and Berg, J. and Dompmartin, A. and Dubois, J. and Garzon, M. and Holden, S. and Kangesu, L. and LabrÚze, C. and Lynch, S.A. and McKeown, C. and Meskauskas, R. and Quere, I. and Syed, S. and Vabres, P. and Wassef, M. and Mulliken, J.B. and Vikkula, M., Genotypes and phenotypes of 162 families with a Glomulin mutation, Molecular Syndromology, 4, (4), 2013, p157-164 Journal Article, 2013 DOI

Banka, S. and Veeramachaneni, R. and Reardon, W. and Howard, E. and Bunstone, S. and Ragge, N. and Parker, M.J. and Crow, Y.J. and Kerr, B. and Kingston, H. and Metcalfe, K. and Chandler, K. and Magee, A. and Stewart, F. and McConnell, V.P.M. and Donnelly, D.E. and Berland, S. and Houge, G. and Morton, J.E. and Oley, C. and Revencu, N. and Park, S.-M. and Davies, S.J. and Fry, A.E. and Lynch, S.A. and Gill, H. and Schweiger, S. and Lam, W.W.K. and Tolmie, J. and Mohammed, S.N. and Hobson, E. and Smith, A. and Blyth, M. and Bennett, C. and Vasudevan, P.C. and García-Miñaúr, S. and Henderson, A. and Goodship, J. and Wright, M.J. and Fisher, R. and Gibbons, R. and Price, S.M. and De Silva, D.C. and Temple, I.K. and Collins, A.L. and Lachlan, K. and Elmslie, F. and McEntagart, M. and Castle, B. and Clayton-Smith, J. and Black, G.C. and Donnai, D., How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum, European Journal of Human Genetics, 20, (4), 2012, p381-388 Journal Article, 2012 DOI

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, p21-26 Journal Article, 2012 DOI

Casey, J.P. and Nobbs, M. and McGettigan, P. and Lynch, S. and Ennis, S., 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), 2012, p242-245 Journal Article, 2012 DOI

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, p351-8 Journal Article, 2012 DOI

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, p91-92 Journal Article, 2012 DOI

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, p476-479 Journal Article, 2012 DOI

Deardorff, M.A. and Wilde, J.J. and Albrecht, M. and Dickinson, E. and Tennstedt, S. and Braunholz, D. and Mönnich, M. and Yan, Y. and Xu, W. and Gil-Rodríguez, M.C. and Clark, D. and Hakonarson, H. and Halbach, S. and Michelis, L.D. and Rampuria, A. and Rossier, E. and Spranger, S. and Van Maldergem, L. and Lynch, S.A. and Gillessen-Kaesbach, G. and LÌdecke, H.-J. and Ramsay, R.G. and McKay, M.J. and Krantz, I.D. and Xu, H. and Horsfield, J.A. and Kaiser, F.J., RAD21 mutations cause a human cohesinopathy, American Journal of Human Genetics, 90, (6), 2012, p1014-1027 Journal Article, 2012 DOI

Schrier, S.A. and Bodurtha, J.N. and Burton, B. and Chudley, A.E. and Chiong, M.A.D. and D'avanzo, M.G. and Lynch, S.A. and Musio, A. and Nyazov, D.M. and Sanchez-Lara, P.A. and Shalev, S.A. and Deardorff, M.A., The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases, American Journal of Medical Genetics, Part A, 158 A, (8), 2012, p1865-1876 Journal Article, 2012 DOI

Lynch, S.A. and Foulds, N. and Thuresson, A.-C. and Collins, A.L. and Annerén, G. and Hedberg, B.-O. and Delaney, C.A. and Iremonger, J. and Murray, C.M. and Crolla, J.A. and Costigan, C. and Lam, W. and Fitzpatrick, D.R. and Regan, R. and Ennis, S. and Sharkey, F., The 12q14 microdeletion syndrome: Six new cases confirming the role of HMGA2 in growth, European Journal of Human Genetics, 19, (5), 2011, p534-539 Journal Article, 2011 DOI

Goff, C.L. and Mahaut, C. and Wang, L.W. and Allali, S. and Abhyankar, A. and Jensen, S. and Zylberberg, L. and Collod-Beroud, G. and Bonnet, D. and Alanay, Y. and Brady, A.F. and Cordier, M.-P. and Devriendt, K. and Genevieve, D. and Kiper, P.O.S. and Kitoh, H. and Krakow, D. and Lynch, S.A. and Merrer, M.L. and Mégarbane, A. and Mortier, G. and Odent, S. and Polak, M. and Rohrbach, M. and Sillence, D. and Stolte-Dijkstra, I. and Superti-Furga, A. and Rimoin, D.L. and Topouchian, V. and Unger, S. and Zabel, B. and Bole-Feysot, C. and Nitschke, P. and Handford, P. and Casanova, J.-L. and Boileau, C. and Apte, S.S. and Munnich, A. and Cormier-Daire, V., Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias, American Journal of Human Genetics, 89, (1), 2011, p7-14 Journal Article, 2011 DOI

Allali, S. and Le Goff, C. and Pressace-Diebold, I. and Pfennig, G. and Mahaut, C. and Dagoneau, N. and Alanay, Y. and Brady, A.F. and Crow, Y.J. and Devriendt, K. and Drouin-Garraud, V. and Flori, E. and GeneviÚve, D. and Hennekam, R.C. and Hurst, J. and Krakow, D. and Le Merrer, M. and Lichtenbelt, K.D. and Lynch, S.A. and Lyonnet, S. and MacDermot, K. and Mansour, S. and Megarbané, A. and Santos, H.G. and Splitt, M. and Superti-Furga, A. and Unger, S. and Williams, D. and Munnich, A. and Cormier-Daire, V., Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia, Journal of Medical Genetics, 48, (6), 2011, p417-421 Journal 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, p1417-1426 Journal Article, 2011 DOI TARA - Full Text

Lynch, S.A., What price a diagnosis?, Developmental Medicine and Child Neurology, 53, (11), 2011, p971 Journal Article, 2011 DOI

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, p21-25 Journal Article, 2011 DOI

Clayton-Smith, J. and O'Sullivan, J. and Daly, S. and Bhaskar, S. and Day, R. and Anderson, B. and Voss, A.K. and Thomas, T. and Biesecker, L.G. and Smith, P. and Fryer, A. and Chandler, K.E. and Kerr, B. and Tassabehji, M. and Lynch, S.-A. and Krajewska-Walasek, M. and McKee, S. and Smith, J. and Sweeney, E. and Mansour, S. and Mohammed, S. and Donnai, D. and Black, G., Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the say-barber-biesecker variant of Ohdo syndrome, American Journal of Human Genetics, 89, (5), 2011, p675-681 Journal Article, 2011 DOI

Palomares, M. and Delicado, A. and Mansilla, E. and De Torres, M.L. and Vallespín, E. and Fernandez, L. and Martinez-Glez, V. and García-Miñaur, S. and Nevado, J. and Simarro, F.S. and Ruiz-Perez, V.L. and Lynch, S.A. and Sharkey, F.H. and Thuresson, A.-C. and Annerén, G. and Belligni, E.F. and Martínez-Fernández, M.L. and Bermejo, E. and Nowakowska, B. and Kutkowska-Kazmierczak, A. and Bocian, E. and Obersztyn, E. and Martínez-Frías, M.L. and Hennekam, R.C.M. and Lapunzina, P., Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype, American Journal of Human Genetics, 89, (2), 2011, p295-301 Journal Article, 2011 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, p192-203 Journal Article, 2011 DOI

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, p219-223 Journal Article, 2011 DOI

Johnston, J.J. and Sapp, J.C. and Turner, J.T. and Amor, D. and Aftimos, S. and Aleck, K.A. and Bocian, M. and Bodurtha, J.N. and Cox, G.F. and Curry, C.J. and Day, R. and Donnai, D. and Field, M. and Fujiwara, I. and Gabbett, M. and Gal, M. and Graham, J.M. and Hedera, P. and Hennekam, R.C.M. and Hersh, J.H. and Hopkin, R.J. and Kayserili, H. and Kidd, A.M.J. and Kimonis, V. and Lin, A.E. and Lynch, S.A. and Maisenbacher, M. and Mansour, S. and Mcgaughran, J. and Mehta, L. and Murphy, H. and Raygada, M. and Robin, N.H. and Rope, A.F. and Rosenbaum, K.N. and Schaefer, G.B. and Shealy, A. and Smith, W. and Soller, M. and Sommer, A. and Stalker, H.J. and Steiner, B. and Stephan, M.J. and Tilstra, D. and Tomkins, S. and Trapane, P. and Tsai, A.C.-H. and Van Allen, M.I. and Vasudevan, P.C. and Zabel, B. and Zunich, J. and Black, G.C.M. and Biesecker, L.G., Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations, Human Mutation, 31, (10), 2010, p1142-1154 Journal Article, 2010 DOI

Wormald, R. and Viani, L. and Lynch, S.A. and Green, A.J., Sensorineural hearing loss in children, Irish Medical Journal, 103, (2), 2010 Journal Article, 2010

Wentzel, C. and Lynch, S.A. and Stattin, E.-L. and Sharkey, F.H. and Annerén, G. and Thuresson, A.-C., Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype, Molecular Syndromology, 1, (2), 2010, p75-81 Journal Article, 2010 DOI

Chan, L.F. and Metherell, L.A. and Krude, H. and Ball, C. and O'Riordan, S.M.P. and Costigan, C. and Lynch, S.A. and Savage, M.O. and Cavarzere, P. and Clark, A.J.L., Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency, Clinical Endocrinology, 71, (2), 2009, p171-175 Journal Article, 2009 DOI

Giorda, R. and Bonaglia, M.C. and Beri, S. and Fichera, M. and Novara, F. and Magini, P. and Urquhart, J. and Sharkey, F.H. and Zucca, C. and Grasso, R. and Marelli, S. and Castiglia, L. and Di Benedetto, D. and Musumeci, S.A. and Vitello, G.A. and Failla, P. and Reitano, S. and Avola, E. and Bisulli, F. and Tinuper, P. and Mastrangelo, M. and Fiocchi, I. and Spaccini, L. and Torniero, C. and Fontana, E. and Lynch, S.A. and Clayton-Smith, J. and Black, G. and Jonveaux, P. and Leheup, B. and Seri, M. and Romano, C. and dalla Bernardina, B. and Zuffardi, O., 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 (DOI:10.1016/j.ajhg.2009.08.001), American Journal of Human Genetics, 85, (3), 2009, p419 Journal Article, 2009 DOI

Giorda, R. and Bonaglia, M.C. and Beri, S. and Fichera, M. and Novara, F. and Magini, P. and Urquhart, J. and Sharkey, F.H. and Zucca, C. and Grasso, R. and Marelli, S. and Castiglia, L. and Di Benedetto, D. and Musumeci, S.A. and Vitello, G.A. and Failla, P. and Reitano, S. and Avola, E. and Bisulli, F. and Tinuper, P. and Mastrangelo, M. and Fiocchi, I. and Spaccini, L. and Torniero, C. and Fontana, E. and Lynch, S.A. and Clayton-Smith, J. and Black, G. and Jonveaux, P. and Leheup, B. and Seri, M. and Romano, C. and Bernardina, B.d. and Zuffardi, O., 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, American Journal of Human Genetics, 85, (3), 2009, p394-400 Journal Article, 2009 DOI

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), 2009 Journal Article, 2009

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, p52-54 Journal Article, 2009 DOI

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, 2009 Journal Article, 2009

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, p1585-1589 Journal Article, 2009 DOI

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, p997-1000 Journal Article, 2009 DOI

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, p820-822 Journal Article, 2008 DOI

O'Riordan, S.M.P. and Lynch, S.A. and Hindmarsh, P.C. and Chan, L.F. and Clark, A.J.L. and Costigan, C., A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population, Journal of Clinical Endocrinology and Metabolism, 93, (7), 2008, p2896-2899 Journal Article, 2008 DOI

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, p738-744 Journal Article, 2008 DOI

O'Riordan, S.M.P. and Lynch, S.A. and Hindmarsh, P.C. and Chan, L.F. and Clark, A.J.L. and Costigan, C., A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population, Journal of Clinical Endocrinology and Metabolism, 93, (7), 2008, p2896-2899 Journal Article, 2008 DOI

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, p287-288 Journal Article, 2008 DOI

Bergmann, C. and Fliegauf, M. and BrÌchle, N.O. and Frank, V. and Olbrich, H. and Kirschner, J. and Schermer, B. and Schmedding, I. and Kispert, A. and KrÀnzlin, B. and NÌrnberg, G. and Becker, C. and Grimm, T. and Girschick, G. and Lynch, S.A. and Kelehan, P. and Senderek, J. and Neuhaus, T.J. and Stallmach, T. and Zentgraf, H. and NÌrnberg, P. and Gretz, N. and Lo, C. and Lienkamp, S. and SchÀfer, T. and Walz, G. and Benzing, T. and Zerres, K. and Omran, H., Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia, American Journal of Human Genetics, 82, (4), 2008, p959-970 Journal Article, 2008 DOI

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, p1587-1592 Journal Article, 2008 DOI

Cody, N. and Green, A. and McDevitt, T. and Lynch, S.A., Cascade screening in BRCA1/2 mutation carriers, Irish Medical Journal, 101, (5), 2008 Journal Article, 2008

Barber, J.C.K. and Maloney, V.K. and Huang, S. and Bunyan, D.J. and Cresswell, L. and Kinning, E. and Benson, A. and Cheetham, T. and Wyllie, J. and Lynch, S.A. and Zwolinski, S. and Prescott, L. and Crow, Y. and Morgan, R. and Hobson, E., 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH, European Journal of Human Genetics, 16, (1), 2008, p18-27 Journal Article, 2008 DOI

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, p40-49 Journal Article, 2007 DOI

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 Déry, C. and Ferrie, C.D. and Flintoff, K. and Frints, S.G.M. and Garcia-Cazorla, A. and Gener, B. and Goizet, C. and GoutiÚres, F. and Green, A.J. and Guët, 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-GoutiÚres syndrome, American Journal of Human Genetics, 81, (4), 2007, p713-725 Journal Article, 2007 DOI

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, p898-901 Journal Article, 2007 DOI

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, p898-901 Journal Article, 2007 DOI

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, p963-965 Journal Article, 2007 DOI

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, p50-55 Journal Article, 2007

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, p257-259 Journal Article, 2007 DOI

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, p40-49 Journal Article, 2007 DOI

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 Déry, C. and Ferrie, C.D. and Flintoff, K. and Frints, S.G.M. and Garcia-Cazorla, A. and Gener, B. and Goizet, C. and GoutiÚres, F. and Green, A.J. and Guët, 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-GoutiÚres syndrome, American Journal of Human Genetics, 81, (4), 2007, p713-725 Journal Article, 2007 DOI

Crawford, J. and Lower, K.M. and Hennekam, R.C.M. and Van Esch, H. and Mégarbané, A. and Lynch, S.A. and Turner, G. and Gécz, J., Mutation screening in Börjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient, Journal of Medical Genetics, 43, (3), 2006, p238-243 Journal Article, 2006 DOI

Crawford, J. and Lower, K.M. and Hennekam, R.C.M. and Van Esch, H. and Mégarbané, A. and Lynch, S.A. and Turner, G. and Gécz, J., Mutation screening in Börjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient, Journal of Medical Genetics, 43, (3), 2006, p238-243 Journal Article, 2006 DOI

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, p253-254 Journal Article, 2006 DOI

Green, A. and Lynch, S.A., Health of the world's Roma population, Lancet, 368, (9535), 2006, p575 Journal Article, 2006 DOI

Finn, S.M. and Lynch, S.A., Malpuech syndrome: Facial features in the absence of clefting, Clinical Dysmorphology, 15, (4), 2006, p243-244 Journal Article, 2006 DOI

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 3′-5′ DNA exonuclease TREX1 cause Aicardi-GoutiÚres syndrome at the AGS1 locus, Nature Genetics, 38, (8), 2006, p917-920 Journal Article, 2006 DOI

Lynch, S.A., Non-multifactorial neural tube defects, American Journal of Medical Genetics - Seminars in Medical Genetics, 135 C, (1), 2005, p69-76 Journal Article, 2005 DOI

Lynch, S.A., Non-multifactorial neural tube defects, American Journal of Medical Genetics - Seminars in Medical Genetics, 135 C, (1), 2005, p69-76 Journal Article, 2005 DOI

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, p556-562 Journal Article, 2005 DOI

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, p150-153 Journal Article, 2005 DOI

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), 2005 Journal Article, 2005 DOI

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, p400-404 Journal Article, 2004 DOI

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, p483-485 Journal Article, 2004 DOI

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, p256-260 Journal Article, 2004

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, p542-544 Journal Article, 2004 DOI

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, p169-172 Journal Article, 2004 DOI

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, p251-254 Journal Article, 2004 DOI

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, p461-463 Journal Article, 2003 DOI

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-F252 Journal Article, 2003 DOI

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, p424-428 Journal Article, 2003 DOI

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, p444-445 Journal Article, 2002 DOI

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, p415-420 Journal Article, 2001 DOI

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, p466-470 Journal Article, 2000 DOI

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, p674-675 Journal Article, 2000 DOI

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, p1504-1515 Journal Article, 2000 DOI

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, p561-566 Journal Article, 2000 DOI

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, p1119-1129 Journal Article, 2000 DOI

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, p769 Journal Article, 2000 DOI

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, p1717 Journal Article, 2000

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, p285-288 Journal Article, 1998 DOI

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, p379-396 Journal Article, 1998 DOI

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, p358-361 Journal Article, 1998 DOI

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-S17 Journal Article, 1998 DOI

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, p55-58 Journal Article, 1998 DOI

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, p35-37 Journal Article, 1997 DOI

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, p151-156 Journal Article, 1997 DOI

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, p958 Journal Article, 1997

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, p133-138 Journal Article, 1997 DOI

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, p75-80 Journal Article, 1997 DOI

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, p53-56 Journal Article, 1997 DOI

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, p669-674 Journal Article, 1996 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, p1037-8 Journal Article, 1996 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, p227-230 Journal Article, 1995 DOI

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, p93-95 Journal Article, 1995 DOI