Examination simulation system and method von WATTERS CRAIG B, SMITH DAN C

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis von Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy von Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy von Parry, David A., Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J., Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P.

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome von Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy

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Assessing the digenic model in rare disorders using population sequencing data von Moreno-Ruiz, Nerea, Lao, Oscar, Aróstegui, Juan Ignacio, Laayouni, Hafid, Casals, Ferran

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric

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Defining characteristics and outcomes for patients with non-alcoholic fatty liver disease admitted to hospital with decompensated cirrhosis von Buchanan, Ryan, Dhaliwal, Amritpal, Galanakis, Vasileios, Harris, Rebecca, Li, Wenhao, Yin, James Liu, Macken, Lucia, Maurice, James B., McDowell, Hannah, Sheiybani, Giovanna, Turner, Lucy, White, Helen, Zakeri, Nekisa, Cook, Charlotte, Abbas, Nadir, Abbasi, Abdullah, Abdulaziz, Mohamed, Adler, Maciej, Ahmad, Salman, Afifi, Mostafa, Alele, Jolomi, Ali, Alaa Mohammed, Asmat, Huma, Ball, Alexandra, Barn, Jeevan, Bhandari, Rajan, Bradley, Meg, Brown, Edward, Bryce, Kathleen, Cargill, Tamsin, Carroll, Geraldine, Cartledge, James, Choudhry, Zeshan, Corvan, Fintan, Creamer, John, Eckersley, Robert, Eike, Gidveig, Elshaarawy, Omar, Fazili, Mohammad, Fernandes, Denzil, Fox, James, Gairola, Abishek, Gautam, Nisham, Glover, Ben, Gomez, David, Goulder, John, Goyal, Simran, Hackett, Richard, Haddadin, Yazan, Hadjinicolaou, Andreas, Hall, Jonathan, Hawker-Bond, George, Hamza, Mohammed, Kaina, Philippa, Khan, Ayesha, Korani, Mohammed, Lateef, Mohammed, Leith, Damien, Liaros, Angela, Lyles, Annabel, Maggs, Daniel, Mahalingam, Aarani, Mahmood, Rizwan, Manocha, Namita, Martin, Katherine, Masin, Rhys, Mason, Denise, Matthews, Charmaine, Maxfield, Dominic, McCorry, Roger, McGoran, John, Michail, Stephanie, Mohammed, Zakiuddin, O’Kane, Rebecca, Omar, Sohail, Pericleous, Marinos, Pillay, Lushen, Ranade, Vaishali, Rastelli, Francesca, Rattehalli, Deepa, Raza, Tufail, Razak, Amir, Read, George, Shearer, Jessica, Sheikh, Adam, Sinha, Rohit, Smith, Gloria, Stokes, Daniel, Stroud, Robert, Summers, Nikki, Swann, Rachael, Taha, Mostafa, Taylor, Alison, Williams, Matthew, Woodland, Hazel, Yeh, Julian, Young, Alison, Jones, Rebecca, Rowe, Ian, Snowdon, Victoria

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Pediatric Tracheostomy Emergency Readiness Assessment Tool: International Consensus Recommendations von Schiff, Elliot, Propst, Evan J, Balakrishnan, Karthik, Johnson, Kaalan, Lounsbury, David W, Brenner, Michael J, Tawfik, Marc-Mina, Yang, Christina J

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OBSERVATIONS OF ENERGETIC HIGH MAGNETIC FIELD PULSARS WITH THE FERMI LARGE AREA TELESCOPE von PARENT, D, KERR, M, LIVINGSTONE, M, ROMANI, R. W, STAPPERS, B. W, WATTERS, K, WELTEVREDE, P, ABDO, A. A, BURGAY, M, CAMILO, F, CRAIG, H. A, FREIRE, P. C. C, DEN HARTOG, P. R, GIORDANO, F, GUILLEMOT, L, HOBBS, G, KEITH, M, KRAMER, M, LYNE, A. G, MANCHESTER, R. N, NOUTSOS, A, POSSENTI, A, SMITH, D. A, BARING, M. G, DECESAR, M. E, ESPINOZA, C. M, GOTTHELF, E. V, HARDING, A. K, JOHNSTON, S, KASPI, V. M

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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome von Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy

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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy von Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R., Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W. L., Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J., Shenthar, Jayaprakash, Dhandapany, Perundurai S., Semsarian, Christopher, Weintraub, Robert G., Bagnall, Richard D., Ingles, Jodie, Melé, Marta, Maass, Philipp G., Ellis, James, Scherer, Stephen W., Mital, Seema

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OBSERVATIONS OF ENERGETIC HIGH MAGNETIC FIELD PULSARS WITH THE FERMI LARGE AREA TELESCOPE von Parent, D, Abdo, A A, Kerr, M, Den Hartog, P R, Romani, R W, Watters, K, Craig, H A, Baring, M G, DeCesar, M E, Harding, A K, Espinoza, C M, Stappers, B W, Weltevrede, P, Gotthelf, E V, Camilo, F, Johnston, S, Kaspi, V M, Livingstone, M, Burgay, M, Freire, P C. C., others, and

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Assessing the digenic model in rare disorders using population sequencing data von Moreno-Ruiz, N, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Lao, O, Aróstegui, JI, Laayouni, H, Casals, F

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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis von Owen, N, Toms, M, Young, RM, Eintracht, J, Sarkar, H, Brooks, BP, Moosajee, M, Ambrose, JC, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de, BA, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Holman, JE, Hubbard, TJP, Jackson, R, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy von Parry, DA, Martin, CA, Greene, P, Marsh, JA, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Blyth, M, Cox, H, Donnelly, D, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, AJ, Rea, G, Robertson, L, Suri, M, Jackson, AP

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IOPscience - Observations of Energetic High Magnetic Field Pulsars with the Fermi Large Area Telescope von Parent, D, Kerr, M, den Hartog, P. R, Baring, M. G, DeCesar, M. E, Espinoza, C. M, Gotthelf, E. V, Harding, A. K, Johnston, S, Kaspi, V. M, Livingstone, M, Romani, R. W, Stappers, B. W, Watters, K, Weltevrede, P, Abdo, A. A, Burgay, M, Camilo, F, Craig, H. A, Freire, P. C. C, Giordano, F, Guillemot, L, Hobbs, G, Keith, M, Kramer, M, Lyne, A. G, Manchester, R. N, Noutsos, A, Possenti, A, Smith, D. A

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Assessing intellectual performance of culturally different, Inuit children with the WISC-R von WILGOSH, L, MULCAHY, R, WATTERS, B

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Observations of Energetic High Magnetic Field Pulsars with the Fermi Large Area Telescope von Parent, D, Kerr, M, Den Hartog, P R, Baring, M G, DeCesar, M E, Espinoza, C M, Gotthelf, E V, Harding, A K, Johnston, S, Kaspi, V M, Livingstone, M, Romani, R W, Stappers, B W, Watters, K, Weltevrede, P, Abdo, A A, Burgay, M, Camilo, F, Craig, H A, Freire, P C C, Giordano, F, Guillemot, L, Hobbs, G, Keith, M, Kramer, M, Lyne, A G, Manchester, R N, Noutsos, A, Possenti, A, Smith, D A

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Observations of Energetic High Magnetic Field Pulsars with the Fermi Large Area Telescope von Parent, D., Kerr, M., DenHartog, P. R., Baring, M. G., DeCesar, M. E., Espinoza, C. M., Harding, A. K., Romani, R. W., Stappers, B. W., Watters, K., Weltevrde, P., Abdo, A. A., Craig, H. A., Kramer, M., Lyne, A. G.

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