Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes von Molloy, B., Jones, E. R., Linhares, N. D., Buckley, P. G., Leahy, T. R., Lynch, B., Knerr, I., King, M. D., Gorman, K. M.

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Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B von Gorman, K.M., Meyer, E., Kurian, M.A.

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Yield of brain MRI in children with autism spectrum disorder von Byrne, D, Fisher, A, Baker, L, Twomey, EL, Gorman, K M

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Dystonia in children with acquired brain injury von Pentony, M., Featherstone, M., Sheikh, Y., Stroiescu, A., Bruell, H., Gill, I., Gorman, K.M.

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Clinical and genetic spectrum of SCN2A-associated episodic ataxia von Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K.M., Griffiths, L.R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M.J., Møller, R.S., Neubauer, B., Smith, R.A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H., Fazeli, W.

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NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy von Conroy, J., Allen, N.M., Gorman, K. M., Shahwan, A., Ennis, S., Lynch, S.A., King, M.D.

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Broad-scale geographic and temporal assessment of northern long-eared bat (Myotis septentrionalis) maternity colony-landscape association von Gorman, KM, Deeley, SM, Barr, EL, Freeze, SR, Kalen, N, Muthersbaugh, MS, Ford, WM

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Mitochondrial Diagnosis Revisited von Lagan, N.C, Gorman, K.M, King, M.D

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Rasmussen’s encephalitis, should absence of seizures influence or delay treatment? von Gorman, K. M., Farrell, M., Madigan, C., King, MD, Shahwan, A.

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Assessment of the ARFF-related NFPA standards development process von Herron, Rene, Smith, Todd D., Mikutel, Douglas, Gorman, M.K.

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Aerobic soil metabolism of metsulfuron-methyl von Li, Yutai, Zimmerman, W T, Gorman, M K, Reiser, R W, Fogiel, A J, Haney, P E

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Value of Chiropractic Services at an On-Site Health Center von Krause, Curt A., Kaspin, Lisa, Gorman, Kathleen M., Miller, Ross M.

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Exercise capacity in the elderly von Posner, Joel D., Gorman, Kevin M., Klein, Howard S., Woldow, Asher

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Multidimensional slit‐scan prescreening system: Preliminary results of a single blind clinical study von Wheeless, L. L., Patten, S. F., Berkan, T. K., Brooks, C. L., Gorman, K. M., Lesh, S. R., Lopez, P. A., Wood, J. C. S.

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A protocol for papanicolaou staining of cytologic specimens following flow analysis von Berkan, Todd K., Reeder, Jay E., Lopez, Peter A., Gorman, Kevin M., Wheeless, Leon L.

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Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B von Gorman, KM, Meyer, E, Kurian, MA

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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia von Reid, KM, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, KM, Papandreou, A, Simpson, MA, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, De Gressi, S, Kamsteeg, EJ, Haack, TB, Carr, L, Guerreiro, R, Bras, J, Maher, ER, Scott, RH, Vandenberg, RJ, Raymond, FL, Chong, WK, Sudhakar, S, Mankad, K, Reith, ME, Campeau, PM, Harvey, RJ, Kurian, MA

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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy von Hedrich, UBS, Lauxmann, S, Wolff, M, Synofzik, M, Bast, T, Binelli, A, Serratosa, JM, Martinez-Ulloa, P, Allen, NM, King, MD, Gorman, KM, Ben Zeev, B, Tzadok, M, Wong-Kisiel, L, Marjanovic, D, Rubboli, G, Sisodiya, SM, Lutz, F, Ashraf, HP, Torge, K, Yan, P, Bosselmann, C, Schwarz, N, Fudali, M, Lerche, H

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Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities von Steel, D, Zech, M, Zhao, C, Barwick, KE, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Genomics England Research Consortium, Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J

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RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood von Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, HM, Gorman, KM, Vezyroglou, A, Møller, RS, King Frcpch, MD, Hammer, TB, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, JH, Mallick, AA, Sanchis-Juan, A, Basu, A, Raymond, FL, Lynch, BJ, Majumdar Frcpch, A, Stamberger, H, Weckhuysen, S, Sisodiya, SM, Kurian, MA

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